rs779702016

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	3	Carrier of an uncombable hair syndrome variant
(T;T)	3.3	Uncombable hair syndrome

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

2332019

Gene

TGM3

is a	snp
is	mentioned by
dbSNP	rs779702016
dbSNP (classic)	rs779702016
ClinGen	rs779702016
ebi	rs779702016
HLI	rs779702016
Exac	rs779702016
Gnomad	rs779702016
Varsome	rs779702016
LitVar	rs779702016
Map	rs779702016
PheGenI	rs779702016
Biobank	rs779702016
1000 genomes	rs779702016
hgdp	rs779702016
ensembl	rs779702016
geneview	rs779702016
scholar	rs779702016
google	rs779702016
pharmgkb	rs779702016
gwascentral	rs779702016
openSNP	rs779702016
23andMe	rs779702016
SNPshot	rs779702016
SNPdbe	rs779702016
MSV3d	rs779702016
GWAS Ctlg	rs779702016

Max Magnitude

3.3

10.1016/j.ajhg.2016.10.004 Uncombable hair syndrome variant in TGM3 gene, c.1351C>T or p.Gln451X

ClinVar
Risk	Rs779702016(T;T)
Alt	Rs779702016(T;T)
Reference	Rs779702016(C;C)
Significance	Pathogenic
Disease	Uncombable hair syndrome 2
Variation	info
Gene	TGM3
CLNDBN	Uncombable hair syndrome 2
Reversed	0
HGVS	NC_000020.10:g.2312665C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415528.1,