Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 15
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 7
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 6
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 6
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1565922388
SYT1
0.925 12 79353599 missense variant T/A snv 5
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv 5
rs1565962725
SYT1
0.925 12 79448953 missense variant C/A snv 5
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5