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: 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: rs886041637
rs886041637
CASR
2 0.925 0.120 3 122282134 stop gained C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518933
rs1057518933
CASR
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
dbSNP: rs1057520791
rs1057520791
CASR
3 0.882 0.160 3 122284611 missense variant G/A;C snv 0.700 0
dbSNP: rs1064794290
rs1064794290
CASR
1 1.000 0.040 3 122254250 missense variant G/A snv 0.700 0
dbSNP: rs1064794291
rs1064794291
CASR
1 1.000 0.040 3 122262224 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1559956508
rs1559956508
CASR
2 0.925 0.120 3 122257094 frameshift variant G/TTCGCT delins 0.700 0
dbSNP: rs193922423
rs193922423
CASR
2 0.925 0.120 3 122275959 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs193922441
rs193922441
CASR
1 1.000 0.040 3 122261531 missense variant A/G snv 0.700 0
dbSNP: rs773146939
rs773146939
CASR
1 1.000 0.040 3 122283993 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs794729230
rs794729230
CASR
2 0.925 0.120 3 122284436 missense variant A/C snv 0.700 0
dbSNP: rs797044441
rs797044441
CASR
2 0.925 0.120 3 122257080 splice acceptor variant G/T snv 0.700 0