rs121434539

Orientation

plus

Stabilized

plus

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

Make rs121434539(C;T)

Make rs121434539(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89179551

Gene

CDH15

is a	snp
is	mentioned by
dbSNP	rs121434539
dbSNP (classic)	rs121434539
ClinGen	rs121434539
ebi	rs121434539
HLI	rs121434539
Exac	rs121434539
Gnomad	rs121434539
Varsome	rs121434539
LitVar	rs121434539
Map	rs121434539
PheGenI	rs121434539
Biobank	rs121434539
1000 genomes	rs121434539
hgdp	rs121434539
ensembl	rs121434539
geneview	rs121434539
scholar	rs121434539
google	rs121434539
pharmgkb	rs121434539
gwascentral	rs121434539
openSNP	rs121434539
23andMe	rs121434539
SNPshot	rs121434539
SNPdbe	rs121434539
MSV3d	rs121434539
GWAS Ctlg	rs121434539

Max Magnitude

0

OMIM	114019
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434539(T;T)
Alt	rs121434539(T;T)
Reference	Rs121434539(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	CDH15
CLNDBN	Mental retardation, autosomal dominant 3
Reversed	0
HGVS	NC_000016.9:g.89245959C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019209.23,