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rs879255275

From SNPedia

Orientationminus
Stabilizedminus
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
dbSNP (classic)rs879255275
ClinGenrs879255275
ebirs879255275
HLIrs879255275
Exacrs879255275
Gnomadrs879255275
Varsomers879255275
LitVarrs879255275
Maprs879255275
PheGenIrs879255275
Biobankrs879255275
1000 genomesrs879255275
hgdprs879255275
ensemblrs879255275
geneviewrs879255275
scholarrs879255275
googlers879255275
pharmgkbrs879255275
gwascentralrs879255275
openSNPrs879255275
23andMers879255275
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 Duane syndrome type 1 Duane syndrome type 2
Variation info
Gene MAFB
CLNDBN Duane retraction syndrome 3 with or without deafness Duane syndrome type 1 Duane syndrome type 2
Reversed 1
HGVS NC_000020.10:g.39316688delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000235061.1, RCV000240679.1,