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rs622082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs622082(A;G)
Make rs622082(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68936491
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs622082
ebirs622082
HLIrs622082
Exacrs622082
Varsomers622082
Maprs622082
PheGenIrs622082
hapmaprs622082
1000 genomesrs622082
hgdprs622082
ensemblrs622082
gopubmedrs622082
geneviewrs622082
scholarrs622082
googlers622082
pharmgkbrs622082
gwascentralrs622082
openSNPrs622082
23andMers622082
23andMe allrs622082
SNP Nexus

SNPshotrs622082
SNPdbers622082
MSV3drs622082
GWAS Ctlgrs622082
GMAF0.2222
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene IGHMBP2
allele G
frequency 0.283
sift TOLERATED
HuRef 1103649715008
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.



[PMID 16111488OA-icon.png] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.


GET Evidence
IGHMBP2-T671A
aa_change Thr671Ala
aa_change_short T671A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.246141
summary