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rs397515408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515408(G;G)
Make rs397515408(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position16376138
GeneISPD
is asnp
is mentioned by
dbSNPrs397515408
ebirs397515408
HLIrs397515408
Exacrs397515408
Varsomers397515408
Maprs397515408
PheGenIrs397515408
hapmaprs397515408
1000 genomesrs397515408
hgdprs397515408
ensemblrs397515408
gopubmedrs397515408
geneviewrs397515408
scholarrs397515408
googlers397515408
pharmgkbrs397515408
gwascentralrs397515408
openSNPrs397515408
23andMers397515408
23andMe allrs397515408
SNP Nexus

SNPshotrs397515408
SNPdbers397515408
MSV3drs397515408
GWAS Ctlgrs397515408
Max Magnitude0
ClinVar
Risk rs397515408(G;G)
Alt rs397515408(G;G)
Reference rs397515408(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.16415763A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032809.3,