Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893705(C;T)
Make rs104893705(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283896
GeneCASR
is asnp
is mentioned by
dbSNPrs104893705
ebirs104893705
HLIrs104893705
Exacrs104893705
Varsomers104893705
Maprs104893705
PheGenIrs104893705
hapmaprs104893705
1000 genomesrs104893705
hgdprs104893705
ensemblrs104893705
gopubmedrs104893705
geneviewrs104893705
scholarrs104893705
googlers104893705
pharmgkbrs104893705
gwascentralrs104893705
openSNPrs104893705
23andMers104893705
23andMe allrs104893705
SNP Nexus

SNPshotrs104893705
SNPdbers104893705
MSV3drs104893705
GWAS Ctlgrs104893705
Max Magnitude0
OMIM601199
Desc
Variant0032
Relatedalso
ClinVar
Risk rs104893705(G,T;G,T)
Alt rs104893705(G,T;G,T)
Reference rs104893705(C;C)
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.122002743C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008843.4, RCV000054484.3,