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: rs386352352
rs386352352
6 0.851 0.080 19 14097604 missense variant A/C snv 0.800 0
dbSNP: rs724160013
rs724160013
1 1.000 19 14097621 protein altering variant -/CAC delins 2.8E-05 0.700 0