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: rs776513864
rs776513864
ABCC6
6 0.925 0.200 16 16178920 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs78678589
rs78678589
ABCC6
8 0.925 0.160 16 16203457 missense variant G/C;T snv 1.6E-05 0.700 0
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs965791272
rs965791272
ABCC6
6 1.000 0.160 16 16155041 non coding transcript exon variant G/A;C;T snv 0.700 0