rs7014851

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)		None
(C;T)	0	Very likely to be a benign allele
(T;T)	0	common

Reference

GRCh38 38.1/141

Chromosome

8

Position

22119197

Gene

HR

is a	snp
is	mentioned by
dbSNP	rs7014851
dbSNP (classic)	rs7014851
ClinGen	rs7014851
ebi	rs7014851
HLI	rs7014851
Exac	rs7014851
Gnomad	rs7014851
Varsome	rs7014851
LitVar	rs7014851
Map	rs7014851
PheGenI	rs7014851
Biobank	rs7014851
1000 genomes	rs7014851
hgdp	rs7014851
ensembl	rs7014851
geneview	rs7014851
scholar	rs7014851
google	rs7014851
pharmgkb	rs7014851
gwascentral	rs7014851
openSNP	rs7014851
23andMe	rs7014851
SNPshot	rs7014851
SNPdbe	rs7014851
MSV3d	rs7014851
GWAS Ctlg	rs7014851

GMAF

0.0753

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	602302
Desc	ALOPECIA UNIVERSALIS CONGENITA
Variant	0001
Related	also

ClinVar
Risk	Rs7014851(C;C)
Alt	Rs7014851(C;C)
Reference	Rs7014851(T;T)
Significance	Non-pathogenic
Disease	Alopecia universalis congenita Alopecia universalis
Variation	info
Gene	HR
CLNDBN	Alopecia universalis congenita Alopecia universalis
Reversed	0
HGVS	NC_000008.10:g.21976710T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007755.4, RCV000368548.1,