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: rs730882207
rs730882207
EPB41L4A
2 0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs1114167303
rs1114167303
SON
3 0.925 0.120 21 33553079 frameshift variant GGTAT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039773
rs886039773
SON
3 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039777
rs886039777
SON ; MIR6501
3 0.925 0.120 21 33549517 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886039778
rs886039778
SON
3 0.925 0.120 21 33552303 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs886039779
rs886039779
SON
3 0.925 0.120 21 33557227 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1557182317
rs1557182317
EMD
3 0.925 0.160 X 154379790 frameshift variant -/T delins 0.700 0
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs111033212
rs111033212
SLC26A4
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.700 0
dbSNP: rs1553354952
rs1553354952
WDR26
4 0.882 0.200 1 224404492 missense variant C/T snv 0.700 0
dbSNP: rs1553354956
rs1553354956
WDR26
4 0.882 0.200 1 224404504 missense variant A/C snv 0.700 0
dbSNP: rs1555307370
rs1555307370
SOX5
4 0.882 0.160 12 23740986 stop gained G/A snv 0.700 0
dbSNP: rs878853162
rs878853162
TUBB
4 0.851 0.320 6 30723724 missense variant C/T snv 0.700 0
dbSNP: rs886039905
rs886039905
COL6A2
4 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0
dbSNP: rs142920240
rs142920240
CFTR
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs1569146993
rs1569146993
TCF20
5 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
dbSNP: rs878853160
rs878853160
CDK13
5 0.882 0.120 7 40046007 missense variant A/G snv 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs1555580263
rs1555580263
SMARCD2
6 0.827 0.240 17 63837200 stop gained -/AGGTAGAACCTTATCTGCCATCTTC delins 0.700 0
dbSNP: rs370244148
rs370244148
WNT2B
6 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs587777449
rs587777449
IFIH1
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs730882198
rs730882198
SPART
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs80338848
rs80338848
SLC26A4
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.700 0
dbSNP: rs869312713
rs869312713
ANKRD11
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs1057519566
rs1057519566
MDH2
7 0.851 0.160 7 76063579 missense variant C/T snv 0.700 1.000 1 2017 2017