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: rs878853176
rs878853176
1 1.000 0.240 3 4815154 missense variant T/G snv 0.800 1.000 2 2016 2016
dbSNP: rs752281590
rs752281590
2 1.000 0.240 3 4814521 missense variant G/A;C snv 4.0E-06 0.800 0
dbSNP: rs1553654413
rs1553654413
4 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1553689752
rs1553689752
1 1.000 0.240 3 4680564 frameshift variant -/TATA ins 0.700 1.000 1 2018 2018
dbSNP: rs878853175
rs878853175
1 1.000 0.240 3 4815177 inframe deletion AAG/- delins 0.700 1.000 1 2018 2018
dbSNP: rs886039392
rs886039392
4 0.882 0.240 3 4645678 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1553758021
rs1553758021
1 1.000 0.240 3 4815144 missense variant T/A;C snv 0.700 0
dbSNP: rs1559638068
rs1559638068
1 1.000 0.240 3 4662080 splice acceptor variant A/T snv 0.700 0
dbSNP: rs878853171
rs878853171
1 1.000 0.240 3 4706208 stop gained C/T snv 0.700 0
dbSNP: rs878853172
rs878853172
1 1.000 0.240 3 4670904 stop gained C/G;T snv 0.700 0
dbSNP: rs878853173
rs878853173
1 1.000 0.240 3 4782744 splice region variant A/T snv 0.700 0
dbSNP: rs878853174
rs878853174
1 1.000 0.240 3 4788144 splice region variant G/T snv 0.700 0
dbSNP: rs878853177
rs878853177
1 1.000 0.240 3 4779584 missense variant A/G snv 0.700 0