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rs104893703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893703(C;G)
Make rs104893703(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283800
GeneCASR
is asnp
is mentioned by
dbSNPrs104893703
dbSNP (classic)rs104893703
ClinGenrs104893703
ebirs104893703
HLIrs104893703
Exacrs104893703
Gnomadrs104893703
Varsomers104893703
LitVarrs104893703
Maprs104893703
PheGenIrs104893703
Biobankrs104893703
1000 genomesrs104893703
hgdprs104893703
ensemblrs104893703
geneviewrs104893703
scholarrs104893703
googlers104893703
pharmgkbrs104893703
gwascentralrs104893703
openSNPrs104893703
23andMers104893703
SNPshotrs104893703
SNPdbers104893703
MSV3drs104893703
GWAS Ctlgrs104893703
Max Magnitude0
OMIM601199
Desc
Variant0029
Relatedalso
ClinVar
Risk rs104893703(G;G)
Alt rs104893703(G;G)
Reference Rs104893703(C;C)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122002647C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008840.5,