rs397514547

Orientation

minus

Stabilized

minus

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

Make rs397514547(A;A)

Make rs397514547(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

16406129

Gene

ISPD

is a	snp
is	mentioned by
dbSNP	rs397514547
dbSNP (classic)	rs397514547
ClinGen	rs397514547
ebi	rs397514547
HLI	rs397514547
Exac	rs397514547
Gnomad	rs397514547
Varsome	rs397514547
LitVar	rs397514547
Map	rs397514547
PheGenI	rs397514547
Biobank	rs397514547
1000 genomes	rs397514547
hgdp	rs397514547
ensembl	rs397514547
geneview	rs397514547
scholar	rs397514547
google	rs397514547
pharmgkb	rs397514547
gwascentral	rs397514547
openSNP	rs397514547
23andMe	rs397514547
SNPshot	rs397514547
SNPdbe	rs397514547
MSV3d	rs397514547
GWAS Ctlg	rs397514547

Max Magnitude

0

ClinVar
Risk	rs397514547(A;A) rs397514547(C;C)
Alt	rs397514547(A;A) rs397514547(C;C)
Reference	Rs397514547(G;G)
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.16445754C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032811.3,