rs137852809

Orientation

minus

Stabilized

minus

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

Make rs137852809(G;T)

Make rs137852809(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174753595

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852809
dbSNP (classic)	rs137852809
ClinGen	rs137852809
ebi	rs137852809
HLI	rs137852809
Exac	rs137852809
Gnomad	rs137852809
Varsome	rs137852809
LitVar	rs137852809
Map	rs137852809
PheGenI	rs137852809
Biobank	rs137852809
1000 genomes	rs137852809
hgdp	rs137852809
ensembl	rs137852809
geneview	rs137852809
scholar	rs137852809
google	rs137852809
pharmgkb	rs137852809
gwascentral	rs137852809
openSNP	rs137852809
23andMe	rs137852809
SNPshot	rs137852809
SNPdbe	rs137852809
MSV3d	rs137852809
GWAS Ctlg	rs137852809

Max Magnitude

0

OMIM	100690
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137852809(A;A) rs137852809(T;T)
Alt	rs137852809(A;A) rs137852809(T;T)
Reference	Rs137852809(G;G)
Significance	Pathogenic
Disease	Lethal multiple pterygium syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Lethal multiple pterygium syndrome
Reversed	1
HGVS	NC_000002.11:g.175618323C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020056.28,