rs201930497

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

152112226

Gene

TCHH

is a	snp
is	mentioned by
dbSNP	rs201930497
dbSNP (classic)	rs201930497
ClinGen	rs201930497
ebi	rs201930497
HLI	rs201930497
Exac	rs201930497
Gnomad	rs201930497
Varsome	rs201930497
LitVar	rs201930497
Map	rs201930497
PheGenI	rs201930497
Biobank	rs201930497
1000 genomes	rs201930497
hgdp	rs201930497
ensembl	rs201930497
geneview	rs201930497
scholar	rs201930497
google	rs201930497
pharmgkb	rs201930497
gwascentral	rs201930497
openSNP	rs201930497
23andMe	rs201930497
SNPshot	rs201930497
SNPdbe	rs201930497
MSV3d	rs201930497
GWAS Ctlg	rs201930497

Max Magnitude

3.3

10.1016/j.ajhg.2016.10.004 Uncombable hair syndrome variant in TCHH gene, c.991C>T or p.Gln331*

ClinVar
Risk	Rs201930497(A;A) Rs201930497(C;C)
Alt	Rs201930497(A;A) Rs201930497(C;C)
Reference	Rs201930497(G;G)
Significance	Pathogenic
Disease	Uncombable hair syndrome 3
Variation	info
Gene	TCHH
CLNDBN	Uncombable hair syndrome 3
Reversed	0
HGVS	NC_000001.10:g.152084702G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415562.1,