Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514499(G;T)
Make rs397514499(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46846102
GeneAP2S1
is asnp
is mentioned by
dbSNPrs397514499
ebirs397514499
HLIrs397514499
Exacrs397514499
Varsomers397514499
Maprs397514499
PheGenIrs397514499
hapmaprs397514499
1000 genomesrs397514499
hgdprs397514499
ensemblrs397514499
gopubmedrs397514499
geneviewrs397514499
scholarrs397514499
googlers397514499
pharmgkbrs397514499
gwascentralrs397514499
openSNPrs397514499
23andMers397514499
23andMe allrs397514499
SNP Nexus

SNPshotrs397514499
SNPdbers397514499
MSV3drs397514499
GWAS Ctlgrs397514499
Max Magnitude0
ClinVar
Risk rs397514499(A,T;A,T)
Alt rs397514499(A,T;A,T)
Reference rs397514499(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene AP2S1
CLNDBN Hypocalciuric hypercalcemia, familial, type III
Reversed 1
HGVS NC_000019.9:g.47349359C>A; NC_000019.9:g.47349359C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032620.2, RCV000032621.2,