Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATT;ATT) 0 common in clinvar
Make rs397515398(-;-)
Make rs397515398(-;ATT)
ReferenceGRCh38 38.1/141
Chromosome7
Position16406316
GeneISPD
is asnp
is mentioned by
dbSNPrs397515398
ebirs397515398
HLIrs397515398
Exacrs397515398
Varsomers397515398
Maprs397515398
PheGenIrs397515398
hapmaprs397515398
1000 genomesrs397515398
hgdprs397515398
ensemblrs397515398
gopubmedrs397515398
geneviewrs397515398
scholarrs397515398
googlers397515398
pharmgkbrs397515398
gwascentralrs397515398
openSNPrs397515398
23andMers397515398
23andMe allrs397515398
SNP Nexus

SNPshotrs397515398
SNPdbers397515398
MSV3drs397515398
GWAS Ctlgrs397515398
Max Magnitude0
ClinVar
Risk rs397515398(;)
Alt rs397515398(;)
Reference rs397515398(ATT;ATT)
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.16445941_16445943delAAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024272.3,