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rs879255275

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255275(-;-)
Make rs879255275(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position40688048
GeneMAFB
is asnp
is mentioned by
dbSNPrs879255275
ebirs879255275
HLIrs879255275
Exacrs879255275
Varsomers879255275
Maprs879255275
PheGenIrs879255275
hapmaprs879255275
1000 genomesrs879255275
hgdprs879255275
ensemblrs879255275
gopubmedrs879255275
geneviewrs879255275
scholarrs879255275
googlers879255275
pharmgkbrs879255275
gwascentralrs879255275
openSNPrs879255275
23andMers879255275
23andMe allrs879255275
SNP Nexus

SNPshotrs879255275
SNPdbers879255275
MSV3drs879255275
GWAS Ctlgrs879255275
Max Magnitude0
ClinVar
Risk rs879255275(;)
Alt rs879255275(;)
Reference rs879255275(A;A)
Significance Pathogenic
Disease Duane retraction syndrome 3 with or without deafness
Variation info
Gene MAFB
CLNDBN Duane retraction syndrome 3 with or without deafness
Reversed 1
HGVS NC_000020.10:g.39316688delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000235061.1,