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: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
0.700 0
dbSNP: rs397517154
rs397517154
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
0.700 0
dbSNP: rs66527965
rs66527965
0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry
0.700 0