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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
dbSNP (old)rs2269529
ClinGenrs2269529
ebirs2269529
HLIrs2269529
Exacrs2269529
Gnomadrs2269529
Varsomers2269529
Maprs2269529
PheGenIrs2269529
Biobankrs2269529
1000 genomesrs2269529
hgdprs2269529
ensemblrs2269529
gopubmedrs2269529
geneviewrs2269529
scholarrs2269529
googlers2269529
pharmgkbrs2269529
gwascentralrs2269529
openSNPrs2269529
23andMers2269529
23andMe allrs2269529
SNPshotrs2269529
SNPdbers2269529
MSV3drs2269529
GWAS Ctlgrs2269529
GMAF0.2847
Max Magnitude0
? (C;C) (C;T) (T;T) 28



[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 MYH9-related disorder Nonsyndromic Hearing Loss
Variation info
Gene MIR6819 MYH9
CLNDBN MYH9 related disorders not specified MYH9-related disorder Nonsyndromic Hearing Loss, Dominant
Reversed 0
HGVS NC_000022.10:g.36684354T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000032225.1, RCV000037563.4, RCV000368736.1, RCV000402895.1,



[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.



[PMID 29207917] Functional Effects of SNPs in MYH9 and Risks of Nonsyndromic Orofacial Clefts.