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rs104893690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893690(A;A)
Make rs104893690(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283699
GeneCASR
is asnp
is mentioned by
dbSNPrs104893690
ebirs104893690
HLIrs104893690
Exacrs104893690
Varsomers104893690
Maprs104893690
PheGenIrs104893690
hapmaprs104893690
1000 genomesrs104893690
hgdprs104893690
ensemblrs104893690
gopubmedrs104893690
geneviewrs104893690
scholarrs104893690
googlers104893690
pharmgkbrs104893690
gwascentralrs104893690
openSNPrs104893690
23andMers104893690
23andMe allrs104893690
SNP Nexus

SNPshotrs104893690
SNPdbers104893690
MSV3drs104893690
GWAS Ctlgrs104893690
Max Magnitude0
OMIM601199
Desc
Variant0047
Relatedalso
OMIM601199
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893690(A,T;A,T)
Alt rs104893690(A,T;A,T)
Reference rs104893690(G;G)
Significance Pathogenic
Disease Neonatal severe hyperparathyroidism Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Neonatal severe hyperparathyroidism Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.122002546G>A; NC_000003.11:g.122002546G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008819.5, RCV000008861.3,