rs121912793

Orientation

minus

Stabilized

minus

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

Make rs121912793(G;G)

Make rs121912793(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174878011

Gene

CHN1

is a	snp
is	mentioned by
dbSNP	rs121912793
dbSNP (classic)	rs121912793
ClinGen	rs121912793
ebi	rs121912793
HLI	rs121912793
Exac	rs121912793
Gnomad	rs121912793
Varsome	rs121912793
LitVar	rs121912793
Map	rs121912793
PheGenI	rs121912793
Biobank	rs121912793
1000 genomes	rs121912793
hgdp	rs121912793
ensembl	rs121912793
geneview	rs121912793
scholar	rs121912793
google	rs121912793
pharmgkb	rs121912793
gwascentral	rs121912793
openSNP	rs121912793
23andMe	rs121912793
SNPshot	rs121912793
SNPdbe	rs121912793
MSV3d	rs121912793
GWAS Ctlg	rs121912793

Max Magnitude

0

OMIM	118423
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912793(G;G)
Alt	rs121912793(G;G)
Reference	Rs121912793(T;T)
Significance	Pathogenic
Disease	Duane syndrome type 2
Variation	info
Gene	CHN1
CLNDBN	Duane syndrome type 2
Reversed	1
HGVS	NC_000002.11:g.175742739A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019106.27,