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

rs10896380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs10896380(A;G)
Make rs10896380(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68914934
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs10896380
ebirs10896380
HLIrs10896380
Exacrs10896380
Varsomers10896380
Maprs10896380
PheGenIrs10896380
hapmaprs10896380
1000 genomesrs10896380
hgdprs10896380
ensemblrs10896380
gopubmedrs10896380
geneviewrs10896380
scholarrs10896380
googlers10896380
pharmgkbrs10896380
gwascentralrs10896380
openSNPrs10896380
23andMers10896380
23andMe allrs10896380
SNP Nexus

SNPshotrs10896380
SNPdbers10896380
MSV3drs10896380
GWAS Ctlgrs10896380
GMAF0.157
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene IGHMBP2
allele G
frequency 0.237
sift TOLERATED
HuRef 1103649714958
Disease Association Defects in IGHMBP2 are the cause of spinal muscle atrophy with respiratory distress type 1 (SMARD1) (MIM:604320). Intrauterine growth retardation, weak cry, and foot deformities are the earliest symptoms of SMARD1. Most patients manifest characteristic clinical features that include early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness.



GET Evidence
IGHMBP2-I275V
aa_change Ile275Val
aa_change_short I275V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.204871
summary