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: rs147187700
rs147187700
ATM ; C11orf65
3 0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04 0.700 0
dbSNP: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 0.667 3 2014 2016
dbSNP: rs11540945
rs11540945
ATP1A1
2 0.925 0.080 1 116387415 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913035
rs121913035
MEN1 ; MAP4K2
2 1.000 0.080 11 64804513 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs1242082318
rs1242082318
ATP1A1 ; ATP1A1-AS1
1 1.000 0.080 1 116399062 missense variant G/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1290398674
rs1290398674
GNAS
5 0.851 0.240 20 58854075 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs386352319
rs386352319
KCNJ5
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs607969
rs607969
MEN1
2 1.000 0.080 11 64808033 missense variant C/T snv 1.2E-02 1.3E-02 0.010 < 0.001 1 1999 1999
dbSNP: rs76308115
rs76308115
PDE11A
5 0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03 0.010 1.000 1 2008 2008