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rs7014851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) None
(C;T) None
(T;T) 0 common
ReferenceGRCh38 38.1/141
Chromosome8
Position22119197
GeneHR
is asnp
is mentioned by
dbSNPrs7014851
ebirs7014851
HLIrs7014851
Exacrs7014851
Varsomers7014851
Maprs7014851
PheGenIrs7014851
hapmaprs7014851
1000 genomesrs7014851
hgdprs7014851
ensemblrs7014851
gopubmedrs7014851
geneviewrs7014851
scholarrs7014851
googlers7014851
pharmgkbrs7014851
gwascentralrs7014851
openSNPrs7014851
23andMers7014851
23andMe allrs7014851
SNP Nexus

SNPshotrs7014851
SNPdbers7014851
MSV3drs7014851
GWAS Ctlgrs7014851
GMAF0.0753
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM602302
DescALOPECIA UNIVERSALIS CONGENITA
Variant0001
Relatedalso


ClinVar
Risk rs7014851(C;C)
Alt rs7014851(C;C)
Reference rs7014851(T;T)
Significance Pathogenic
Disease Alopecia universalis congenita
Variation info
Gene HR
CLNDBN Alopecia universalis congenita
Reversed 0
HGVS NC_000008.10:g.21976710T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007755.4,



GET Evidence
HR-T1022A
aa_change Thr1022Ala
aa_change_short T1022A
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0969511
summary Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.