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: rs1553632357
rs1553632357
5 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0
dbSNP: rs1555429629
rs1555429629
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs397515415
rs397515415
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
dbSNP: rs757511770
rs757511770
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs759125480
rs759125480
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs80338758
rs80338758
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
dbSNP: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs774679542
rs774679542
2 1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs869320624
rs869320624
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017