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rs606231357

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231357(A;A)
Make rs606231357(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position71271753
GeneEYA1
is asnp
is mentioned by
dbSNPrs606231357
ebirs606231357
HLIrs606231357
Exacrs606231357
Varsomers606231357
Maprs606231357
PheGenIrs606231357
hapmaprs606231357
1000 genomesrs606231357
hgdprs606231357
ensemblrs606231357
gopubmedrs606231357
geneviewrs606231357
scholarrs606231357
googlers606231357
pharmgkbrs606231357
gwascentralrs606231357
openSNPrs606231357
23andMers606231357
23andMe allrs606231357
SNP Nexus

SNPshotrs606231357
SNPdbers606231357
MSV3drs606231357
GWAS Ctlgrs606231357
Max Magnitude0
ClinVar
Risk rs606231357(A;A)
Alt rs606231357(A;A)
Reference rs606231357(G;G)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72183988C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008408.4,