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: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
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: rs748106387
rs748106387
SMARCAL1
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs11555217
rs11555217
DHCR7
5 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 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: rs779896782
rs779896782
DHCR7
5 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs1564062144
rs1564062144
HNRNPK
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0