rs144080386

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

1

Position

17270928

Gene

PADI3

is a	snp
is	mentioned by
dbSNP	rs144080386
dbSNP (classic)	rs144080386
ClinGen	rs144080386
ebi	rs144080386
HLI	rs144080386
Exac	rs144080386
Gnomad	rs144080386
Varsome	rs144080386
LitVar	rs144080386
Map	rs144080386
PheGenI	rs144080386
Biobank	rs144080386
1000 genomes	rs144080386
hgdp	rs144080386
ensembl	rs144080386
geneview	rs144080386
scholar	rs144080386
google	rs144080386
pharmgkb	rs144080386
gwascentral	rs144080386
openSNP	rs144080386
23andMe	rs144080386
SNPshot	rs144080386
SNPdbe	rs144080386
MSV3d	rs144080386
GWAS Ctlg	rs144080386

Max Magnitude

3.3

10.1016/j.ajhg.2016.10.004 Uncombable hair syndrome variant in PADI3 gene, c.881C>T or p.Ala294Val

ClinVar
Risk	Rs144080386(T;T)
Alt	Rs144080386(T;T)
Reference	Rs144080386(C;C)
Significance	Pathogenic
Disease	Uncombable hair syndrome
Variation	info
Gene	PADI3
CLNDBN	Uncombable hair syndrome
Reversed	0
HGVS	NC_000001.10:g.17597423C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415579.1,