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rs2269529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2269529(C;C)
Make rs2269529(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36288308
GeneMIR6819, MYH9
is asnp
is mentioned by
dbSNPrs2269529
ebirs2269529
HLIrs2269529
Exacrs2269529
Varsomers2269529
Maprs2269529
PheGenIrs2269529
hapmaprs2269529
1000 genomesrs2269529
hgdprs2269529
ensemblrs2269529
gopubmedrs2269529
geneviewrs2269529
scholarrs2269529
googlers2269529
pharmgkbrs2269529
gwascentralrs2269529
openSNPrs2269529
23andMers2269529
23andMe allrs2269529
SNP Nexus

SNPshotrs2269529
SNPdbers2269529
MSV3drs2269529
GWAS Ctlgrs2269529
GMAF0.2847
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene MYH9
allele C
frequency 0
sift TOLERATED
HuRef 1103691039325
Disease Association Defects in MYH9 are the cause of autosomal dominant nonsyndromic sensorineural deafness 17 (DFNA17) (MIM:603622). DFNA17 is characterized by progressive hearing impairment and cochleosaccular degeneration.



[PMID 19891592] Association Among Polymorphisms at MYH9, Environmental Factors, and Nonsyndromic Orofacial Clefts in Western China


ClinVar
Risk rs2269529(C;C)
Alt rs2269529(C;C)
Reference rs2269529(T;T)
Significance Non-pathogenic
Disease MYH9 related disorders not specified
Variation info
Gene MIR6819 MYH9
CLNDBN MYH9 related disorders not specified
Reversed 0
HGVS NC_000022.10:g.36684354T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032225.1, RCV000037563.3,



[PMID 18716610OA-icon.png] Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.


[PMID 20124285OA-icon.png] Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.


GET Evidence
MYH9-I1626V
aa_change Ile1626Val
aa_change_short I1626V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.153095
summary