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rs1057518933

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518933(A;A)
Make rs1057518933(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position122284403
GeneCASR
is asnp
is mentioned by
dbSNPrs1057518933
dbSNP (old)rs1057518933
ClinGenrs1057518933
ebirs1057518933
HLIrs1057518933
Exacrs1057518933
Gnomadrs1057518933
Varsomers1057518933
Maprs1057518933
PheGenIrs1057518933
Biobankrs1057518933
1000 genomesrs1057518933
hgdprs1057518933
ensemblrs1057518933
gopubmedrs1057518933
geneviewrs1057518933
scholarrs1057518933
googlers1057518933
pharmgkbrs1057518933
gwascentralrs1057518933
openSNPrs1057518933
23andMers1057518933
23andMe allrs1057518933
SNPshotrs1057518933
SNPdbers1057518933
MSV3drs1057518933
GWAS Ctlgrs1057518933
Max Magnitude0
ClinVar
Risk rs1057518933(A;A)
Alt rs1057518933(A;A)
Reference Rs1057518933(G;G)
Significance Probable-Pathogenic
Disease Hypercalcemia Hypertrophic cardiomyopathy Hypocalciuria Parathyroid adenoma
Variation info
Gene CASR
CLNDBN Hypercalcemia Hypertrophic cardiomyopathy Hypocalciuria Parathyroid adenoma
Reversed 0
HGVS NC_000003.11:g.122003250G>A
CLNSRC
CLNACC RCV000415394.1,