Source: CURATED ×
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: rs367674632
rs367674632
2 0.925 0.120 12 121857775 stop gained C/G;T snv 5.2E-05 1.4E-05 0.700 0
dbSNP: rs775747384
rs775747384
2 0.925 0.120 12 121857807 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0