Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 0.962 1 1996 2020
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.750 1.000 0 1998 2020
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.710 1.000 0 2009 2009
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 34 1985 2016
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 1.000 9 1995 2014
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
Malignant neoplasm of urinary bladder
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
Lacrimoauriculodentodigital syndrome
0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.700 0