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: rs104893689
rs104893689
CASR
10 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057518933
rs1057518933
CASR
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
dbSNP: rs397507481
rs397507481
BRAF
4 0.882 0.240 7 140754206 missense variant G/C;T 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 2012 2012
dbSNP: rs121434597
rs121434597
PTH1R
4 0.851 0.120 3 46898691 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121909262
rs121909262
CASR
5 0.851 0.120 3 122254304 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2009 2009
dbSNP: rs201858689
rs201858689
CASR
3 0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05 0.010 1.000 1 2014 2014