rs57977969

Orientation

minus

Stabilized

minus

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

Make rs57977969(A;T)

Make rs57977969(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52680128

Gene

KRT1

is a	snp
is	mentioned by
dbSNP	rs57977969
dbSNP (classic)	rs57977969
ClinGen	rs57977969
ebi	rs57977969
HLI	rs57977969
Exac	rs57977969
Gnomad	rs57977969
Varsome	rs57977969
LitVar	rs57977969
Map	rs57977969
PheGenI	rs57977969
Biobank	rs57977969
1000 genomes	rs57977969
hgdp	rs57977969
ensembl	rs57977969
geneview	rs57977969
scholar	rs57977969
google	rs57977969
pharmgkb	rs57977969
gwascentral	rs57977969
openSNP	rs57977969
23andMe	rs57977969
SNPshot	rs57977969
SNPdbe	rs57977969
MSV3d	rs57977969
GWAS Ctlg	rs57977969

Max Magnitude

0

OMIM	139350
Desc
Variant	0004
Related	also

ClinVar
Risk	rs57977969(T;T)
Alt	rs57977969(T;T)
Reference	Rs57977969(A;A)
Significance	Pathogenic
Disease	Palmoplantar keratoderma not provided
Variation	info
Gene	KRT1
CLNDBN	Palmoplantar keratoderma, nonepidermolytic not provided
Reversed	1
HGVS	NC_000012.11:g.53073912T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017261.27, RCV000057080.1,