TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060503011
rs1060503011
1.000 0.120 5 1279410 missense variant G/A;C snv 7.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs111576740
rs111576740
0.925 0.120 5 1266537 splice acceptor variant T/C;G snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918661
rs121918661
0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918662
rs121918662
0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918663
rs121918663
0.925 0.120 5 1272252 missense variant T/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918665
rs121918665
0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918666
rs121918666
0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1388515349
rs1388515349
1.000 0.120 5 1278700 missense variant G/A snv 8.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554041299
rs1554041299
1.000 0.120 5 1282488 coding sequence variant C/R snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422289
rs199422289
1.000 0.120 5 1294893 missense variant G/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422290
rs199422290
1.000 0.120 5 1294878 frameshift variant G/- del
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422291
rs199422291
1.000 0.120 5 1294456 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422293
rs199422293
1.000 0.120 5 1293430 missense variant G/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422294
rs199422294
0.827 0.160 5 1280216 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422295
rs199422295
0.882 0.120 5 1279376 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422296
rs199422296
1.000 0.120 5 1279392 missense variant C/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422297
rs199422297
0.925 0.120 5 1279311 missense variant G/A snv 5.1E-06 4.2E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422298
rs199422298
1.000 0.120 5 1278780 missense variant G/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422299
rs199422299
0.925 0.120 5 1278765 missense variant G/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422300
rs199422300
0.925 0.120 5 1278687 frameshift variant A/- del
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422301
rs199422301
0.882 0.120 5 1271156 missense variant G/A snv 7.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422302
rs199422302
1.000 0.120 5 1268565 missense variant T/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422303
rs199422303
1.000 0.120 5 1266490 missense variant G/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422307
rs199422307
1.000 0.120 5 1255401 missense variant A/G snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422308
rs199422308
1.000 0.120 5 1253546 3 prime UTR variant TCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGGGCCGCCCCTCCCTCCCTGGGACGTAGAGCCCGGCGTGACAGGGCTGCTGGTGTCTGCTCTCGGCCTGGCTGTGGGCGGGTGGCC/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0