rs57419521

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs57419521(A;A)

Make rs57419521(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52287112

Gene	KRT81, KRT86

is a	snp
is	mentioned by
dbSNP	rs57419521
dbSNP (classic)	rs57419521
ClinGen	rs57419521
ebi	rs57419521
HLI	rs57419521
Exac	rs57419521
Gnomad	rs57419521
Varsome	rs57419521
LitVar	rs57419521
Map	rs57419521
PheGenI	rs57419521
Biobank	rs57419521
1000 genomes	rs57419521
hgdp	rs57419521
ensembl	rs57419521
geneview	rs57419521
scholar	rs57419521
google	rs57419521
pharmgkb	rs57419521
gwascentral	rs57419521
openSNP	rs57419521
23andMe	rs57419521
SNPshot	rs57419521
SNPdbe	rs57419521
MSV3d	rs57419521
GWAS Ctlg	rs57419521

Max Magnitude

0

OMIM	602153
Desc
Variant	0001
Related	also

ClinVar
Risk	rs57419521(A;A)
Alt	rs57419521(A;A)
Reference	Rs57419521(G;G)
Significance	Pathogenic
Disease	Beaded hair not provided
Variation	info
Gene	KRT86 KRT81
CLNDBN	Beaded hair not provided
Reversed	1
HGVS	NC_000012.11:g.52680896C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007930.3, RCV000056952.1,