rs1057519423

Orientation

plus

Stabilized

plus

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

Make rs1057519423(C;T)

Make rs1057519423(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

60742984

Gene

CHD7

is a	snp
is	mentioned by
dbSNP	rs1057519423
dbSNP (classic)	rs1057519423
ClinGen	rs1057519423
ebi	rs1057519423
HLI	rs1057519423
Exac	rs1057519423
Gnomad	rs1057519423
Varsome	rs1057519423
LitVar	rs1057519423
Map	rs1057519423
PheGenI	rs1057519423
Biobank	rs1057519423
1000 genomes	rs1057519423
hgdp	rs1057519423
ensembl	rs1057519423
geneview	rs1057519423
scholar	rs1057519423
google	rs1057519423
pharmgkb	rs1057519423
gwascentral	rs1057519423
openSNP	rs1057519423
23andMe	rs1057519423
SNPshot	rs1057519423
SNPdbe	rs1057519423
MSV3d	rs1057519423
GWAS Ctlg	rs1057519423

Max Magnitude

0

ClinVar
Risk	rs1057519423(T;T)
Alt	rs1057519423(T;T)
Reference	Rs1057519423(C;C)
Significance	Pathogenic
Disease	CHARGE association
Variation	info
Gene	CHD7
CLNDBN	CHARGE association
Reversed	0
HGVS	NC_000008.10:g.61655543C>T
CLNSRC
CLNACC	RCV000417049.1,