rs397514599

Orientation

minus

Stabilized

minus

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

Make rs397514599(A;G)

Make rs397514599(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

55656148

Gene

PNPT1

is a	snp
is	mentioned by
dbSNP	rs397514599
dbSNP (classic)	rs397514599
ClinGen	rs397514599
ebi	rs397514599
HLI	rs397514599
Exac	rs397514599
Gnomad	rs397514599
Varsome	rs397514599
LitVar	rs397514599
Map	rs397514599
PheGenI	rs397514599
Biobank	rs397514599
1000 genomes	rs397514599
hgdp	rs397514599
ensembl	rs397514599
geneview	rs397514599
scholar	rs397514599
google	rs397514599
pharmgkb	rs397514599
gwascentral	rs397514599
openSNP	rs397514599
23andMe	rs397514599
SNPshot	rs397514599
SNPdbe	rs397514599
MSV3d	rs397514599
GWAS Ctlg	rs397514599

Max Magnitude

0

ClinVar
Risk	rs397514599(G;G)
Alt	rs397514599(G;G)
Reference	Rs397514599(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	PNPT1
CLNDBN	Deafness, autosomal recessive 70
Reversed	1
HGVS	NC_000002.11:g.55883283T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033023.3,