rs397514548

Orientation

minus

Stabilized

minus

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

Make rs397514548(A;T)

Make rs397514548(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

16421067

Gene

ISPD

is a	snp
is	mentioned by
dbSNP	rs397514548
dbSNP (classic)	rs397514548
ClinGen	rs397514548
ebi	rs397514548
HLI	rs397514548
Exac	rs397514548
Gnomad	rs397514548
Varsome	rs397514548
LitVar	rs397514548
Map	rs397514548
PheGenI	rs397514548
Biobank	rs397514548
1000 genomes	rs397514548
hgdp	rs397514548
ensembl	rs397514548
geneview	rs397514548
scholar	rs397514548
google	rs397514548
pharmgkb	rs397514548
gwascentral	rs397514548
openSNP	rs397514548
23andMe	rs397514548
SNPshot	rs397514548
SNPdbe	rs397514548
MSV3d	rs397514548
GWAS Ctlg	rs397514548

Max Magnitude

0

ClinVar
Risk	rs397514548(T;T)
Alt	rs397514548(T;T)
Reference	Rs397514548(A;A)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation	info
Gene	ISPD
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Reversed	1
HGVS	NC_000007.13:g.16460692T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032813.3,