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Rs104894466

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894466
PheGenIrs104894466
nextbiors104894466
hapmaprs104894466
1000 genomesrs104894466
hgdprs104894466
ensemblrs104894466
gopubmedrs104894466
geneviewrs104894466
scholarrs104894466
googlers104894466
pharmgkbrs104894466
gwascentralrs104894466
openSNPrs104894466
23andMers104894466
23andMe allrs104894466
SNP Nexus

SNPshotrs104894466
SNPdbers104894466
MSV3drs104894466
GeneBCL2L2-PABPN1, PABPN1
Chromosome14
Orientationplus
Position23321504
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894466(C;C)
Make rs104894466(C;G)
OMIM602279
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894466(C;C)
Alt rs104894466(C;C)
Reference rs104894466(G;G)
Significance 5
Disease Oculopharyngeal muscular dystrophy
ClinVar info, info
Gene PABPN1, BCL2L2-PABPN1
CLNDBN Oculopharyngeal muscular dystrophy
Reversed 0
CLNHGVS NC_000014.8:g.23790713G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007793.1