rs121912796

Orientation

minus

Stabilized

minus

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

Make rs121912796(A;A)

Make rs121912796(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174824464

Gene

CHN1

is a	snp
is	mentioned by
dbSNP	rs121912796
dbSNP (classic)	rs121912796
ClinGen	rs121912796
ebi	rs121912796
HLI	rs121912796
Exac	rs121912796
Gnomad	rs121912796
Varsome	rs121912796
LitVar	rs121912796
Map	rs121912796
PheGenI	rs121912796
Biobank	rs121912796
1000 genomes	rs121912796
hgdp	rs121912796
ensembl	rs121912796
geneview	rs121912796
scholar	rs121912796
google	rs121912796
pharmgkb	rs121912796
gwascentral	rs121912796
openSNP	rs121912796
23andMe	rs121912796
SNPshot	rs121912796
SNPdbe	rs121912796
MSV3d	rs121912796
GWAS Ctlg	rs121912796

Max Magnitude

0

OMIM	118423
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912796(A;A)
Alt	rs121912796(A;A)
Reference	Rs121912796(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.175689192C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019109.27,