Source: CLINVAR ×
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: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs192669225
rs192669225
AMPD2
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
dbSNP: rs730882200
rs730882200
ARFGEF2
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1057518918
rs1057518918
ARID1B
6 0.882 0.160 6 157184329 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
11 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs730882201
rs730882201
ARL14EP
4 1.000 11 30336665 missense variant G/A snv 0.700 0
dbSNP: rs1060499744
rs1060499744
ASH2L
2 1.000 8 38138822 missense variant A/G snv 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs377619533
rs377619533
ASXL3
5 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
5 0.827 0.120 1 1529299 missense variant C/T snv 0.710 1.000 1 2016 2016
dbSNP: rs387907281
rs387907281
ATP1A3
6 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
8 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs1060499759
rs1060499759
ATRX
2 1.000 X 77688879 missense variant A/T snv 0.700 0
dbSNP: rs1060499760
rs1060499760
ATRX
2 1.000 X 77683580 missense variant G/A snv 0.700 0
dbSNP: rs1569513017
rs1569513017
ATRX
1 1.000 X 77508625 frameshift variant A/- del 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0