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rs727504494

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504494(A;A)
Make rs727504494(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position71317680
GeneEYA1
is asnp
is mentioned by
dbSNPrs727504494
ebirs727504494
HLIrs727504494
Exacrs727504494
Varsomers727504494
Maprs727504494
PheGenIrs727504494
hapmaprs727504494
1000 genomesrs727504494
hgdprs727504494
ensemblrs727504494
gopubmedrs727504494
geneviewrs727504494
scholarrs727504494
googlers727504494
pharmgkbrs727504494
gwascentralrs727504494
openSNPrs727504494
23andMers727504494
23andMe allrs727504494
SNP Nexus

SNPshotrs727504494
SNPdbers727504494
MSV3drs727504494
GWAS Ctlgrs727504494
Max Magnitude0
ClinVar
Risk rs727504494(A,T;A,T)
Alt rs727504494(A,T;A,T)
Reference rs727504494(G;G)
Significance Pathogenic
Disease Melnick-Fraser syndrome
Variation info
Gene EYA1
CLNDBN Melnick-Fraser syndrome
Reversed 1
HGVS NC_000008.10:g.72229915C>T
CLNSRC
CLNACC RCV000155629.1,