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rs121909199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909199(A;A)
Make rs121909199(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position71216776
GeneEYA1
is asnp
is mentioned by
dbSNPrs121909199
ebirs121909199
HLIrs121909199
Exacrs121909199
Varsomers121909199
Maprs121909199
PheGenIrs121909199
hapmaprs121909199
1000 genomesrs121909199
hgdprs121909199
ensemblrs121909199
gopubmedrs121909199
geneviewrs121909199
scholarrs121909199
googlers121909199
pharmgkbrs121909199
gwascentralrs121909199
openSNPrs121909199
23andMers121909199
23andMe allrs121909199
SNP Nexus

SNPshotrs121909199
SNPdbers121909199
MSV3drs121909199
GWAS Ctlgrs121909199
Max Magnitude0
OMIM601653
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909199(A;A)
Alt rs121909199(A;A)
Reference rs121909199(G;G)
Significance Pathogenic
Disease Branchiootorenal syndrome with cataract
Variation info
Gene EYA1
CLNDBN Branchiootorenal syndrome with cataract
Reversed 1
HGVS NC_000008.10:g.72129011C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008400.3,