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rs104894683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894683(A;A)
Make rs104894683(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position46755685
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894683
ebirs104894683
HLIrs104894683
Exacrs104894683
Varsomers104894683
Maprs104894683
PheGenIrs104894683
hapmaprs104894683
1000 genomesrs104894683
hgdprs104894683
ensemblrs104894683
gopubmedrs104894683
geneviewrs104894683
scholarrs104894683
googlers104894683
pharmgkbrs104894683
gwascentralrs104894683
openSNPrs104894683
23andMers104894683
23andMe allrs104894683
SNP Nexus

SNPshotrs104894683
SNPdbers104894683
MSV3drs104894683
GWAS Ctlgrs104894683
GMAF0.004132
Max Magnitude0
OMIM606596
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894683(A;A)
Alt rs104894683(A;A)
Reference rs104894683(G;G)
Significance Other
Disease Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg syndrome not specified
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg syndrome not specified
Reversed 0
HGVS NC_000019.9:g.47258942G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004450.3, RCV000178349.1, RCV000178350.1, RCV000230908.1, RCV000236146.1,