Source: CLINVAR ×
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: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.700 1.000 5 2007 2011