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rs397515396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515396(G;T)
Make rs397515396(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position16216198
GeneISPD, ISPD-AS1
is asnp
is mentioned by
dbSNPrs397515396
ebirs397515396
HLIrs397515396
Exacrs397515396
Varsomers397515396
Maprs397515396
PheGenIrs397515396
hapmaprs397515396
1000 genomesrs397515396
hgdprs397515396
ensemblrs397515396
gopubmedrs397515396
geneviewrs397515396
scholarrs397515396
googlers397515396
pharmgkbrs397515396
gwascentralrs397515396
openSNPrs397515396
23andMers397515396
23andMe allrs397515396
SNP Nexus

SNPshotrs397515396
SNPdbers397515396
MSV3drs397515396
GWAS Ctlgrs397515396
Max Magnitude0
ClinVar
Risk rs397515396(T;T)
Alt rs397515396(T;T)
Reference rs397515396(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene ISPD-AS1 ISPD
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Reversed 1
HGVS NC_000007.13:g.16255823C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024269.2,