Have questions? Visit https://www.reddit.com/r/SNPedia

rs1061305

From SNPedia

Orientationminus
Stabilizedminus
Make rs1061305(A;A)
Make rs1061305(A;G)
Make rs1061305(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position151490465
GeneLOC101929336, NEB
is asnp
is mentioned by
dbSNPrs1061305
ebirs1061305
HLIrs1061305
Exacrs1061305
Varsomers1061305
Maprs1061305
PheGenIrs1061305
hapmaprs1061305
1000 genomesrs1061305
hgdprs1061305
ensemblrs1061305
gopubmedrs1061305
geneviewrs1061305
scholarrs1061305
googlers1061305
pharmgkbrs1061305
gwascentralrs1061305
openSNPrs1061305
23andMers1061305
23andMe allrs1061305
SNP Nexus

SNPshotrs1061305
SNPdbers1061305
MSV3drs1061305
GWAS Ctlgrs1061305
GMAF0.3719
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene NEB
allele C
frequency 0.4
sift
HuRef 1103658254333
Disease Association Defects in NEB are the cause of nemaline myopathy type 2 (NEM2) (MIM:256030). Nemaline myopathy (MIM:161800) is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination. The clinical phenotype is highly variable, with differing age at onset and severity. NEM2 inheritance is autosomal recessive.



GET Evidence
NEB-I8402V
aa_change Ile8402Val
aa_change_short I8402V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs1061305(G;G)
Alt rs1061305(G;G)
Reference rs1061305(A;A)
Significance Other
Disease not specified
Variation info
Gene LOC101929336 NEB
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.152346979T>C
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081132.8,