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rs104894684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894684(A;A)
Make rs104894684(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756403
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894684
ebirs104894684
HLIrs104894684
Exacrs104894684
Varsomers104894684
Maprs104894684
PheGenIrs104894684
hapmaprs104894684
1000 genomesrs104894684
hgdprs104894684
ensemblrs104894684
gopubmedrs104894684
geneviewrs104894684
scholarrs104894684
googlers104894684
pharmgkbrs104894684
gwascentralrs104894684
openSNPrs104894684
23andMers104894684
23andMe allrs104894684
SNP Nexus

SNPshotrs104894684
SNPdbers104894684
MSV3drs104894684
GWAS Ctlgrs104894684
Max Magnitude0
OMIM606596
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894684(A;A)
Alt rs104894684(A;A)
Reference rs104894684(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Reversed 0
HGVS NC_000019.9:g.47259660G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004456.3,