rs137853086

Orientation

minus

Stabilized

minus

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

Make rs137853086(C;T)

Make rs137853086(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165770217

Gene

GALNT3

is a	snp
is	mentioned by
dbSNP	rs137853086
dbSNP (classic)	rs137853086
ClinGen	rs137853086
ebi	rs137853086
HLI	rs137853086
Exac	rs137853086
Gnomad	rs137853086
Varsome	rs137853086
LitVar	rs137853086
Map	rs137853086
PheGenI	rs137853086
Biobank	rs137853086
1000 genomes	rs137853086
hgdp	rs137853086
ensembl	rs137853086
geneview	rs137853086
scholar	rs137853086
google	rs137853086
pharmgkb	rs137853086
gwascentral	rs137853086
openSNP	rs137853086
23andMe	rs137853086
SNPshot	rs137853086
SNPdbe	rs137853086
MSV3d	rs137853086
GWAS Ctlg	rs137853086

GMAF

0.0004591

Max Magnitude

0

OMIM	601756
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853086(T;T)
Alt	rs137853086(T;T)
Reference	Rs137853086(C;C)
Significance	Pathogenic
Disease	Tumoral calcinosis
Variation	info
Gene	GALNT3
CLNDBN	Tumoral calcinosis, familial, hyperphosphatemic
Reversed	1
HGVS	NC_000002.11:g.166626727G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008235.4,