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rs104893709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893709(G;T)
Make rs104893709(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257175
GeneCASR
is asnp
is mentioned by
dbSNPrs104893709
ebirs104893709
HLIrs104893709
Exacrs104893709
Varsomers104893709
Maprs104893709
PheGenIrs104893709
hapmaprs104893709
1000 genomesrs104893709
hgdprs104893709
ensemblrs104893709
gopubmedrs104893709
geneviewrs104893709
scholarrs104893709
googlers104893709
pharmgkbrs104893709
gwascentralrs104893709
openSNPrs104893709
23andMers104893709
23andMe allrs104893709
SNP Nexus

SNPshotrs104893709
SNPdbers104893709
MSV3drs104893709
GWAS Ctlgrs104893709
Max Magnitude0
OMIM601199
Desc
Variant0042
Relatedalso
ClinVar
Risk rs104893709(T;T)
Alt rs104893709(T;T)
Reference rs104893709(G;G)
Significance Pathogenic
Disease Neonatal severe hyperparathyroidism
Variation info
Gene CASR
CLNDBN Neonatal severe hyperparathyroidism
Reversed 0
HGVS NC_000003.11:g.121976022G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008856.5,