Source: ALL
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: rs121917848
rs121917848
SLC10A2
1 1.000 0.120 13 103051290 missense variant A/G snv 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs387906390
rs387906390
SLC10A2
1 1.000 0.120 13 103052619 splice donor variant CTT/AAG mnv 0.700 0
dbSNP: rs72547505
rs72547505
SLC10A2
1 1.000 0.120 13 103049423 missense variant G/A;T snv 5.3E-04; 4.0E-06 0.700 0