rs121434339

Orientation

plus

Stabilized

plus

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

Make rs121434339(G;G)

Make rs121434339(G;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

60830569

Gene

CHD7

is a	snp
is	mentioned by
dbSNP	rs121434339
dbSNP (classic)	rs121434339
ClinGen	rs121434339
ebi	rs121434339
HLI	rs121434339
Exac	rs121434339
Gnomad	rs121434339
Varsome	rs121434339
LitVar	rs121434339
Map	rs121434339
PheGenI	rs121434339
Biobank	rs121434339
1000 genomes	rs121434339
hgdp	rs121434339
ensembl	rs121434339
geneview	rs121434339
scholar	rs121434339
google	rs121434339
pharmgkb	rs121434339
gwascentral	rs121434339
openSNP	rs121434339
23andMe	rs121434339
SNPshot	rs121434339
SNPdbe	rs121434339
MSV3d	rs121434339
GWAS Ctlg	rs121434339

Max Magnitude

0

OMIM	608892
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434339(G;G)
Alt	rs121434339(G;G)
Reference	Rs121434339(T;T)
Significance	Pathogenic
Disease	CHARGE association
Variation	info
Gene	CHD7
CLNDBN	CHARGE association
Reversed	0
HGVS	NC_000008.10:g.61743128T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002101.3,