rs58608173

Orientation

minus

Stabilized

minus

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

Make rs58608173(A;G)

Make rs58608173(G;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

41612316

Gene

KRT16

is a	snp
is	mentioned by
dbSNP	rs58608173
dbSNP (classic)	rs58608173
ClinGen	rs58608173
ebi	rs58608173
HLI	rs58608173
Exac	rs58608173
Gnomad	rs58608173
Varsome	rs58608173
LitVar	rs58608173
Map	rs58608173
PheGenI	rs58608173
Biobank	rs58608173
1000 genomes	rs58608173
hgdp	rs58608173
ensembl	rs58608173
geneview	rs58608173
scholar	rs58608173
google	rs58608173
pharmgkb	rs58608173
gwascentral	rs58608173
openSNP	rs58608173
23andMe	rs58608173
SNPshot	rs58608173
SNPdbe	rs58608173
MSV3d	rs58608173
GWAS Ctlg	rs58608173

Max Magnitude

0

ClinVar
Risk	rs58608173(G;G)
Alt	rs58608173(G;G)
Reference	Rs58608173(A;A)
Significance	Pathogenic
Disease	not provided Pachyonychia congenita
Variation	info
Gene	KRT16
CLNDBN	not provided Pachyonychia congenita, type 1
Reversed	1
HGVS	NC_000017.10:g.39768568T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000057036.2, RCV000144081.2,