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rs57809907

From SNPedia

Orientationplus
Stabilizedplus
Make rs57809907(A;A)
Make rs57809907(A;C)
Make rs57809907(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position55430684
GeneDYX1C1, DYX1C1-CCPG1
is asnp
is mentioned by
dbSNPrs57809907
ebirs57809907
HLIrs57809907
Exacrs57809907
Varsomers57809907
Maprs57809907
PheGenIrs57809907
hapmaprs57809907
1000 genomesrs57809907
hgdprs57809907
ensemblrs57809907
gopubmedrs57809907
geneviewrs57809907
scholarrs57809907
googlers57809907
pharmgkbrs57809907
gwascentralrs57809907
openSNPrs57809907
23andMers57809907
23andMe allrs57809907
SNP Nexus

SNPshotrs57809907
SNPdbers57809907
MSV3drs57809907
GWAS Ctlgrs57809907
GMAF0.1579
Max Magnitude
OMIM608706
Desc
Variant0002
Relatedalso
ClinVar
Risk rs57809907(A;A)
Alt rs57809907(A;A)
Reference rs57809907(C;C)
Significance Other
Disease Dyslexia 1
Variation info
Gene DYX1C1 DYX1C1-CCPG1
CLNDBN Dyslexia 1
Reversed 0
HGVS NC_000015.9:g.55722882C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002218.3,


GET Evidence
DYX1C1-E417X
aa_change Glu417Stop
aa_change_short E417X
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.20147
summary One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.