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rs104893717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893717(C;C)
Make rs104893717(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122254227
GeneCASR
is asnp
is mentioned by
dbSNPrs104893717
ebirs104893717
HLIrs104893717
Exacrs104893717
Varsomers104893717
Maprs104893717
PheGenIrs104893717
hapmaprs104893717
1000 genomesrs104893717
hgdprs104893717
ensemblrs104893717
gopubmedrs104893717
geneviewrs104893717
scholarrs104893717
googlers104893717
pharmgkbrs104893717
gwascentralrs104893717
openSNPrs104893717
23andMers104893717
23andMe allrs104893717
SNP Nexus

SNPshotrs104893717
SNPdbers104893717
MSV3drs104893717
GWAS Ctlgrs104893717
Max Magnitude0
OMIM601199
Desc
Variant0044
Relatedalso
ClinVar
Risk rs104893717(C;C)
Alt rs104893717(C;C)
Reference rs104893717(T;T)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121973074T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008858.4,