Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167806
rs1114167806
7 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
dbSNP: rs34612342
rs34612342
11 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0