rs2269529

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs2269529(C;C)

Make rs2269529(C;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

36288308

Gene	MIR6819, MYH9

is a	snp
is	mentioned by
dbSNP	rs2269529
dbSNP (classic)	rs2269529
ClinGen	rs2269529
ebi	rs2269529
HLI	rs2269529
Exac	rs2269529
Gnomad	rs2269529
Varsome	rs2269529
LitVar	rs2269529
Map	rs2269529
PheGenI	rs2269529
Biobank	rs2269529
1000 genomes	rs2269529
hgdp	rs2269529
ensembl	rs2269529
geneview	rs2269529
scholar	rs2269529
google	rs2269529
pharmgkb	rs2269529
gwascentral	rs2269529
openSNP	rs2269529
23andMe	rs2269529
SNPshot	rs2269529
SNPdbe	rs2269529
MSV3d	rs2269529
GWAS Ctlg	rs2269529

GMAF

0.2847

Max Magnitude

0

?	(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 18716610] Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

[PMID 20124285] 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.