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rs104894269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894269(C;T)
Make rs104894269(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72243790
GenePHOX2A
is asnp
is mentioned by
dbSNPrs104894269
ebirs104894269
HLIrs104894269
Exacrs104894269
Varsomers104894269
Maprs104894269
PheGenIrs104894269
hapmaprs104894269
1000 genomesrs104894269
hgdprs104894269
ensemblrs104894269
gopubmedrs104894269
geneviewrs104894269
scholarrs104894269
googlers104894269
pharmgkbrs104894269
gwascentralrs104894269
openSNPrs104894269
23andMers104894269
23andMe allrs104894269
SNP Nexus

SNPshotrs104894269
SNPdbers104894269
MSV3drs104894269
GWAS Ctlgrs104894269
Max Magnitude0
OMIM602753
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894269(T;T)
Alt rs104894269(T;T)
Reference rs104894269(C;C)
Significance Pathogenic
Disease Fibrosis of extraocular muscles
Variation info
Gene PHOX2A
CLNDBN Fibrosis of extraocular muscles, congenital, 2
Reversed 1
HGVS NC_000011.9:g.71954834G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007242.2,