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rs2296949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0
Make rs2296949(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131510049
GenePOMT1
is asnp
is mentioned by
dbSNPrs2296949
ebirs2296949
HLIrs2296949
Exacrs2296949
Varsomers2296949
Maprs2296949
PheGenIrs2296949
hapmaprs2296949
1000 genomesrs2296949
hgdprs2296949
ensemblrs2296949
gopubmedrs2296949
geneviewrs2296949
scholarrs2296949
googlers2296949
pharmgkbrs2296949
gwascentralrs2296949
openSNPrs2296949
23andMers2296949
23andMe allrs2296949
SNP Nexus

SNPshotrs2296949
SNPdbers2296949
MSV3drs2296949
GWAS Ctlgrs2296949
GMAF0.1341
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene POMT1
allele G
frequency 0.925
sift TOLERATED
HuRef 1103652195264
Disease Association Defects in POMT1 are the cause of limb-girdle muscular dystrophy type 2K (LGMD2K) (MIM:609308); also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. LGMD2K is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. LGMD2K is a significantly milder allelic form of WWS.



GET Evidence
POMT1-Q251R
aa_change Gln251Arg
aa_change_short Q251R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs2296949(G;G)
Alt rs2296949(G;G)
Reference rs2296949(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene POMT1
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.134385436A\x3d; NC_000009.11:g.134385436A>G
CLNSRC ClinVar Emory University
CLNACC RCV000081493.4, RCV000216907.1,