rs387906600

Orientation

minus

Stabilized

minus

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

Make rs387906600(C;T)

Make rs387906600(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174812441

Gene

CHN1

is a	snp
is	mentioned by
dbSNP	rs387906600
dbSNP (classic)	rs387906600
ClinGen	rs387906600
ebi	rs387906600
HLI	rs387906600
Exac	rs387906600
Gnomad	rs387906600
Varsome	rs387906600
LitVar	rs387906600
Map	rs387906600
PheGenI	rs387906600
Biobank	rs387906600
1000 genomes	rs387906600
hgdp	rs387906600
ensembl	rs387906600
geneview	rs387906600
scholar	rs387906600
google	rs387906600
pharmgkb	rs387906600
gwascentral	rs387906600
openSNP	rs387906600
23andMe	rs387906600
SNPshot	rs387906600
SNPdbe	rs387906600
MSV3d	rs387906600
GWAS Ctlg	rs387906600

Max Magnitude

0

ClinVar
Risk	rs387906600(T;T)
Alt	rs387906600(T;T)
Reference	Rs387906600(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.175677169G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022464.23,