rs119456964

Orientation

minus

Stabilized

minus

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

Make rs119456964(C;T)

Make rs119456964(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

132684784

Gene	NPHP3, NPHP3-ACAD11

is a	snp
is	mentioned by
dbSNP	rs119456964
dbSNP (classic)	rs119456964
ClinGen	rs119456964
ebi	rs119456964
HLI	rs119456964
Exac	rs119456964
Gnomad	rs119456964
Varsome	rs119456964
LitVar	rs119456964
Map	rs119456964
PheGenI	rs119456964
Biobank	rs119456964
1000 genomes	rs119456964
hgdp	rs119456964
ensembl	rs119456964
geneview	rs119456964
scholar	rs119456964
google	rs119456964
pharmgkb	rs119456964
gwascentral	rs119456964
openSNP	rs119456964
23andMe	rs119456964
SNPshot	rs119456964
SNPdbe	rs119456964
MSV3d	rs119456964
GWAS Ctlg	rs119456964

Max Magnitude

0

OMIM	608002
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119456964(T;T)
Alt	rs119456964(T;T)
Reference	Rs119456964(C;C)
Significance	Pathogenic
Disease	Renal-hepatic-pancreatic dysplasia
Variation	info
Gene	NPHP3 NPHP3-ACAD11
CLNDBN	Renal-hepatic-pancreatic dysplasia
Reversed	1
HGVS	NC_000003.11:g.132403628G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002757.5,