rs121913662

Orientation

minus

Stabilized

minus

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

Make rs121913662(G;T)

Make rs121913662(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

151490495

Gene

NEB, RIF1

is a	snp
is	mentioned by
dbSNP	rs121913662
dbSNP (classic)	rs121913662
ClinGen	rs121913662
ebi	rs121913662
HLI	rs121913662
Exac	rs121913662
Gnomad	rs121913662
Varsome	rs121913662
LitVar	rs121913662
Map	rs121913662
PheGenI	rs121913662
Biobank	rs121913662
1000 genomes	rs121913662
hgdp	rs121913662
ensembl	rs121913662
geneview	rs121913662
scholar	rs121913662
google	rs121913662
pharmgkb	rs121913662
gwascentral	rs121913662
openSNP	rs121913662
23andMe	rs121913662
SNPshot	rs121913662
SNPdbe	rs121913662
MSV3d	rs121913662
GWAS Ctlg	rs121913662

Max Magnitude

0

OMIM	161650
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913662(A;A) rs121913662(T;T)
Alt	rs121913662(A;A) rs121913662(T;T)
Reference	Rs121913662(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	LOC101929336 NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152347009C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015094.26,