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: rs397507851
rs397507851
3 0.925 0.120 13 32340761 frameshift variant AAATGTT/- delins 0.700 1.000 1 2004 2004
dbSNP: rs80358683
rs80358683
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs80359584
rs80359584
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs80358451
rs80358451
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs11571836
rs11571836
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013