rs183258549

Orientation

minus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common genotype
(A;G)	3	Carrier for a recessive mutation for deafness

Make rs183258549(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

80460829

Gene

PTPRQ

is a	snp
is	mentioned by
dbSNP	rs183258549
dbSNP (classic)	rs183258549
ClinGen	rs183258549
ebi	rs183258549
HLI	rs183258549
Exac	rs183258549
Gnomad	rs183258549
Varsome	rs183258549
LitVar	rs183258549
Map	rs183258549
PheGenI	rs183258549
Biobank	rs183258549
1000 genomes	rs183258549
hgdp	rs183258549
ensembl	rs183258549
geneview	rs183258549
scholar	rs183258549
google	rs183258549
pharmgkb	rs183258549
gwascentral	rs183258549
openSNP	rs183258549
23andMe	rs183258549
SNPshot	rs183258549
SNPdbe	rs183258549
MSV3d	rs183258549
GWAS Ctlg	rs183258549

GMAF

0.0009183

Max Magnitude

3

ClinVar
Risk	rs183258549(G;G) rs183258549(T;T)
Alt	rs183258549(G;G) rs183258549(T;T)
Reference	Rs183258549(A;A)
Significance	Untested
Disease	Deafness
Variation	info
Gene	PTPRQ
CLNDBN	Deafness, autosomal recessive 84
Reversed	1
HGVS	NC_000012.12:g.80460829T>A
CLNSRC	ClinVar
CLNACC	RCV000144417.1,