rs397514498

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs397514498(C;T)

Make rs397514498(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46846103

Gene

AP2S1

is a	snp
is	mentioned by
dbSNP	rs397514498
dbSNP (classic)	rs397514498
ClinGen	rs397514498
ebi	rs397514498
HLI	rs397514498
Exac	rs397514498
Gnomad	rs397514498
Varsome	rs397514498
LitVar	rs397514498
Map	rs397514498
PheGenI	rs397514498
Biobank	rs397514498
1000 genomes	rs397514498
hgdp	rs397514498
ensembl	rs397514498
geneview	rs397514498
scholar	rs397514498
google	rs397514498
pharmgkb	rs397514498
gwascentral	rs397514498
openSNP	rs397514498
23andMe	rs397514498
SNPshot	rs397514498
SNPdbe	rs397514498
MSV3d	rs397514498
GWAS Ctlg	rs397514498

Max Magnitude

0

ClinVar
Risk	rs397514498(T;T)
Alt	rs397514498(T;T)
Reference	Rs397514498(C;C)
Significance	Pathogenic
Disease	Hypocalciuric hypercalcemia
Variation	info
Gene	AP2S1
CLNDBN	Hypocalciuric hypercalcemia, familial, type III
Reversed	1
HGVS	NC_000019.9:g.47349360G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032619.3,