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rs193922443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922443(C;C)
Make rs193922443(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261678
GeneCASR
is asnp
is mentioned by
dbSNPrs193922443
ebirs193922443
HLIrs193922443
Exacrs193922443
Varsomers193922443
Maprs193922443
PheGenIrs193922443
hapmaprs193922443
1000 genomesrs193922443
hgdprs193922443
ensemblrs193922443
gopubmedrs193922443
geneviewrs193922443
scholarrs193922443
googlers193922443
pharmgkbrs193922443
gwascentralrs193922443
openSNPrs193922443
23andMers193922443
23andMe allrs193922443
SNP Nexus

SNPshotrs193922443
SNPdbers193922443
MSV3drs193922443
GWAS Ctlgrs193922443
Max Magnitude0
ClinVar
Risk rs193922443(A,C;A,C)
Alt rs193922443(A,C;A,C)
Reference rs193922443(G;G)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121980525G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029454.1,