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rs397514547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514547(A;A)
Make rs397514547(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position16406129
GeneISPD
is asnp
is mentioned by
dbSNPrs397514547
ebirs397514547
HLIrs397514547
Exacrs397514547
Varsomers397514547
Maprs397514547
PheGenIrs397514547
hapmaprs397514547
1000 genomesrs397514547
hgdprs397514547
ensemblrs397514547
gopubmedrs397514547
geneviewrs397514547
scholarrs397514547
googlers397514547
pharmgkbrs397514547
gwascentralrs397514547
openSNPrs397514547
23andMers397514547
23andMe allrs397514547
SNP Nexus

SNPshotrs397514547
SNPdbers397514547
MSV3drs397514547
GWAS Ctlgrs397514547
Max Magnitude0
ClinVar
Risk rs397514547(A,C;A,C)
Alt rs397514547(A,C;A,C)
Reference rs397514547(G;G)
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.16445754C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032811.3,