RPS24, ribosomal protein S24, 6229

N. diseases: 42; N. variants: 9
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: rs104894189
rs104894189
0.925 0.080 10 78035394 stop gained C/T snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs16935567
rs16935567
1.000 0.040 10 78039161 non coding transcript exon variant G/A snv 6.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1863900
rs1863900
1.000 0.040 10 78042492 intron variant A/G snv 5.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7090135
rs7090135
0.882 0.080 10 78043832 intron variant G/A;C snv 0.13
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs7090135
rs7090135
0.882 0.080 10 78043832 intron variant G/A;C snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7090135
rs7090135
0.882 0.080 10 78043832 intron variant G/A;C snv 0.13
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7899453
rs7899453
10 78040201 missense variant C/A snv 1.7E-02 6.7E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs7899453
rs7899453
10 78040201 missense variant C/A snv 1.7E-02 6.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs886039545
rs886039545
1.000 0.080 10 78033902 start lost A/G snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs104894188
rs104894188
0.925 0.080 10 78037230 stop gained C/T snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs104894188
rs104894188
0.925 0.080 10 78037230 stop gained C/T snv
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs104894189
rs104894189
0.925 0.080 10 78035394 stop gained C/T snv
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840806
rs116840806
0.925 0.080 10 78035352 stop gained AAC/TACGGATAG delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840806
rs116840806
0.925 0.080 10 78035352 stop gained AAC/TACGGATAG delins
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554841994
rs1554841994
0.925 0.080 10 78035589 missense variant A/C snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554841994
rs1554841994
0.925 0.080 10 78035589 missense variant A/C snv
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0