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: rs104894129
rs104894129
TPM2
4 0.851 0.120 9 35685672 missense variant C/T snv 0.800 1.000 7 2002 2014
dbSNP: rs137853305
rs137853305
TPM2
7 0.851 0.120 9 35685529 missense variant G/A snv 0.700 1.000 5 2003 2018
dbSNP: rs199476146
rs199476146
TPM2
2 0.925 0.120 9 35689796 inframe deletion CTT/- delins 0.700 1.000 3 2013 2015
dbSNP: rs104894127
rs104894127
TPM2
4 0.925 0.080 9 35685750 missense variant G/C snv 0.700 1.000 2 2003 2014
dbSNP: rs199476151
rs199476151
TPM2
1 1.000 0.080 9 35685743 missense variant T/C snv 0.700 1.000 2 2003 2014
dbSNP: rs1554400286
rs1554400286
MET
1 1.000 0.080 7 116783372 missense variant A/G snv 0.700 0
dbSNP: rs1554658995
rs1554658995
TPM2
1 1.000 0.080 9 35685656 inframe deletion TCA/- delins 0.700 0
dbSNP: rs1567973091
rs1567973091
CNTNAP1
1 1.000 0.080 17 42690898 stop gained G/A snv 0.700 0
dbSNP: rs199476153
rs199476153
TPM2
3 0.882 0.120 9 35685509 inframe deletion CTC/- delins 0.700 0
dbSNP: rs121434638
rs121434638
TNNT3
1 1.000 0.080 11 1933737 missense variant G/A snv 0.010 1.000 1 2009 2009