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rs142129409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.3 Uncombable hair syndrome
(A;T) 3 Carrier of an uncombable hair syndrome variant
(T;T) 0 common/normal
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position17262194
GenePADI3
is asnp
is mentioned by
dbSNPrs142129409
dbSNP (old)rs142129409
ClinGenrs142129409
ebirs142129409
HLIrs142129409
Exacrs142129409
Gnomadrs142129409
Varsomers142129409
LitVarrs142129409
Maprs142129409
PheGenIrs142129409
Biobankrs142129409
1000 genomesrs142129409
hgdprs142129409
ensemblrs142129409
gopubmedrs142129409
geneviewrs142129409
scholarrs142129409
googlers142129409
pharmgkbrs142129409
gwascentralrs142129409
openSNPrs142129409
23andMers142129409
23andMe allrs142129409
SNPshotrs142129409
SNPdbers142129409
MSV3drs142129409
GWAS Ctlgrs142129409
Max Magnitude3.3

10.1016/j.ajhg.2016.10.004 Uncombable hair syndrome variant in PADI3 gene, c.335T>A or p.Leu112His

ClinVar
Risk Rs142129409(A;A)
Alt Rs142129409(A;A)
Reference Rs142129409(T;T)
Significance Pathogenic
Disease Uncombable hair syndrome
Variation info
Gene PADI3
CLNDBN Uncombable hair syndrome
Reversed 0
HGVS NC_000001.10:g.17588689T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415522.1,