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: rs112550005
rs112550005
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs1218912272
rs1218912272
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs121912856
rs121912856
0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs28934906
rs28934906
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs765243124
rs765243124
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0
dbSNP: rs780261665
rs780261665
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 0