rs104894207

Orientation

minus

Stabilized

minus

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

Make rs104894207(A;T)

Make rs104894207(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

88300532

Gene

CTSC

is a	snp
is	mentioned by
dbSNP	rs104894207
dbSNP (classic)	rs104894207
ClinGen	rs104894207
ebi	rs104894207
HLI	rs104894207
Exac	rs104894207
Gnomad	rs104894207
Varsome	rs104894207
LitVar	rs104894207
Map	rs104894207
PheGenI	rs104894207
Biobank	rs104894207
1000 genomes	rs104894207
hgdp	rs104894207
ensembl	rs104894207
geneview	rs104894207
scholar	rs104894207
google	rs104894207
pharmgkb	rs104894207
gwascentral	rs104894207
openSNP	rs104894207
23andMe	rs104894207
SNPshot	rs104894207
SNPdbe	rs104894207
MSV3d	rs104894207
GWAS Ctlg	rs104894207

Max Magnitude

0

OMIM	602365
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894207(T;T)
Alt	rs104894207(T;T)
Reference	Rs104894207(A;A)
Significance	Pathogenic
Disease	Papillon-Lefèvre syndrome not provided
Variation	info
Gene	CTSC
CLNDBN	Papillon-Lefèvre syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.88033700T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007714.5, RCV000489891.1,