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rs121909196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909196(A;A)
Make rs121909196(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position71216733
GeneEYA1
is asnp
is mentioned by
dbSNPrs121909196
ebirs121909196
HLIrs121909196
Exacrs121909196
Varsomers121909196
Maprs121909196
PheGenIrs121909196
hapmaprs121909196
1000 genomesrs121909196
hgdprs121909196
ensemblrs121909196
gopubmedrs121909196
geneviewrs121909196
scholarrs121909196
googlers121909196
pharmgkbrs121909196
gwascentralrs121909196
openSNPrs121909196
23andMers121909196
23andMe allrs121909196
SNP Nexus

SNPshotrs121909196
SNPdbers121909196
MSV3drs121909196
GWAS Ctlgrs121909196
Max Magnitude0
OMIM601653
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909196(A;A)
Alt rs121909196(A;A)
Reference rs121909196(G;G)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72128968C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008397.5,