rs144944758

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

17282897

Gene

PADI3

is a	snp
is	mentioned by
dbSNP	rs144944758
dbSNP (classic)	rs144944758
ClinGen	rs144944758
ebi	rs144944758
HLI	rs144944758
Exac	rs144944758
Gnomad	rs144944758
Varsome	rs144944758
LitVar	rs144944758
Map	rs144944758
PheGenI	rs144944758
Biobank	rs144944758
1000 genomes	rs144944758
hgdp	rs144944758
ensembl	rs144944758
geneview	rs144944758
scholar	rs144944758
google	rs144944758
pharmgkb	rs144944758
gwascentral	rs144944758
openSNP	rs144944758
23andMe	rs144944758
SNPshot	rs144944758
SNPdbe	rs144944758
MSV3d	rs144944758
GWAS Ctlg	rs144944758

Max Magnitude

3.3

10.1016/j.ajhg.2016.10.004 Uncombable hair syndrome variant in PADI3 gene, c.1813C>A or p.Pro605Thr

ClinVar
Risk	Rs144944758(A;A)
Alt	Rs144944758(A;A)
Reference	Rs144944758(C;C)
Significance	Pathogenic
Disease	Uncombable hair syndrome
Variation	info
Gene	PADI3
CLNDBN	Uncombable hair syndrome
Reversed	0
HGVS	NC_000001.10:g.17609392C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415553.1,