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rs201930497

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position152112226
GeneTCHH
is asnp
is mentioned by
dbSNPrs201930497
dbSNP (old)rs201930497
ClinGenrs201930497
ebirs201930497
HLIrs201930497
Exacrs201930497
Gnomadrs201930497
Varsomers201930497
LitVarrs201930497
Maprs201930497
PheGenIrs201930497
Biobankrs201930497
1000 genomesrs201930497
hgdprs201930497
ensemblrs201930497
gopubmedrs201930497
geneviewrs201930497
scholarrs201930497
googlers201930497
pharmgkbrs201930497
gwascentralrs201930497
openSNPrs201930497
23andMers201930497
23andMe allrs201930497
SNPshotrs201930497
SNPdbers201930497
MSV3drs201930497
GWAS Ctlgrs201930497
Max Magnitude3.3

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,