rs121912798

Orientation

minus

Stabilized

minus

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

Make rs121912798(A;A)

Make rs121912798(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174811538

Gene

CHN1

is a	snp
is	mentioned by
dbSNP	rs121912798
dbSNP (classic)	rs121912798
ClinGen	rs121912798
ebi	rs121912798
HLI	rs121912798
Exac	rs121912798
Gnomad	rs121912798
Varsome	rs121912798
LitVar	rs121912798
Map	rs121912798
PheGenI	rs121912798
Biobank	rs121912798
1000 genomes	rs121912798
hgdp	rs121912798
ensembl	rs121912798
geneview	rs121912798
scholar	rs121912798
google	rs121912798
pharmgkb	rs121912798
gwascentral	rs121912798
openSNP	rs121912798
23andMe	rs121912798
SNPshot	rs121912798
SNPdbe	rs121912798
MSV3d	rs121912798
GWAS Ctlg	rs121912798

Max Magnitude

0

OMIM	118423
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912798(A;A)
Alt	rs121912798(A;A)
Reference	Rs121912798(G;G)
Significance	Pathogenic
Disease	Duane syndrome type 2
Variation	info
Gene	CHN1
CLNDBN	Duane syndrome type 2
Reversed	1
HGVS	NC_000002.11:g.175676266C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019111.23,