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: rs141322087
rs141322087
ABCC8
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
dbSNP: rs180177039
rs180177039
BRAF
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
7 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
dbSNP: rs1273330603
rs1273330603
GJB2
3 1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 0.700 0
dbSNP: rs773223403
rs773223403
ABCA3
3 1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06 0.700 0