rs121912792

Orientation

minus

Stabilized

minus

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

Make rs121912792(A;T)

Make rs121912792(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174944942

Gene

CHN1

is a	snp
is	mentioned by
dbSNP	rs121912792
dbSNP (classic)	rs121912792
ClinGen	rs121912792
ebi	rs121912792
HLI	rs121912792
Exac	rs121912792
Gnomad	rs121912792
Varsome	rs121912792
LitVar	rs121912792
Map	rs121912792
PheGenI	rs121912792
Biobank	rs121912792
1000 genomes	rs121912792
hgdp	rs121912792
ensembl	rs121912792
geneview	rs121912792
scholar	rs121912792
google	rs121912792
pharmgkb	rs121912792
gwascentral	rs121912792
openSNP	rs121912792
23andMe	rs121912792
SNPshot	rs121912792
SNPdbe	rs121912792
MSV3d	rs121912792
GWAS Ctlg	rs121912792

Max Magnitude

0

OMIM	118423
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912792(G;G) rs121912792(T;T)
Alt	rs121912792(G;G) rs121912792(T;T)
Reference	Rs121912792(A;A)
Significance	Pathogenic
Disease	Duane syndrome type 2
Variation	info
Gene	CHN1
CLNDBN	Duane syndrome type 2
Reversed	1
HGVS	NC_000002.11:g.175809670T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019105.23,