rs387907160

Orientation

minus

Stabilized

minus

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

Make rs387907160(A;A)

Make rs387907160(A;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

16376129

Gene

ISPD

is a	snp
is	mentioned by
dbSNP	rs387907160
dbSNP (classic)	rs387907160
ClinGen	rs387907160
ebi	rs387907160
HLI	rs387907160
Exac	rs387907160
Gnomad	rs387907160
Varsome	rs387907160
LitVar	rs387907160
Map	rs387907160
PheGenI	rs387907160
Biobank	rs387907160
1000 genomes	rs387907160
hgdp	rs387907160
ensembl	rs387907160
geneview	rs387907160
scholar	rs387907160
google	rs387907160
pharmgkb	rs387907160
gwascentral	rs387907160
openSNP	rs387907160
23andMe	rs387907160
SNPshot	rs387907160
SNPdbe	rs387907160
MSV3d	rs387907160
GWAS Ctlg	rs387907160

Max Magnitude

0

ClinVar
Risk	rs387907160(A;A)
Alt	rs387907160(A;A)
Reference	Rs387907160(C;C)
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.16415754G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024273.3,