rs1061305

Orientation

minus

Stabilized

minus

Make rs1061305(A;A)

Make rs1061305(A;G)

Make rs1061305(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

151490465

Gene

NEB, RIF1

is a	snp
is	mentioned by
dbSNP	rs1061305
dbSNP (classic)	rs1061305
ClinGen	rs1061305
ebi	rs1061305
HLI	rs1061305
Exac	rs1061305
Gnomad	rs1061305
Varsome	rs1061305
LitVar	rs1061305
Map	rs1061305
PheGenI	rs1061305
Biobank	rs1061305
1000 genomes	rs1061305
hgdp	rs1061305
ensembl	rs1061305
geneview	rs1061305
scholar	rs1061305
google	rs1061305
pharmgkb	rs1061305
gwascentral	rs1061305
openSNP	rs1061305
23andMe	rs1061305
SNPshot	rs1061305
SNPdbe	rs1061305
MSV3d	rs1061305
GWAS Ctlg	rs1061305

GMAF

0.3719

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs1061305(G;G)
Alt	rs1061305(G;G)
Reference	rs1061305(A;A)
Significance	Other
Disease	not specified Nemaline Myopathy
Variation	info
Gene	LOC101929336 NEB
CLNDBN	not specified Nemaline Myopathy, Recessive
Reversed	1
HGVS	NC_000002.11:g.152346979T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000081132.10, RCV000398581.1,