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rs145734640

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145734640(A;A)
Make rs145734640(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23415096
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs145734640
dbSNP (old)rs145734640
ClinGenrs145734640
ebirs145734640
HLIrs145734640
Exacrs145734640
Gnomadrs145734640
Varsomers145734640
Maprs145734640
PheGenIrs145734640
Biobankrs145734640
1000 genomesrs145734640
hgdprs145734640
ensemblrs145734640
gopubmedrs145734640
geneviewrs145734640
scholarrs145734640
googlers145734640
pharmgkbrs145734640
gwascentralrs145734640
openSNPrs145734640
23andMers145734640
23andMe allrs145734640
SNP Nexus

SNPshotrs145734640
SNPdbers145734640
MSV3drs145734640
GWAS Ctlgrs145734640
Max Magnitude0
ClinVar
Risk rs145734640(A;A) rs145734640(C;C)
Alt rs145734640(A;A) rs145734640(C;C)
Reference Rs145734640(G;G)
Significance Pathogenic
Disease not provided Myopathy not specified
Variation info
Gene MYH7 MHRT
CLNDBN not provided Myopathy, myosin storage, autosomal recessive not specified
Reversed 0
HGVS NC_000014.8:g.23884305G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000158703.1, RCV000172878.3, RCV000314575.1,