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rs1724577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1724577(G;T)
Make rs1724577(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position52397434
GeneMYO5A
is asnp
is mentioned by
dbSNPrs1724577
ebirs1724577
HLIrs1724577
Exacrs1724577
Varsomers1724577
Maprs1724577
PheGenIrs1724577
hapmaprs1724577
1000 genomesrs1724577
hgdprs1724577
ensemblrs1724577
gopubmedrs1724577
geneviewrs1724577
scholarrs1724577
googlers1724577
pharmgkbrs1724577
gwascentralrs1724577
openSNPrs1724577
23andMers1724577
23andMe allrs1724577
SNP Nexus

SNPshotrs1724577
SNPdbers1724577
MSV3drs1724577
GWAS Ctlgrs1724577
GMAF0.08448
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene MYO5A
allele G
frequency 1
sift
HuRef 1103645611696
Disease Association Defects in MYO5A are a cause of Elejalde syndrome (MIM:256710); also known as neuroectodermal melanolysosomal disease. Elejalde syndrome is an autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.



[PMID 18392143OA-icon.png] Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.


GET Evidence
MYO5A-E362D
aa_change Glu362Asp
aa_change_short E362D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.910611
summary