Source: ALL
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: rs121434382
rs121434382
HMCN1
3 0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04 0.700 1.000 1 2003 2003
dbSNP: rs745503234
rs745503234
CFHR3
1 1.000 0.040 1 196793323 missense variant G/A;T snv 4.3E-06; 9.4E-05 0.700 0
dbSNP: rs879255520
rs879255520
HMCN1
1 1.000 0.040 1 186001390 frameshift variant C/- delins 0.700 0