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rs387907161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907161(A;T)
Make rs387907161(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position16301424
GeneISPD
is asnp
is mentioned by
dbSNPrs387907161
ebirs387907161
HLIrs387907161
Exacrs387907161
Varsomers387907161
Maprs387907161
PheGenIrs387907161
hapmaprs387907161
1000 genomesrs387907161
hgdprs387907161
ensemblrs387907161
gopubmedrs387907161
geneviewrs387907161
scholarrs387907161
googlers387907161
pharmgkbrs387907161
gwascentralrs387907161
openSNPrs387907161
23andMers387907161
23andMe allrs387907161
SNP Nexus

SNPshotrs387907161
SNPdbers387907161
MSV3drs387907161
GWAS Ctlgrs387907161
Max Magnitude0
ClinVar
Risk rs387907161(T;T)
Alt rs387907161(T;T)
Reference rs387907161(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.16341049T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024274.5,