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rs397515409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515409(C;T)
Make rs397515409(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position16308599
GeneISPD
is asnp
is mentioned by
dbSNPrs397515409
ebirs397515409
HLIrs397515409
Exacrs397515409
Varsomers397515409
Maprs397515409
PheGenIrs397515409
hapmaprs397515409
1000 genomesrs397515409
hgdprs397515409
ensemblrs397515409
gopubmedrs397515409
geneviewrs397515409
scholarrs397515409
googlers397515409
pharmgkbrs397515409
gwascentralrs397515409
openSNPrs397515409
23andMers397515409
23andMe allrs397515409
SNP Nexus

SNPshotrs397515409
SNPdbers397515409
MSV3drs397515409
GWAS Ctlgrs397515409
Max Magnitude0
ClinVar
Risk rs397515409(G,T;G,T)
Alt rs397515409(G,T;G,T)
Reference rs397515409(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.16348224G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032812.4,