rs104894214

Orientation

minus

Stabilized

minus

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

Make rs104894214(A;A)

Make rs104894214(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

88294497

Gene

CTSC

is a	snp
is	mentioned by
dbSNP	rs104894214
dbSNP (classic)	rs104894214
ClinGen	rs104894214
ebi	rs104894214
HLI	rs104894214
Exac	rs104894214
Gnomad	rs104894214
Varsome	rs104894214
LitVar	rs104894214
Map	rs104894214
PheGenI	rs104894214
Biobank	rs104894214
1000 genomes	rs104894214
hgdp	rs104894214
ensembl	rs104894214
geneview	rs104894214
scholar	rs104894214
google	rs104894214
pharmgkb	rs104894214
gwascentral	rs104894214
openSNP	rs104894214
23andMe	rs104894214
SNPshot	rs104894214
SNPdbe	rs104894214
MSV3d	rs104894214
GWAS Ctlg	rs104894214

Max Magnitude

0

OMIM	602365
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894214(A;A)
Alt	rs104894214(A;A)
Reference	Rs104894214(G;G)
Significance	Pathogenic
Disease	Papillon-Lefèvre syndrome
Variation	info
Gene	CTSC
CLNDBN	Papillon-Lefèvre syndrome
Reversed	1
HGVS	NC_000011.9:g.88027665C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007720.4,