rs104894215

Orientation

minus

Stabilized

minus

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

Make rs104894215(C;C)

Make rs104894215(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

88294111

Gene

CTSC

is a	snp
is	mentioned by
dbSNP	rs104894215
dbSNP (classic)	rs104894215
ClinGen	rs104894215
ebi	rs104894215
HLI	rs104894215
Exac	rs104894215
Gnomad	rs104894215
Varsome	rs104894215
LitVar	rs104894215
Map	rs104894215
PheGenI	rs104894215
Biobank	rs104894215
1000 genomes	rs104894215
hgdp	rs104894215
ensembl	rs104894215
geneview	rs104894215
scholar	rs104894215
google	rs104894215
pharmgkb	rs104894215
gwascentral	rs104894215
openSNP	rs104894215
23andMe	rs104894215
SNPshot	rs104894215
SNPdbe	rs104894215
MSV3d	rs104894215
GWAS Ctlg	rs104894215

Max Magnitude

0

OMIM	602365
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894215(C;C)
Alt	rs104894215(C;C)
Reference	Rs104894215(G;G)
Significance	Pathogenic
Disease	Papillon-Lefèvre syndrome
Variation	info
Gene	CTSC
CLNDBN	Papillon-Lefèvre syndrome
Reversed	1
HGVS	NC_000011.9:g.88027279C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007721.5,