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: rs267607076
rs267607076
SMS
1 1.000 0.080 X 21977126 missense variant T/G snv 0.810 1.000 6 2003 2013
dbSNP: rs397515550
rs397515550
SMS
1 1.000 0.080 X 21971926 missense variant G/A snv 0.810 1.000 6 2003 2013
dbSNP: rs397515553
rs397515553
SMS
1 1.000 0.080 X 21992634 missense variant A/C;G snv 0.810 1.000 6 2003 2013
dbSNP: rs397515549
rs397515549
SMS
1 1.000 0.080 X 21971900 missense variant T/A;C snv 5.5E-06 0.800 1.000 6 2003 2013
dbSNP: rs121434610
rs121434610
SMS
3 0.882 0.120 X 21967312 missense variant G/A snv 0.800 0
dbSNP: rs397515381
rs397515381
SMS
1 1.000 0.080 X 21972576 splice region variant G/A snv 0.700 0
dbSNP: rs397515551
rs397515551
SMS
1 1.000 0.080 X 21977174 missense variant A/G snv 0.700 0
dbSNP: rs397515552
rs397515552
SMS
1 1.000 0.080 X 21977180 missense variant T/C snv 0.700 0