rs104894216

Orientation

minus

Stabilized

minus

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

Make rs104894216(A;C)

Make rs104894216(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

88312493

Gene

CTSC

is a	snp
is	mentioned by
dbSNP	rs104894216
dbSNP (classic)	rs104894216
ClinGen	rs104894216
ebi	rs104894216
HLI	rs104894216
Exac	rs104894216
Gnomad	rs104894216
Varsome	rs104894216
LitVar	rs104894216
Map	rs104894216
PheGenI	rs104894216
Biobank	rs104894216
1000 genomes	rs104894216
hgdp	rs104894216
ensembl	rs104894216
geneview	rs104894216
scholar	rs104894216
google	rs104894216
pharmgkb	rs104894216
gwascentral	rs104894216
openSNP	rs104894216
23andMe	rs104894216
SNPshot	rs104894216
SNPdbe	rs104894216
MSV3d	rs104894216
GWAS Ctlg	rs104894216

Max Magnitude

0

OMIM	602365
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894216(C;C) rs104894216(G;G)
Alt	rs104894216(C;C) rs104894216(G;G)
Reference	Rs104894216(A;A)
Significance	Pathogenic
Disease	Papillon-Lefèvre syndrome
Variation	info
Gene	CTSC
CLNDBN	Papillon-Lefèvre syndrome
Reversed	1
HGVS	NC_000011.9:g.88045661T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007722.4,