rs140430952

Orientation

plus

Stabilized

plus

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

Make rs140430952(A;A)

Make rs140430952(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

94590868

Gene

TGDS

is a	snp
is	mentioned by
dbSNP	rs140430952
dbSNP (classic)	rs140430952
ClinGen	rs140430952
ebi	rs140430952
HLI	rs140430952
Exac	rs140430952
Gnomad	rs140430952
Varsome	rs140430952
LitVar	rs140430952
Map	rs140430952
PheGenI	rs140430952
Biobank	rs140430952
1000 genomes	rs140430952
hgdp	rs140430952
ensembl	rs140430952
geneview	rs140430952
scholar	rs140430952
google	rs140430952
pharmgkb	rs140430952
gwascentral	rs140430952
openSNP	rs140430952
23andMe	rs140430952
SNPshot	rs140430952
SNPdbe	rs140430952
MSV3d	rs140430952
GWAS Ctlg	rs140430952

Max Magnitude

0

ClinVar
Risk	rs140430952(A;A) rs140430952(T;T)
Alt	rs140430952(A;A) rs140430952(T;T)
Reference	Rs140430952(C;C)
Significance	Pathogenic
Disease	Catel Manzke syndrome
Variation	info
Gene	TGDS
CLNDBN	Catel Manzke syndrome
Reversed	0
HGVS	NC_000013.10:g.95243122C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000149817.4,