rs28928896

minus

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

Make rs28928896(A;C)

Make rs28928896(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624236

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs28928896
dbSNP (classic)	rs28928896
ClinGen	rs28928896
ebi	rs28928896
HLI	rs28928896
Exac	rs28928896
Gnomad	rs28928896
Varsome	rs28928896
LitVar	rs28928896
Map	rs28928896
PheGenI	rs28928896
Biobank	rs28928896
1000 genomes	rs28928896
hgdp	rs28928896
ensembl	rs28928896
geneview	rs28928896
scholar	rs28928896
google	rs28928896
pharmgkb	rs28928896
gwascentral	rs28928896
openSNP	rs28928896
23andMe	rs28928896
SNPshot	rs28928896
SNPdbe	rs28928896
MSV3d	rs28928896
GWAS Ctlg	rs28928896

Max Magnitude

0

OMIM	148069
Desc	STEATOCYSTOMA MULTIPLEX
Variant	0004
Related	also

During some blast and clustalw analysis of the watson genome, this snp is an outlier. It appears to occur in a fairly well conserved region, which appears slightly differently at several places in the genome.

OMIM	148069
Desc
Variant	0001
Related	also

ClinVar
Risk	rs28928896(C;C) rs28928896(G;G)
Alt	rs28928896(C;C) rs28928896(G;G)
Reference	Rs28928896(A;A)
Significance	Pathogenic
Disease	Pachyonychia congenita type 2 not provided Steatocystoma multiplex
Variation	info
Gene	KRT17
CLNDBN	Pachyonychia congenita type 2 not provided Steatocystoma multiplex
Reversed	1
HGVS	NC_000017.10:g.39780488T>C; NC_000017.10:g.39780488T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015688.27, RCV000056510.1, RCV000015691.26, RCV000056509.1,