rs104894208

Orientation

minus

Stabilized

minus

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

Make rs104894208(A;G)

Make rs104894208(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

88296165

Gene

CTSC

is a	snp
is	mentioned by
dbSNP	rs104894208
dbSNP (classic)	rs104894208
ClinGen	rs104894208
ebi	rs104894208
HLI	rs104894208
Exac	rs104894208
Gnomad	rs104894208
Varsome	rs104894208
LitVar	rs104894208
Map	rs104894208
PheGenI	rs104894208
Biobank	rs104894208
1000 genomes	rs104894208
hgdp	rs104894208
ensembl	rs104894208
geneview	rs104894208
scholar	rs104894208
google	rs104894208
pharmgkb	rs104894208
gwascentral	rs104894208
openSNP	rs104894208
23andMe	rs104894208
SNPshot	rs104894208
SNPdbe	rs104894208
MSV3d	rs104894208
GWAS Ctlg	rs104894208

Max Magnitude

0

OMIM	602365
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894208(G;G)
Alt	rs104894208(G;G)
Reference	Rs104894208(A;A)
Significance	Pathogenic
Disease	Haim-Munk syndrome Papillon-Lefèvre syndrome
Variation	info
Gene	CTSC
CLNDBN	Haim-Munk syndrome Papillon-Lefèvre syndrome
Reversed	1
HGVS	NC_000011.9:g.88029333T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007717.5, RCV000179387.1,