rs121912797

Orientation

minus

Stabilized

minus

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

Make rs121912797(A;A)

Make rs121912797(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174812440

Gene

CHN1

is a	snp
is	mentioned by
dbSNP	rs121912797
dbSNP (classic)	rs121912797
ClinGen	rs121912797
ebi	rs121912797
HLI	rs121912797
Exac	rs121912797
Gnomad	rs121912797
Varsome	rs121912797
LitVar	rs121912797
Map	rs121912797
PheGenI	rs121912797
Biobank	rs121912797
1000 genomes	rs121912797
hgdp	rs121912797
ensembl	rs121912797
geneview	rs121912797
scholar	rs121912797
google	rs121912797
pharmgkb	rs121912797
gwascentral	rs121912797
openSNP	rs121912797
23andMe	rs121912797
SNPshot	rs121912797
SNPdbe	rs121912797
MSV3d	rs121912797
GWAS Ctlg	rs121912797

Max Magnitude

0

OMIM	118423
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912797(A;A)
Alt	rs121912797(A;A)
Reference	Rs121912797(C;C)
Significance	Pathogenic
Disease	Duane syndrome type 2
Variation	info
Gene	CHN1
CLNDBN	Duane syndrome type 2
Reversed	1
HGVS	NC_000002.11:g.175677168G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019110.27,