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rs606231355

From SNPedia

Orientationminus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs606231355(-;-)
Make rs606231355(-;AAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position71211156
GeneEYA1
is asnp
is mentioned by
dbSNPrs606231355
ebirs606231355
HLIrs606231355
Exacrs606231355
Varsomers606231355
Maprs606231355
PheGenIrs606231355
hapmaprs606231355
1000 genomesrs606231355
hgdprs606231355
ensemblrs606231355
gopubmedrs606231355
geneviewrs606231355
scholarrs606231355
googlers606231355
pharmgkbrs606231355
gwascentralrs606231355
openSNPrs606231355
23andMers606231355
23andMe allrs606231355
SNP Nexus

SNPshotrs606231355
SNPdbers606231355
MSV3drs606231355
GWAS Ctlgrs606231355
Max Magnitude0
ClinVar
Risk rs606231355(;)
Alt rs606231355(;)
Reference rs606231355(AAAG;AAAG)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72123391_72123394delCTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008396.4,