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: rs1344172059
rs1344172059
ABCC8
12 0.882 0.080 11 17430838 missense variant C/T snv 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: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1562005199
rs1562005199
ADGRB3
1 6 69382853 missense variant G/A snv 0.700 0
dbSNP: rs1562137453
rs1562137453
ADGRB3
1 6 69049307 missense variant T/C snv 0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs886039900
rs886039900
AHDC1
8 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1569405174
rs1569405174
AMMECR1 ; LOC105373312
1 X 110317618 frameshift variant G/- delins 0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
6 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs1567280099
rs1567280099
ANKS3
1 16 4697038 frameshift variant -/G delins 0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G 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: 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: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1557106484
rs1557106484
ATRX
7 X 77633315 missense variant C/A snv 0.700 0
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs1568383758
rs1568383758
BRD4
1 19 15255488 missense variant C/A snv 0.700 0
dbSNP: rs370270828
rs370270828
BRF1
7 0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs373957300
rs373957300
BRF1
7 0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs606231416
rs606231416
BRF1
7 0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 0.700 0