rs1057518891

Orientation

plus

Stabilized

plus

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

Make rs1057518891(C;T)

Make rs1057518891(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

60854479

Gene

CHD7

is a	snp
is	mentioned by
dbSNP	rs1057518891
dbSNP (classic)	rs1057518891
ClinGen	rs1057518891
ebi	rs1057518891
HLI	rs1057518891
Exac	rs1057518891
Gnomad	rs1057518891
Varsome	rs1057518891
LitVar	rs1057518891
Map	rs1057518891
PheGenI	rs1057518891
Biobank	rs1057518891
1000 genomes	rs1057518891
hgdp	rs1057518891
ensembl	rs1057518891
geneview	rs1057518891
scholar	rs1057518891
google	rs1057518891
pharmgkb	rs1057518891
gwascentral	rs1057518891
openSNP	rs1057518891
23andMe	rs1057518891
SNPshot	rs1057518891
SNPdbe	rs1057518891
MSV3d	rs1057518891
GWAS Ctlg	rs1057518891

Max Magnitude

0

ClinVar
Risk	rs1057518891(T;T)
Alt	rs1057518891(T;T)
Reference	Rs1057518891(C;C)
Significance	Pathogenic
Disease	Dolichocephaly Hypothyroidism Myopia Poor coordination Progressive hearing impairment Scoliosis
Variation	info
Gene	CHD7
CLNDBN	Dolichocephaly Hypothyroidism Myopia Poor coordination Progressive hearing impairment Scoliosis
Reversed	0
HGVS	NC_000008.10:g.61767038C>T
CLNSRC
CLNACC	RCV000415206.1,