rs397514546

Orientation

plus

Stabilized

plus

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

Make rs397514546(-;-)

Make rs397514546(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

63781128

Gene

TMEM5

is a	snp
is	mentioned by
dbSNP	rs397514546
dbSNP (classic)	rs397514546
ClinGen	rs397514546
ebi	rs397514546
HLI	rs397514546
Exac	rs397514546
Gnomad	rs397514546
Varsome	rs397514546
LitVar	rs397514546
Map	rs397514546
PheGenI	rs397514546
Biobank	rs397514546
1000 genomes	rs397514546
hgdp	rs397514546
ensembl	rs397514546
geneview	rs397514546
scholar	rs397514546
google	rs397514546
pharmgkb	rs397514546
gwascentral	rs397514546
openSNP	rs397514546
23andMe	rs397514546
SNPshot	rs397514546
SNPdbe	rs397514546
MSV3d	rs397514546
GWAS Ctlg	rs397514546

Max Magnitude

0

ClinVar
Risk	rs397514546(-;-)
Alt	rs397514546(-;-)
Reference	Rs397514546(A;A)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	TMEM5
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Reversed	0
HGVS	NC_000012.11:g.64174908delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032807.4,