rs59629244

Orientation

minus

Stabilized

minus

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

Make rs59629244(C;C)

Make rs59629244(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41583358

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs59629244
dbSNP (classic)	rs59629244
ClinGen	rs59629244
ebi	rs59629244
HLI	rs59629244
Exac	rs59629244
Gnomad	rs59629244
Varsome	rs59629244
LitVar	rs59629244
Map	rs59629244
PheGenI	rs59629244
Biobank	rs59629244
1000 genomes	rs59629244
hgdp	rs59629244
ensembl	rs59629244
geneview	rs59629244
scholar	rs59629244
google	rs59629244
pharmgkb	rs59629244
gwascentral	rs59629244
openSNP	rs59629244
23andMe	rs59629244
SNPshot	rs59629244
SNPdbe	rs59629244
MSV3d	rs59629244
GWAS Ctlg	rs59629244

Max Magnitude

0

OMIM	148066
Desc
Variant	0001
Related	also

ClinVar
Risk	rs59629244(C;C)
Alt	rs59629244(C;C)
Reference	Rs59629244(T;T)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT14
CLNDBN	Epidermolysis bullosa simplex, Koebner type not provided
Reversed	1
HGVS	NC_000017.10:g.39739610A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015715.25, RCV000056667.1,