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: rs397514671
rs397514671
STIM1
2 0.925 0.120 11 4083309 missense variant C/T snv 4.0E-06 0.800 1.000 2 2009 2012
dbSNP: rs483352867
rs483352867
STIM1
8 0.827 0.400 11 4074620 missense variant C/T snv 0.700 1.000 6 2014 2017
dbSNP: rs527236030
rs527236030
STIM1
4 0.851 0.400 11 4023945 missense variant A/T snv 0.700 1.000 2 2014 2015
dbSNP: rs1057519505
rs1057519505
STIM1
1 1.000 0.120 11 4083300 missense variant C/T snv 0.700 0
dbSNP: rs1057519506
rs1057519506
STIM1
1 1.000 0.120 11 3967633 missense variant T/C snv 0.700 0
dbSNP: rs1565171115
rs1565171115
STIM1
3 0.882 0.400 11 4083475 frameshift variant T/- delins 0.700 0
dbSNP: rs397514677
rs397514677
STIM1
6 0.851 0.400 11 4023928 missense variant A/G snv 0.700 0
dbSNP: rs397515357
rs397515357
STIM1
1 1.000 0.120 11 4023982 frameshift variant -/A delins 0.700 0
dbSNP: rs397515390
rs397515390
STIM1
1 1.000 0.120 11 4082183 splice acceptor variant G/A snv 0.700 0