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rs104893716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893716(A;A)
Make rs104893716(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122275828
GeneCASR
is asnp
is mentioned by
dbSNPrs104893716
ebirs104893716
HLIrs104893716
Exacrs104893716
Varsomers104893716
Maprs104893716
PheGenIrs104893716
hapmaprs104893716
1000 genomesrs104893716
hgdprs104893716
ensemblrs104893716
gopubmedrs104893716
geneviewrs104893716
scholarrs104893716
googlers104893716
pharmgkbrs104893716
gwascentralrs104893716
openSNPrs104893716
23andMers104893716
23andMe allrs104893716
SNP Nexus

SNPshotrs104893716
SNPdbers104893716
MSV3drs104893716
GWAS Ctlgrs104893716
Max Magnitude0
OMIM601199
Desc
Variant0043
Relatedalso
ClinVar
Risk rs104893716(A;A)
Alt rs104893716(A;A)
Reference rs104893716(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121994675G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008857.4,