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: rs104893775
rs104893775
RHO
7 0.807 0.160 3 129530917 missense variant C/T snv 0.710 1.000 1 1996 1996
dbSNP: rs137853290
rs137853290
RLBP1
3 0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.710 1.000 1 2001 2001
dbSNP: rs28933990
rs28933990
RLBP1
4 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.710 1.000 1 2012 2012
dbSNP: rs137853291
rs137853291
RLBP1
4 0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05 0.700 0
dbSNP: rs1567124404
rs1567124404
RLBP1
2 0.925 0.080 15 89218627 frameshift variant T/- delins 0.700 0
dbSNP: rs786205626
rs786205626
RLBP1
2 0.925 0.080 15 89217169 inframe deletion GCAGGAAGAAGC/- delins 0.700 0
dbSNP: rs1050106163
rs1050106163
APOE
1 1.000 0.040 19 44908618 missense variant C/T snv 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs434102
rs434102
PRPH2
1 1.000 0.040 6 42698323 missense variant T/A;C;G snv 0.78; 1.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs750603713
rs750603713
ERG
1 1.000 0.040 21 38383798 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs775639597
rs775639597
MPST ; TST
1 1.000 0.040 22 37018333 missense variant A/G snv 8.0E-06 0.010 1.000 1 1996 1996