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rs878854376

From SNPedia

Orientationplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs878854376(-;-)
Make rs878854376(-;TG)
Make rs878854376(TG;TG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position46755526
GeneFKRP
is asnp
is mentioned by
dbSNPrs878854376
ebirs878854376
HLIrs878854376
Exacrs878854376
Varsomers878854376
Maprs878854376
PheGenIrs878854376
hapmaprs878854376
1000 genomesrs878854376
hgdprs878854376
ensemblrs878854376
gopubmedrs878854376
geneviewrs878854376
scholarrs878854376
googlers878854376
pharmgkbrs878854376
gwascentralrs878854376
openSNPrs878854376
23andMers878854376
23andMe allrs878854376
SNP Nexus

SNPshotrs878854376
SNPdbers878854376
MSV3drs878854376
GWAS Ctlgrs878854376
Max Magnitude0
ClinVar
Risk rs878854376(;)
Alt rs878854376(;)
Reference rs878854376(GT;GT)
Significance Probable-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.47258783_47258784delTG
CLNSRC
CLNACC RCV000226653.1,