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rs761821795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761821795(C;T)
Make rs761821795(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position46755763
GeneFKRP
is asnp
is mentioned by
dbSNPrs761821795
dbSNP (classic)rs761821795
ClinGenrs761821795
ebirs761821795
HLIrs761821795
Exacrs761821795
Gnomadrs761821795
Varsomers761821795
LitVarrs761821795
Maprs761821795
PheGenIrs761821795
Biobankrs761821795
1000 genomesrs761821795
hgdprs761821795
ensemblrs761821795
geneviewrs761821795
scholarrs761821795
googlers761821795
pharmgkbrs761821795
gwascentralrs761821795
openSNPrs761821795
23andMers761821795
SNPshotrs761821795
SNPdbers761821795
MSV3drs761821795
GWAS Ctlgrs761821795
Max Magnitude0
ClinVar
Risk rs761821795(T;T)
Alt rs761821795(T;T)
Reference Rs761821795(C;C)
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.47259020C>T
CLNSRC
CLNACC RCV000272017.1,