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rs587777823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777823(-;-)
Make rs587777823(-;ACCT)
Make rs587777823(ACCT;ACCT)
ReferenceGRCh38 38.1/142
Chromosome19
Position46755840
GeneFKRP
is asnp
is mentioned by
dbSNPrs587777823
ebirs587777823
HLIrs587777823
Exacrs587777823
Varsomers587777823
Maprs587777823
PheGenIrs587777823
hapmaprs587777823
1000 genomesrs587777823
hgdprs587777823
ensemblrs587777823
gopubmedrs587777823
geneviewrs587777823
scholarrs587777823
googlers587777823
pharmgkbrs587777823
gwascentralrs587777823
openSNPrs587777823
23andMers587777823
23andMe allrs587777823
SNP Nexus

SNPshotrs587777823
SNPdbers587777823
MSV3drs587777823
GWAS Ctlgrs587777823
Max Magnitude0
ClinVar
Risk rs587777823(TACC;TACC)
Alt rs587777823(TACC;TACC)
Reference rs587777823(;)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47259094_47259097dupACCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004443.3,