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: rs752924362
rs752924362
DNAI2
2 1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.700 1.000 3 2013 2015
dbSNP: rs201909971
rs201909971
DNAI2 ; LOC105371891
1 1.000 0.160 17 74314120 splice acceptor variant G/A;T snv 4.0E-06; 2.7E-04 0.700 0