Gene: CASR ×
Source: CURATED ×
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
8 0.790 0.200 3 122261589 missense variant G/A;C snv 0.810 1.000 35 1976 2016
dbSNP: rs121909259
rs121909259
CASR
3 0.882 0.160 3 122261924 missense variant G/A snv 0.800 1.000 25 1993 2016
dbSNP: rs121909263
rs121909263
CASR
2 0.925 0.120 3 122257308 missense variant C/T snv 0.800 1.000 22 1992 2016
dbSNP: rs201851934
rs201851934
CASR
2 0.925 0.120 3 122261549 missense variant A/C;G snv 4.0E-06 0.800 1.000 22 1993 2016
dbSNP: rs104893690
rs104893690
CASR
2 0.925 0.120 3 122283699 missense variant G/A;T snv 0.800 1.000 20 1993 2016
dbSNP: rs104893716
rs104893716
CASR
1 1.000 0.040 3 122275828 missense variant G/A;T snv 0.700 1.000 20 1993 2016
dbSNP: rs104893717
rs104893717
CASR
1 0.925 0.040 3 122254227 missense variant T/C snv 0.800 1.000 20 1993 2016
dbSNP: rs104893719
rs104893719
CASR
1 1.000 0.040 3 122282161 missense variant G/A snv 0.800 1.000 20 1993 2016
dbSNP: rs121909262
rs121909262
CASR
1 0.851 0.120 3 122254304 missense variant C/G;T snv 0.810 1.000 20 1993 2016
dbSNP: rs121909264
rs121909264
CASR
5 0.851 0.160 3 122257323 missense variant G/A snv 0.800 1.000 20 1993 2016
dbSNP: rs121909265
rs121909265
CASR
1 1.000 0.040 3 122254374 missense variant G/T snv 0.800 1.000 20 1993 2016
dbSNP: rs121909266
rs121909266
CASR
1 1.000 0.040 3 122257091 missense variant C/T snv 0.800 1.000 20 1993 2016
dbSNP: rs121909268
rs121909268
CASR
1 1.000 0.040 3 122261574 missense variant T/G snv 0.800 1.000 20 1993 2016
dbSNP: rs1276839362
rs1276839362
CASR
1 1.000 0.040 3 122257092 missense variant G/A;T snv 0.700 1.000 20 1993 2016
dbSNP: rs1482119762
rs1482119762
CASR
3 0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 20 1993 2016
dbSNP: rs1553765909
rs1553765909
CASR
1 1.000 0.040 3 122254314 missense variant T/C snv 0.700 1.000 20 1993 2016
dbSNP: rs397514728
rs397514728
CASR
3 0.851 0.160 3 122261697 missense variant C/A;T snv 0.800 1.000 20 1993 2016
dbSNP: rs769256610
rs769256610
CASR
1 1.000 0.040 3 122257322 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 20 1993 2016
dbSNP: rs777646067
rs777646067
CASR
1 1.000 0.040 3 122282167 missense variant A/G snv 4.0E-06 0.700 1.000 20 1993 2016
dbSNP: rs886041154
rs886041154
CASR
3 0.882 0.160 3 122254353 missense variant C/T snv 0.700 1.000 20 1993 2016
dbSNP: rs1060502847
rs1060502847
CASR
2 0.925 0.120 3 122254353 missense variant CG/TT mnv 0.700 1.000 9 1995 2014
dbSNP: rs1553769059
rs1553769059
CASR
2 0.925 0.120 3 122284197 frameshift variant -/G delins 0.700 1.000 1 1997 1997
dbSNP: rs1559956683
rs1559956683
CASR
2 0.925 0.120 3 122257288 inframe deletion AGAGCACATTCCCTC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs104893705
rs104893705
CASR
2 0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06 0.730 1.000 0 2001 2004
dbSNP: rs1057518933
rs1057518933
CASR
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0