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rs587777797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777797(C;C)
Make rs587777797(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position16421162
GeneISPD
is asnp
is mentioned by
dbSNPrs587777797
ebirs587777797
HLIrs587777797
Exacrs587777797
Varsomers587777797
Maprs587777797
PheGenIrs587777797
hapmaprs587777797
1000 genomesrs587777797
hgdprs587777797
ensemblrs587777797
gopubmedrs587777797
geneviewrs587777797
scholarrs587777797
googlers587777797
pharmgkbrs587777797
gwascentralrs587777797
openSNPrs587777797
23andMers587777797
23andMe allrs587777797
SNP Nexus

SNPshotrs587777797
SNPdbers587777797
MSV3drs587777797
GWAS Ctlgrs587777797
Max Magnitude0
ClinVar
Risk rs587777797(C;C)
Alt rs587777797(C;C)
Reference rs587777797(G;G)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene ISPD
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
Reversed 1
HGVS NC_000007.13:g.16460787C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144515.2,