rs60944949

Orientation

minus

Stabilized

minus

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

Make rs60944949(C;C)

Make rs60944949(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41612294

Gene

KRT16

is a	snp
is	mentioned by
dbSNP	rs60944949
dbSNP (classic)	rs60944949
ClinGen	rs60944949
ebi	rs60944949
HLI	rs60944949
Exac	rs60944949
Gnomad	rs60944949
Varsome	rs60944949
LitVar	rs60944949
Map	rs60944949
PheGenI	rs60944949
Biobank	rs60944949
1000 genomes	rs60944949
hgdp	rs60944949
ensembl	rs60944949
geneview	rs60944949
scholar	rs60944949
google	rs60944949
pharmgkb	rs60944949
gwascentral	rs60944949
openSNP	rs60944949
23andMe	rs60944949
SNPshot	rs60944949
SNPdbe	rs60944949
MSV3d	rs60944949
GWAS Ctlg	rs60944949

Max Magnitude

0

OMIM	148067
Desc
Variant	0001
Related	also

ClinVar
Risk	rs60944949(C;C)
Alt	rs60944949(C;C)
Reference	Rs60944949(T;T)
Significance	Pathogenic
Disease	Pachyonychia congenita not provided
Variation	info
Gene	KRT16
CLNDBN	Pachyonychia congenita, type 1 not provided
Reversed	1
HGVS	NC_000017.10:g.39768546A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015704.23, RCV000057042.2,