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: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs281875196
rs281875196
SMARCA2
9 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
dbSNP: rs148398509
rs148398509
HCN4
5 0.882 0.160 15 73323445 missense variant G/C snv 7.8E-03 7.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs4565946
rs4565946
TPH2
7 0.827 0.080 12 71942989 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4570625
rs4570625
TPH2
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2013 2013