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rs28936703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28936703(C;T)
Make rs28936703(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position57198246
GeneHESX1
is asnp
is mentioned by
dbSNPrs28936703
ebirs28936703
HLIrs28936703
Exacrs28936703
Varsomers28936703
Maprs28936703
PheGenIrs28936703
hapmaprs28936703
1000 genomesrs28936703
hgdprs28936703
ensemblrs28936703
gopubmedrs28936703
geneviewrs28936703
scholarrs28936703
googlers28936703
pharmgkbrs28936703
gwascentralrs28936703
openSNPrs28936703
23andMers28936703
23andMe allrs28936703
SNP Nexus

SNPshotrs28936703
SNPdbers28936703
MSV3drs28936703
GWAS Ctlgrs28936703
Max Magnitude0
OMIM601802
DescSEPTOOPTIC DYSPLASIA, MILD
Variant0002
Relatedalso
Neighborrs28936704
Distance32
Neighborrs28936702
Distance30


ClinVar
Risk rs28936703(T;T)
Alt rs28936703(T;T)
Reference rs28936703(C;C)
Significance Pathogenic
Disease Septooptic dysplasia
Variation info
Gene HESX1
CLNDBN Septooptic dysplasia, mild
Reversed 1
HGVS NC_000003.11:g.57232274G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008131.2,