rs121434341

Orientation

plus

Stabilized

plus

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

Make rs121434341(A;A)

Make rs121434341(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

60855993

Gene

CHD7

is a	snp
is	mentioned by
dbSNP	rs121434341
dbSNP (classic)	rs121434341
ClinGen	rs121434341
ebi	rs121434341
HLI	rs121434341
Exac	rs121434341
Gnomad	rs121434341
Varsome	rs121434341
LitVar	rs121434341
Map	rs121434341
PheGenI	rs121434341
Biobank	rs121434341
1000 genomes	rs121434341
hgdp	rs121434341
ensembl	rs121434341
geneview	rs121434341
scholar	rs121434341
google	rs121434341
pharmgkb	rs121434341
gwascentral	rs121434341
openSNP	rs121434341
23andMe	rs121434341
SNPshot	rs121434341
SNPdbe	rs121434341
MSV3d	rs121434341
GWAS Ctlg	rs121434341

Max Magnitude

0

OMIM	608892
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121434341(A;A) rs121434341(T;T)
Alt	rs121434341(A;A) rs121434341(T;T)
Reference	Rs121434341(C;C)
Significance	Pathogenic
Disease	CHARGE association
Variation	info
Gene	CHD7
CLNDBN	CHARGE association
Reversed	0
HGVS	NC_000008.10:g.61768552C>A; NC_000008.10:g.61768552C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002105.2, RCV000224986.1,