rs28936693

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(T;T)	0	common in clinvar

Make rs28936693(A;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

64049234

Gene	SOX18, TCEA2

is a	snp
is	mentioned by
dbSNP	rs28936693
dbSNP (classic)	rs28936693
ClinGen	rs28936693
ebi	rs28936693
HLI	rs28936693
Exac	rs28936693
Gnomad	rs28936693
Varsome	rs28936693
LitVar	rs28936693
Map	rs28936693
PheGenI	rs28936693
Biobank	rs28936693
1000 genomes	rs28936693
hgdp	rs28936693
ensembl	rs28936693
geneview	rs28936693
scholar	rs28936693
google	rs28936693
pharmgkb	rs28936693
gwascentral	rs28936693
openSNP	rs28936693
23andMe	rs28936693
SNPshot	rs28936693
SNPdbe	rs28936693
MSV3d	rs28936693
GWAS Ctlg	rs28936693

Max Magnitude

0

OMIM	601618
Desc	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008465.3,