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: rs193922430
rs193922430
CASR
1 1.000 0.080 3 122283888 missense variant C/A snv 0.700 0
dbSNP: rs104893712
rs104893712
CASR
3 0.882 0.160 3 122283764 missense variant G/A snv 0.020 1.000 2 2003 2003
dbSNP: rs104893710
rs104893710
CASR
5 0.851 0.200 3 122284413 missense variant C/T snv 0.010 1.000 1 2002 2002
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: rs397514729
rs397514729
CASR
3 0.882 0.120 3 122254274 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs587777020
rs587777020
GNA11
3 0.925 0.080 19 3115009 missense variant G/A snv 0.010 1.000 1 2013 2013
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