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: rs866789963
rs866789963
3 1.000 12 12150835 splice donor variant C/A;T snv 0.700 0
dbSNP: rs869320635
rs869320635
2 12 12121375 frameshift variant G/- delins 0.700 0
dbSNP: rs869320636
rs869320636
3 1.000 12 12138536 splice acceptor variant T/G snv 0.700 0
dbSNP: rs869320637
rs869320637
2 12 12203333 missense variant G/C snv 0.700 0
dbSNP: rs869320638
rs869320638
2 12 12179949 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs869320639
rs869320639
3 1.000 12 12165232 missense variant C/T snv 0.700 0
dbSNP: rs869320640
rs869320640
3 12 12126923 splice acceptor variant T/C snv 0.700 0