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: rs1057518863
rs1057518863
0.923 0.107 3 48567190 missense variant C/A,T snp
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering
0.700 1 2015 2015
dbSNP: rs1057518863
rs1057518863
0.923 0.107 3 48567190 missense variant C/A,T snp
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
0.700 1 2015 2015
dbSNP: rs1057518863
rs1057518863
0.923 0.107 3 48567190 missense variant C/A,T snp
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
0.700 1 2015 2015
dbSNP: rs1057518863
rs1057518863
0.923 0.107 3 48567190 missense variant C/A,T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015