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rs397515397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515397(G;G)
Make rs397515397(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position16308521
GeneISPD
is asnp
is mentioned by
dbSNPrs397515397
ebirs397515397
HLIrs397515397
Exacrs397515397
Varsomers397515397
Maprs397515397
PheGenIrs397515397
hapmaprs397515397
1000 genomesrs397515397
hgdprs397515397
ensemblrs397515397
gopubmedrs397515397
geneviewrs397515397
scholarrs397515397
googlers397515397
pharmgkbrs397515397
gwascentralrs397515397
openSNPrs397515397
23andMers397515397
23andMe allrs397515397
SNP Nexus

SNPshotrs397515397
SNPdbers397515397
MSV3drs397515397
GWAS Ctlgrs397515397
Max Magnitude0
ClinVar
Risk rs397515397(G;G)
Alt rs397515397(G;G)
Reference rs397515397(T;T)
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.16348146A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024271.3,