rs1052030

plus

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

Make rs1052030(C;C)

Make rs1052030(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

77142737

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs1052030
dbSNP (classic)	rs1052030
ClinGen	rs1052030
ebi	rs1052030
HLI	rs1052030
Exac	rs1052030
Gnomad	rs1052030
Varsome	rs1052030
LitVar	rs1052030
Map	rs1052030
PheGenI	rs1052030
Biobank	rs1052030
1000 genomes	rs1052030
hgdp	rs1052030
ensembl	rs1052030
geneview	rs1052030
scholar	rs1052030
google	rs1052030
pharmgkb	rs1052030
gwascentral	rs1052030
openSNP	rs1052030
23andMe	rs1052030
SNPshot	rs1052030
SNPdbe	rs1052030
MSV3d	rs1052030
GWAS Ctlg	rs1052030

GMAF

0.4853

Max Magnitude

0

aka c.47T>C (p.Leu16Ser) and also c.47T>A (p.Leu16Ter); the former is benign, while the latter is pathogenic for a recessive form of deafness (type 2, Usher syndrome)

?

(C;C) (C;T) (T;T)

28

ClinVar
Risk	rs1052030(A;A) rs1052030(C;C)
Alt	rs1052030(A;A) rs1052030(C;C)
Reference	Rs1052030(T;T)
Significance	Probable-non-pathogenic
Disease	not specified not provided Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss
Variation	info
Gene	MYO7A
CLNDBN	not specified not provided Nonsyndromic Hearing Loss, Dominant Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss, Recessive
Reversed	0
HGVS	NC_000011.9:g.76853783T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036163.4, RCV000132571.1, RCV000261128.1, RCV000318604.1, RCV000353260.1,

[PMID 18776599 ] Susceptibility genes for gentamicin-induced vestibular dysfunction.