rs59115483

Orientation

minus

Stabilized

minus

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

Make rs59115483(A;A)

Make rs59115483(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52519789

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs59115483
dbSNP (classic)	rs59115483
ClinGen	rs59115483
ebi	rs59115483
HLI	rs59115483
Exac	rs59115483
Gnomad	rs59115483
Varsome	rs59115483
LitVar	rs59115483
Map	rs59115483
PheGenI	rs59115483
Biobank	rs59115483
1000 genomes	rs59115483
hgdp	rs59115483
ensembl	rs59115483
geneview	rs59115483
scholar	rs59115483
google	rs59115483
pharmgkb	rs59115483
gwascentral	rs59115483
openSNP	rs59115483
23andMe	rs59115483
SNPshot	rs59115483
SNPdbe	rs59115483
MSV3d	rs59115483
GWAS Ctlg	rs59115483

Max Magnitude

0

OMIM	148040
Desc
Variant	0020
Related	also

ClinVar
Risk	rs59115483(A;A)
Alt	rs59115483(A;A)
Reference	Rs59115483(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, autosomal recessive Epidermolysis bullosa simplex, Cockayne-Touraine type not provided
Reversed	1
HGVS	NC_000012.11:g.52913573C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015763.26, RCV000015764.26, RCV000056603.2,