rs387907162

Orientation

minus

Stabilized

minus

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

Make rs387907162(C;C)

Make rs387907162(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

16406231

Gene

ISPD

is a	snp
is	mentioned by
dbSNP	rs387907162
dbSNP (classic)	rs387907162
ClinGen	rs387907162
ebi	rs387907162
HLI	rs387907162
Exac	rs387907162
Gnomad	rs387907162
Varsome	rs387907162
LitVar	rs387907162
Map	rs387907162
PheGenI	rs387907162
Biobank	rs387907162
1000 genomes	rs387907162
hgdp	rs387907162
ensembl	rs387907162
geneview	rs387907162
scholar	rs387907162
google	rs387907162
pharmgkb	rs387907162
gwascentral	rs387907162
openSNP	rs387907162
23andMe	rs387907162
SNPshot	rs387907162
SNPdbe	rs387907162
MSV3d	rs387907162
GWAS Ctlg	rs387907162

Max Magnitude

0

ClinVar
Risk	rs387907162(C;C)
Alt	rs387907162(C;C)
Reference	Rs387907162(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.16445856C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024275.3,