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rs28936693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28936693(A;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position64049234
GeneSOX18
is asnp
is mentioned by
dbSNPrs28936693
ebirs28936693
HLIrs28936693
Exacrs28936693
Varsomers28936693
Maprs28936693
PheGenIrs28936693
hapmaprs28936693
1000 genomesrs28936693
hgdprs28936693
ensemblrs28936693
gopubmedrs28936693
geneviewrs28936693
scholarrs28936693
googlers28936693
pharmgkbrs28936693
gwascentralrs28936693
openSNPrs28936693
23andMers28936693
23andMe allrs28936693
SNP Nexus

SNPshotrs28936693
SNPdbers28936693
MSV3drs28936693
GWAS Ctlgrs28936693
Max Magnitude0
OMIM601618
DescHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Variant0002
Relatedalso
Neighborrs28936692
Distance27


ClinVar
Risk rs28936693(A;A)
Alt rs28936693(A;A)
Reference rs28936693(T;T)
Significance Pathogenic
Disease Hypotrichosis-lymphedema-telangiectasia syndrome
Variation info
Gene SOX18
CLNDBN Hypotrichosis-lymphedema-telangiectasia syndrome
Reversed 1
HGVS NC_000020.10:g.62680587A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008465.3,