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rs104893689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893689(A;A)
Make rs104893689(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261589
GeneCASR
is asnp
is mentioned by
dbSNPrs104893689
ebirs104893689
HLIrs104893689
Exacrs104893689
Varsomers104893689
Maprs104893689
PheGenIrs104893689
hapmaprs104893689
1000 genomesrs104893689
hgdprs104893689
ensemblrs104893689
gopubmedrs104893689
geneviewrs104893689
scholarrs104893689
googlers104893689
pharmgkbrs104893689
gwascentralrs104893689
openSNPrs104893689
23andMers104893689
23andMe allrs104893689
SNP Nexus

SNPshotrs104893689
SNPdbers104893689
MSV3drs104893689
GWAS Ctlgrs104893689
Max Magnitude0
OMIM601199
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893689(A;A)
Alt rs104893689(A;A)
Reference rs104893689(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.121980436G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008813.5, RCV000008814.4,