rs121909274

Orientation

minus

Stabilized

minus

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

Make rs121909274(A;A)

Make rs121909274(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

127068992

Gene

BIN1

is a	snp
is	mentioned by
dbSNP	rs121909274
dbSNP (classic)	rs121909274
ClinGen	rs121909274
ebi	rs121909274
HLI	rs121909274
Exac	rs121909274
Gnomad	rs121909274
Varsome	rs121909274
LitVar	rs121909274
Map	rs121909274
PheGenI	rs121909274
Biobank	rs121909274
1000 genomes	rs121909274
hgdp	rs121909274
ensembl	rs121909274
geneview	rs121909274
scholar	rs121909274
google	rs121909274
pharmgkb	rs121909274
gwascentral	rs121909274
openSNP	rs121909274
23andMe	rs121909274
SNPshot	rs121909274
SNPdbe	rs121909274
MSV3d	rs121909274
GWAS Ctlg	rs121909274

Max Magnitude

0

OMIM	601248
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909274(A;A)
Alt	rs121909274(A;A)
Reference	Rs121909274(G;G)
Significance	Pathogenic
Disease	Autosomal recessive centronuclear myopathy
Variation	info
Gene	BIN1
CLNDBN	Autosomal recessive centronuclear myopathy
Reversed	1
HGVS	NC_000002.11:g.127826568C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008796.2,