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rs560096

From SNPedia

Orientationplus
Stabilizedplus
Make rs560096(C;C)
Make rs560096(C;T)
Make rs560096(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68911494
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs560096
ebirs560096
HLIrs560096
Exacrs560096
Varsomers560096
Maprs560096
PheGenIrs560096
hapmaprs560096
1000 genomesrs560096
hgdprs560096
ensemblrs560096
gopubmedrs560096
geneviewrs560096
scholarrs560096
googlers560096
pharmgkbrs560096
gwascentralrs560096
openSNPrs560096
23andMers560096
23andMe allrs560096
SNP Nexus

SNPshotrs560096
SNPdbers560096
MSV3drs560096
GWAS Ctlgrs560096
GMAF0.2975
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene IGHMBP2
allele C
frequency 0.883
sift TOLERATED
HuRef 1103649714946
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-L201S
aa_change Leu201Ser
aa_change_short L201S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.776631
summary