Have questions? Visit https://www.reddit.com/r/SNPedia

rs794728015

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728015(C;T)
Make rs794728015(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position64048840
GeneSOX18, TCEA2
is asnp
is mentioned by
dbSNPrs794728015
ebirs794728015
HLIrs794728015
Exacrs794728015
Varsomers794728015
Maprs794728015
PheGenIrs794728015
hapmaprs794728015
1000 genomesrs794728015
hgdprs794728015
ensemblrs794728015
gopubmedrs794728015
geneviewrs794728015
scholarrs794728015
googlers794728015
pharmgkbrs794728015
gwascentralrs794728015
openSNPrs794728015
23andMers794728015
23andMe allrs794728015
SNP Nexus

SNPshotrs794728015
SNPdbers794728015
MSV3drs794728015
GWAS Ctlgrs794728015
Max Magnitude0
ClinVar
Risk rs794728015(T;T)
Alt rs794728015(T;T)
Reference rs794728015(C;C)
Significance Pathogenic
Disease Hypotrichosis-lymphedema-telangiectasia syndrome
Variation info
Gene SOX18
CLNDBN Hypotrichosis-lymphedema-telangiectasia syndrome
Reversed 1
HGVS NC_000020.10:g.62680193G>A
CLNSRC
CLNACC RCV000184062.2,