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rs869025180

From SNPedia

Orientationminus
Stabilizedminus
Make rs869025180(A;A)
Make rs869025180(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position71299637
GeneEYA1
is asnp
is mentioned by
dbSNPrs869025180
dbSNP (classic)rs869025180
ClinGenrs869025180
ebirs869025180
HLIrs869025180
Exacrs869025180
Gnomadrs869025180
Varsomers869025180
LitVarrs869025180
Maprs869025180
PheGenIrs869025180
Biobankrs869025180
1000 genomesrs869025180
hgdprs869025180
ensemblrs869025180
geneviewrs869025180
scholarrs869025180
googlers869025180
pharmgkbrs869025180
gwascentralrs869025180
openSNPrs869025180
23andMers869025180
SNPshotrs869025180
SNPdbers869025180
MSV3drs869025180
GWAS Ctlgrs869025180
Max Magnitude0
ClinVar
Risk rs869025180(A;A)
Alt rs869025180(A;A)
Reference Rs869025180(G;G)
Significance Pathogenic
Disease Otofaciocervical syndrome
Variation info
Gene EYA1
CLNDBN Otofaciocervical syndrome
Reversed 1
HGVS NC_000008.10:g.72211872C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008404.5,