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: rs1057518907
rs1057518907
GNAS
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs587777011
rs587777011
FAM111A
7 0.925 0.160 11 59153374 missense variant G/A snv 0.700 0
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2002 2002
dbSNP: rs104893710
rs104893710
CASR
5 0.851 0.200 3 122284413 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1385228926
rs1385228926
CASR
2 1.000 0.040 3 122284388 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs140749796
rs140749796
GNA11
3 0.925 0.080 19 3121122 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs199473648
rs199473648
KCNE2 ; LOC105372791
4 1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs587777020
rs587777020
GNA11
3 0.925 0.080 19 3115009 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs750295789
rs750295789
PTH
3 0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751813138
rs751813138
CASR
2 1.000 0.080 3 122262113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs771600279
rs771600279
ACKR3
2 1.000 0.080 2 236581483 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs772749342
rs772749342
TGFBI
2 1.000 0.080 5 136053080 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2016 2016