rs281865414

Orientation

plus

Stabilized

minus

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

Make rs281865414(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

80460707

Gene

PTPRQ

is a	snp
is	mentioned by
dbSNP	rs281865414
dbSNP (classic)	rs281865414
ClinGen	rs281865414
ebi	rs281865414
HLI	rs281865414
Exac	rs281865414
Gnomad	rs281865414
Varsome	rs281865414
LitVar	rs281865414
Map	rs281865414
PheGenI	rs281865414
Biobank	rs281865414
1000 genomes	rs281865414
hgdp	rs281865414
ensembl	rs281865414
geneview	rs281865414
scholar	rs281865414
google	rs281865414
pharmgkb	rs281865414
gwascentral	rs281865414
openSNP	rs281865414
23andMe	rs281865414
SNPshot	rs281865414
SNPdbe	rs281865414
MSV3d	rs281865414
GWAS Ctlg	rs281865414

Max Magnitude

3

ClinVar
Risk	rs281865414(G;G)
Alt	rs281865414(G;G)
Reference	Rs281865414(A;A)
Significance	Untested
Disease	Deafness
Variation	info
Gene	PTPRQ
CLNDBN	Deafness, autosomal recessive 84
Reversed	0
HGVS	NC_000012.12:g.80460707A>G
CLNSRC	ClinVar
CLNACC	RCV000144416.1,