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rs397514548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514548(A;T)
Make rs397514548(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position16421067
GeneISPD
is asnp
is mentioned by
dbSNPrs397514548
ebirs397514548
HLIrs397514548
Exacrs397514548
Varsomers397514548
Maprs397514548
PheGenIrs397514548
hapmaprs397514548
1000 genomesrs397514548
hgdprs397514548
ensemblrs397514548
gopubmedrs397514548
geneviewrs397514548
scholarrs397514548
googlers397514548
pharmgkbrs397514548
gwascentralrs397514548
openSNPrs397514548
23andMers397514548
23andMe allrs397514548
SNP Nexus

SNPshotrs397514548
SNPdbers397514548
MSV3drs397514548
GWAS Ctlgrs397514548
Max Magnitude0
ClinVar
Risk rs397514548(T;T)
Alt rs397514548(T;T)
Reference rs397514548(A;A)
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.16460692T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032813.3,