rs398124546

Orientation

minus

Stabilized

minus

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

Make rs398124546(C;C)

Make rs398124546(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

132692760

Gene	NPHP3, NPHP3-ACAD11

is a	snp
is	mentioned by
dbSNP	rs398124546
dbSNP (classic)	rs398124546
ClinGen	rs398124546
ebi	rs398124546
HLI	rs398124546
Exac	rs398124546
Gnomad	rs398124546
Varsome	rs398124546
LitVar	rs398124546
Map	rs398124546
PheGenI	rs398124546
Biobank	rs398124546
1000 genomes	rs398124546
hgdp	rs398124546
ensembl	rs398124546
geneview	rs398124546
scholar	rs398124546
google	rs398124546
pharmgkb	rs398124546
gwascentral	rs398124546
openSNP	rs398124546
23andMe	rs398124546
SNPshot	rs398124546
SNPdbe	rs398124546
MSV3d	rs398124546
GWAS Ctlg	rs398124546

Max Magnitude

0

ClinVar
Risk	rs398124546(C;C)
Alt	rs398124546(C;C)
Reference	Rs398124546(T;T)
Significance	Probable-Pathogenic
Disease	not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Variation	info
Gene	NPHP3 NPHP3-ACAD11
CLNDBN	not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Reversed	1
HGVS	NC_000003.11:g.132411604A>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000082664.3, RCV000175246.2, RCV000175247.2,