rs57674130

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CGCCTGGCCTCCTAC;CGCCTGGCCTCCTAC)	0	common in clinvar
(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC)	0	common in clinvar

Make rs57674130(-;-)

Make rs57674130(-;CGCCTGGCCTCCTAC)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

41624216

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs57674130
dbSNP (classic)	rs57674130
ClinGen	rs57674130
ebi	rs57674130
HLI	rs57674130
Exac	rs57674130
Gnomad	rs57674130
Varsome	rs57674130
LitVar	rs57674130
Map	rs57674130
PheGenI	rs57674130
Biobank	rs57674130
1000 genomes	rs57674130
hgdp	rs57674130
ensembl	rs57674130
geneview	rs57674130
scholar	rs57674130
google	rs57674130
pharmgkb	rs57674130
gwascentral	rs57674130
openSNP	rs57674130
23andMe	rs57674130
SNPshot	rs57674130
SNPdbe	rs57674130
MSV3d	rs57674130
GWAS Ctlg	rs57674130

Merged from

Rs587776818

Max Magnitude

0

ClinVar
Risk	Rs57674130(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC) rs57674130(-;-)
Alt	Rs57674130(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC) rs57674130(-;-)
Reference	Rs57674130(CGCCTGGCCTCCTAC;CGCCTGGCCTCCTAC)
Significance	Pathogenic
Disease	Pachyonychia congenita type 2 not provided
Variation	info
Gene	KRT17
CLNDBN	Pachyonychia congenita type 2 not provided
Reversed	1
HGVS	NC_000017.10:g.39780467_39780481delGGTAGGAGGCCAGGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015697.27, RCV000056514.1,