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rs104893719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893719(A;A)
Make rs104893719(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122282161
GeneCASR
is asnp
is mentioned by
dbSNPrs104893719
ebirs104893719
HLIrs104893719
Exacrs104893719
Varsomers104893719
Maprs104893719
PheGenIrs104893719
hapmaprs104893719
1000 genomesrs104893719
hgdprs104893719
ensemblrs104893719
gopubmedrs104893719
geneviewrs104893719
scholarrs104893719
googlers104893719
pharmgkbrs104893719
gwascentralrs104893719
openSNPrs104893719
23andMers104893719
23andMe allrs104893719
SNP Nexus

SNPshotrs104893719
SNPdbers104893719
MSV3drs104893719
GWAS Ctlgrs104893719
Max Magnitude0
OMIM601199
Desc
Variant0048
Relatedalso
ClinVar
Risk rs104893719(A;A)
Alt rs104893719(A;A)
Reference rs104893719(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.122001008G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008862.3,