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rs28936684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936684(G;T)
Make rs28936684(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261715
GeneCASR
is asnp
is mentioned by
dbSNPrs28936684
ebirs28936684
HLIrs28936684
Exacrs28936684
Varsomers28936684
Maprs28936684
PheGenIrs28936684
hapmaprs28936684
1000 genomesrs28936684
hgdprs28936684
ensemblrs28936684
gopubmedrs28936684
geneviewrs28936684
scholarrs28936684
googlers28936684
pharmgkbrs28936684
gwascentralrs28936684
openSNPrs28936684
23andMers28936684
23andMe allrs28936684
SNP Nexus

SNPshotrs28936684
SNPdbers28936684
MSV3drs28936684
GWAS Ctlgrs28936684
Max Magnitude0
OMIM601199
DescHYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
Variant0006
Relatedalso
OMIM601199
Desc
Variant0049
Relatedalso


ClinVar
Risk rs28936684(A,T;A,T)
Alt rs28936684(A,T;A,T)
Reference rs28936684(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.121980562G>A; NC_000003.11:g.121980562G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008833.6, RCV000008818.5,