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: rs550921485
rs550921485
HPCA
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs574658589
rs574658589
HPCA
2 1 32888928 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs775863165
rs775863165
HPCA
3 1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs786205675
rs786205675
HPCA
3 1.000 0.080 1 32889123 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1135401746
rs1135401746
GNB1
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs878853161
rs878853161
SLC2A1
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
dbSNP: rs104893665
rs104893665
SPR
2 1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 0.700 1.000 5 2001 2013
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
3 1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs121917747
rs121917747
SPR
2 1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs1296383102
rs1296383102
HIBCH
2 2 190208898 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
5 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1553547838
rs1553547838
SATB2
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs796065306
rs796065306
ADCY5
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs864309484
rs864309484
ADCY5
4 1.000 0.080 3 123291354 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs113994063
rs113994063
EIF2B5
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs869025221
rs869025221
RARB
5 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
dbSNP: rs869025222
rs869025222
RARB
9 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0