Source: CURATED ×
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: rs1127354
rs1127354
ITPA
3 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.900 0.900 1 2010 2020
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs776035233
rs776035233
LCAT
4 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs779114194
rs779114194
LCAT
4 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs987710
rs987710
IGLV10-54
4 1.000 0.040 22 22158022 intron variant G/A snv 0.61 0.700 1.000 1 2011 2011
dbSNP: rs1057516674
rs1057516674
G6PC
5 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
dbSNP: rs1057520529
rs1057520529
FOXP3
4 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0
dbSNP: rs1060499688
rs1060499688
GNPTAB
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs1554544862
rs1554544862
ANK1
1 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 0.700 0
dbSNP: rs33950507
rs33950507
HBB
7 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs41469945
rs41469945
HBA2
3 0.925 0.080 16 173581 missense variant T/C;G snv 0.700 0
dbSNP: rs747506979
rs747506979
GBA
4 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs76992529
rs76992529
TTR
10 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0