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rs727503042

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503042(C;C)
Make rs727503042(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position71215613
GeneEYA1
is asnp
is mentioned by
dbSNPrs727503042
ebirs727503042
HLIrs727503042
Exacrs727503042
Varsomers727503042
Maprs727503042
PheGenIrs727503042
hapmaprs727503042
1000 genomesrs727503042
hgdprs727503042
ensemblrs727503042
gopubmedrs727503042
geneviewrs727503042
scholarrs727503042
googlers727503042
pharmgkbrs727503042
gwascentralrs727503042
openSNPrs727503042
23andMers727503042
23andMe allrs727503042
SNP Nexus

SNPshotrs727503042
SNPdbers727503042
MSV3drs727503042
GWAS Ctlgrs727503042
Max Magnitude0
ClinVar
Risk rs727503042(C;C)
Alt rs727503042(C;C)
Reference rs727503042(G;G)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72127848C>G
CLNSRC
CLNACC RCV000150668.1,