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rs144944758

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position17282897
GenePADI3
is asnp
is mentioned by
dbSNPrs144944758
dbSNP (old)rs144944758
ClinGenrs144944758
ebirs144944758
HLIrs144944758
Exacrs144944758
Gnomadrs144944758
Varsomers144944758
LitVarrs144944758
Maprs144944758
PheGenIrs144944758
Biobankrs144944758
1000 genomesrs144944758
hgdprs144944758
ensemblrs144944758
gopubmedrs144944758
geneviewrs144944758
scholarrs144944758
googlers144944758
pharmgkbrs144944758
gwascentralrs144944758
openSNPrs144944758
23andMers144944758
23andMe allrs144944758
SNPshotrs144944758
SNPdbers144944758
MSV3drs144944758
GWAS Ctlgrs144944758
Max Magnitude3.3

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,