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rs387907160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907160(A;A)
Make rs387907160(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position16376129
GeneISPD
is asnp
is mentioned by
dbSNPrs387907160
ebirs387907160
HLIrs387907160
Exacrs387907160
Varsomers387907160
Maprs387907160
PheGenIrs387907160
hapmaprs387907160
1000 genomesrs387907160
hgdprs387907160
ensemblrs387907160
gopubmedrs387907160
geneviewrs387907160
scholarrs387907160
googlers387907160
pharmgkbrs387907160
gwascentralrs387907160
openSNPrs387907160
23andMers387907160
23andMe allrs387907160
SNP Nexus

SNPshotrs387907160
SNPdbers387907160
MSV3drs387907160
GWAS Ctlgrs387907160
Max Magnitude0
ClinVar
Risk rs387907160(A;A)
Alt rs387907160(A;A)
Reference rs387907160(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.16415754G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024273.3,