Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 10
rs11555217
DHCR7
0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 5
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 5
rs1331331095
DHCR7
0.925 0.080 11 71435394 missense variant A/C;T snv 3
rs80338853
DHCR7
1.000 0.080 11 71444036 missense variant G/A snv 4.0E-05 9.1E-05 2
rs1046560765
DHCR7
1.000 0.080 11 71435581 missense variant A/G snv 4.1E-06 7.0E-06 1
rs104886035
DHCR7
1.000 0.080 11 71444163 missense variant G/A snv 7.0E-06 1
rs104886039
DHCR7
1.000 0.080 11 71444022 stop gained G/A snv 3.6E-05 1.4E-05 1
rs104886041
DHCR7
1.000 0.080 11 71444018 missense variant A/G snv 4.0E-06 1
rs104894212
DHCR7
1.000 0.080 11 71438966 missense variant C/A snv 1
rs104894213
DHCR7
1.000 0.080 11 71441400 stop gained C/T snv 1
rs1057516375
DHCR7
1.000 0.080 11 71435822 stop gained G/T snv 1
rs1057516493
DHCR7
1.000 0.080 11 71435604 stop gained C/A;T snv 1
rs1057516517
DHCR7
1.000 0.080 11 71435722 frameshift variant CA/- delins 1
rs1057516610
DHCR7
1.000 0.080 11 71435812 stop gained G/A;C snv 4.2E-06 1
rs1057516618
DHCR7
1.000 0.080 11 71435808 frameshift variant A/- del 1
rs1057516783
DHCR7
1.000 0.080 11 71438906 frameshift variant A/- del 1
rs1057516920
DHCR7
1.000 0.080 11 71438877 splice donor variant A/T snv 7.0E-06 1
rs1057516973
DHCR7
1.000 0.080 11 71437811 splice donor variant C/A snv 1
rs1057516977
DHCR7
1.000 0.080 11 71444937 stop gained G/A snv 4.0E-06 1
rs1057517070
DHCR7
1.000 0.080 11 71437810 splice donor variant A/C snv 1
rs1057517210
DHCR7
1.000 0.080 11 71439084 splice acceptor variant C/T snv 8.0E-06 7.0E-06 1
rs1057517307
DHCR7
1.000 0.080 11 71441441 splice acceptor variant C/T snv 1