rs59730172

Orientation

minus

Stabilized

minus

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

Make rs59730172(A;A)

Make rs59730172(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52517695

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs59730172
dbSNP (classic)	rs59730172
ClinGen	rs59730172
ebi	rs59730172
HLI	rs59730172
Exac	rs59730172
Gnomad	rs59730172
Varsome	rs59730172
LitVar	rs59730172
Map	rs59730172
PheGenI	rs59730172
Biobank	rs59730172
1000 genomes	rs59730172
hgdp	rs59730172
ensembl	rs59730172
geneview	rs59730172
scholar	rs59730172
google	rs59730172
pharmgkb	rs59730172
gwascentral	rs59730172
openSNP	rs59730172
23andMe	rs59730172
SNPshot	rs59730172
SNPdbe	rs59730172
MSV3d	rs59730172
GWAS Ctlg	rs59730172

Max Magnitude

0

OMIM	148040
Desc
Variant	0005
Related	also

ClinVar
Risk	rs59730172(A;A) rs59730172(T;T)
Alt	rs59730172(A;A) rs59730172(T;T)
Reference	Rs59730172(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, Cockayne-Touraine type not provided
Reversed	1
HGVS	NC_000012.11:g.52911479G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015748.25, RCV000056657.1,