rs28936692

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common in clinvar

Make rs28936692(C;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

64049207

Gene	SOX18, TCEA2

is a	snp
is	mentioned by
dbSNP	rs28936692
dbSNP (classic)	rs28936692
ClinGen	rs28936692
ebi	rs28936692
HLI	rs28936692
Exac	rs28936692
Gnomad	rs28936692
Varsome	rs28936692
LitVar	rs28936692
Map	rs28936692
PheGenI	rs28936692
Biobank	rs28936692
1000 genomes	rs28936692
hgdp	rs28936692
ensembl	rs28936692
geneview	rs28936692
scholar	rs28936692
google	rs28936692
pharmgkb	rs28936692
gwascentral	rs28936692
openSNP	rs28936692
23andMe	rs28936692
SNPshot	rs28936692
SNPdbe	rs28936692
MSV3d	rs28936692
GWAS Ctlg	rs28936692

Max Magnitude

0

OMIM	601618
Desc	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008464.4,