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rs797044441

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044441(G;T)
Make rs797044441(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position122257080
GeneCASR
is asnp
is mentioned by
dbSNPrs797044441
ebirs797044441
HLIrs797044441
Exacrs797044441
Varsomers797044441
Maprs797044441
PheGenIrs797044441
hapmaprs797044441
1000 genomesrs797044441
hgdprs797044441
ensemblrs797044441
gopubmedrs797044441
geneviewrs797044441
scholarrs797044441
googlers797044441
pharmgkbrs797044441
gwascentralrs797044441
openSNPrs797044441
23andMers797044441
23andMe allrs797044441
SNP Nexus

SNPshotrs797044441
SNPdbers797044441
MSV3drs797044441
GWAS Ctlgrs797044441
Max Magnitude0
ClinVar
Risk rs797044441(T;T)
Alt rs797044441(T;T)
Reference rs797044441(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1 Neonatal severe hyperparathyroidism
Reversed 0
HGVS NC_000003.11:g.121975927G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008845.6, RCV000054485.3,