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rs587777814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777814(-;-)
Make rs587777814(-;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position105635241
GeneFKTN
is asnp
is mentioned by
dbSNPrs587777814
ebirs587777814
HLIrs587777814
Exacrs587777814
Varsomers587777814
Maprs587777814
PheGenIrs587777814
hapmaprs587777814
1000 genomesrs587777814
hgdprs587777814
ensemblrs587777814
gopubmedrs587777814
geneviewrs587777814
scholarrs587777814
googlers587777814
pharmgkbrs587777814
gwascentralrs587777814
openSNPrs587777814
23andMers587777814
23andMe allrs587777814
SNP Nexus

SNPshotrs587777814
SNPdbers587777814
MSV3drs587777814
GWAS Ctlgrs587777814
Max Magnitude0
ClinVar
Risk rs587777814(;)
Alt rs587777814(;)
Reference rs587777814(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKTN
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Reversed 0
HGVS NC_000009.11:g.108397522delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003361.3,