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rs387907162

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907162(C;C)
Make rs387907162(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position16406231
GeneISPD
is asnp
is mentioned by
dbSNPrs387907162
ebirs387907162
HLIrs387907162
Exacrs387907162
Varsomers387907162
Maprs387907162
PheGenIrs387907162
hapmaprs387907162
1000 genomesrs387907162
hgdprs387907162
ensemblrs387907162
gopubmedrs387907162
geneviewrs387907162
scholarrs387907162
googlers387907162
pharmgkbrs387907162
gwascentralrs387907162
openSNPrs387907162
23andMers387907162
23andMe allrs387907162
SNP Nexus

SNPshotrs387907162
SNPdbers387907162
MSV3drs387907162
GWAS Ctlgrs387907162
Max Magnitude0
ClinVar
Risk rs387907162(C;C)
Alt rs387907162(C;C)
Reference rs387907162(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.16445856C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024275.3,