rs782397980

Orientation

plus

Stabilized

plus

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

Make rs782397980(C;T)

Make rs782397980(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

114325331

Gene

CHAMP1

is a	snp
is	mentioned by
dbSNP	rs782397980
dbSNP (classic)	rs782397980
ClinGen	rs782397980
ebi	rs782397980
HLI	rs782397980
Exac	rs782397980
Gnomad	rs782397980
Varsome	rs782397980
LitVar	rs782397980
Map	rs782397980
PheGenI	rs782397980
Biobank	rs782397980
1000 genomes	rs782397980
hgdp	rs782397980
ensembl	rs782397980
geneview	rs782397980
scholar	rs782397980
google	rs782397980
pharmgkb	rs782397980
gwascentral	rs782397980
openSNP	rs782397980
23andMe	rs782397980
SNPshot	rs782397980
SNPdbe	rs782397980
MSV3d	rs782397980
GWAS Ctlg	rs782397980

Max Magnitude

0

Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.

ClinVar
Risk	rs782397980(G;G) rs782397980(T;T)
Alt	rs782397980(G;G) rs782397980(T;T)
Reference	Rs782397980(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	CHAMP1
CLNDBN	Mental retardation, autosomal dominant 40
Reversed	0
HGVS	NC_000013.10:g.115090806C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000191999.2,