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rs587777798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs587777798(-;-)
Make rs587777798(-;GTT)
ReferenceGRCh38 38.1/142
Chromosome7
Position16258393
GeneISPD, ISPD-AS1
is asnp
is mentioned by
dbSNPrs587777798
ebirs587777798
HLIrs587777798
Exacrs587777798
Varsomers587777798
Maprs587777798
PheGenIrs587777798
hapmaprs587777798
1000 genomesrs587777798
hgdprs587777798
ensemblrs587777798
gopubmedrs587777798
geneviewrs587777798
scholarrs587777798
googlers587777798
pharmgkbrs587777798
gwascentralrs587777798
openSNPrs587777798
23andMers587777798
23andMe allrs587777798
SNP Nexus

SNPshotrs587777798
SNPdbers587777798
MSV3drs587777798
GWAS Ctlgrs587777798
Max Magnitude0
ClinVar
Risk rs587777798(;)
Alt rs587777798(;)
Reference rs587777798(GTT;GTT)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene ISPD-AS1 ISPD
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
Reversed 1
HGVS NC_000007.13:g.16298018_16298020delAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144516.4,