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rs28936692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28936692(C;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position64049207
GeneSOX18
is asnp
is mentioned by
dbSNPrs28936692
ebirs28936692
HLIrs28936692
Exacrs28936692
Varsomers28936692
Maprs28936692
PheGenIrs28936692
hapmaprs28936692
1000 genomesrs28936692
hgdprs28936692
ensemblrs28936692
gopubmedrs28936692
geneviewrs28936692
scholarrs28936692
googlers28936692
pharmgkbrs28936692
gwascentralrs28936692
openSNPrs28936692
23andMers28936692
23andMe allrs28936692
SNP Nexus

SNPshotrs28936692
SNPdbers28936692
MSV3drs28936692
GWAS Ctlgrs28936692
Max Magnitude0
OMIM601618
DescHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Variant0001
Relatedalso
Neighborrs28936693
Distance27


ClinVar
Risk rs28936692(C;C)
Alt rs28936692(C;C)
Reference rs28936692(G;G)
Significance Pathogenic
Disease Hypotrichosis-lymphedema-telangiectasia syndrome
Variation info
Gene SOX18
CLNDBN Hypotrichosis-lymphedema-telangiectasia syndrome
Reversed 1
HGVS NC_000020.10:g.62680560C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008464.4,