rs387906271

Orientation

plus

Stabilized

plus

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

Make rs387906271(C;C)

Make rs387906271(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

60801598

Gene

CHD7

is a	snp
is	mentioned by
dbSNP	rs387906271
dbSNP (classic)	rs387906271
ClinGen	rs387906271
ebi	rs387906271
HLI	rs387906271
Exac	rs387906271
Gnomad	rs387906271
Varsome	rs387906271
LitVar	rs387906271
Map	rs387906271
PheGenI	rs387906271
Biobank	rs387906271
1000 genomes	rs387906271
hgdp	rs387906271
ensembl	rs387906271
geneview	rs387906271
scholar	rs387906271
google	rs387906271
pharmgkb	rs387906271
gwascentral	rs387906271
openSNP	rs387906271
23andMe	rs387906271
SNPshot	rs387906271
SNPdbe	rs387906271
MSV3d	rs387906271
GWAS Ctlg	rs387906271

Max Magnitude

0

ClinVar
Risk	rs387906271(C;C)
Alt	rs387906271(C;C)
Reference	Rs387906271(G;G)
Significance	Pathogenic
Disease	CHARGE association Kallmann syndrome 5
Variation	info
Gene	CHD7
CLNDBN	CHARGE association Kallmann syndrome 5
Reversed	0
HGVS	NC_000008.10:g.61714157G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002113.2, RCV000002114.3,