rs60171927

Orientation

minus

Stabilized

minus

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

Make rs60171927(A;G)

Make rs60171927(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41586467

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs60171927
dbSNP (classic)	rs60171927
ClinGen	rs60171927
ebi	rs60171927
HLI	rs60171927
Exac	rs60171927
Gnomad	rs60171927
Varsome	rs60171927
LitVar	rs60171927
Map	rs60171927
PheGenI	rs60171927
Biobank	rs60171927
1000 genomes	rs60171927
hgdp	rs60171927
ensembl	rs60171927
geneview	rs60171927
scholar	rs60171927
google	rs60171927
pharmgkb	rs60171927
gwascentral	rs60171927
openSNP	rs60171927
23andMe	rs60171927
SNPshot	rs60171927
SNPdbe	rs60171927
MSV3d	rs60171927
GWAS Ctlg	rs60171927

Max Magnitude

0

OMIM	148066
Desc
Variant	0018
Related	also

ClinVar
Risk	rs60171927(G;G)
Alt	rs60171927(G;G)
Reference	Rs60171927(A;A)
Significance	Pathogenic
Disease	Epidermolysis bullosa herpetiformis not provided
Variation	info
Gene	KRT14
CLNDBN	Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed	1
HGVS	NC_000017.10:g.39742719T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015733.27, RCV000056713.1,