rs121434345

Orientation

plus

Stabilized

plus

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

Make rs121434345(A;G)

Make rs121434345(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

60741596

Gene

CHD7

is a	snp
is	mentioned by
dbSNP	rs121434345
dbSNP (classic)	rs121434345
ClinGen	rs121434345
ebi	rs121434345
HLI	rs121434345
Exac	rs121434345
Gnomad	rs121434345
Varsome	rs121434345
LitVar	rs121434345
Map	rs121434345
PheGenI	rs121434345
Biobank	rs121434345
1000 genomes	rs121434345
hgdp	rs121434345
ensembl	rs121434345
geneview	rs121434345
scholar	rs121434345
google	rs121434345
pharmgkb	rs121434345
gwascentral	rs121434345
openSNP	rs121434345
23andMe	rs121434345
SNPshot	rs121434345
SNPdbe	rs121434345
MSV3d	rs121434345
GWAS Ctlg	rs121434345

Max Magnitude

0

OMIM	608892
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121434345(G;G)
Alt	rs121434345(G;G)
Reference	Rs121434345(A;A)
Significance	Pathogenic
Disease	Kallmann syndrome 5
Variation	info
Gene	CHD7
CLNDBN	Kallmann syndrome 5
Reversed	0
HGVS	NC_000008.10:g.61654155A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002116.3,