rs119456962

Orientation

minus

Stabilized

minus

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

Make rs119456962(C;T)

Make rs119456962(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

132700348

Gene	NPHP3, NPHP3-ACAD11

is a	snp
is	mentioned by
dbSNP	rs119456962
dbSNP (classic)	rs119456962
ClinGen	rs119456962
ebi	rs119456962
HLI	rs119456962
Exac	rs119456962
Gnomad	rs119456962
Varsome	rs119456962
LitVar	rs119456962
Map	rs119456962
PheGenI	rs119456962
Biobank	rs119456962
1000 genomes	rs119456962
hgdp	rs119456962
ensembl	rs119456962
geneview	rs119456962
scholar	rs119456962
google	rs119456962
pharmgkb	rs119456962
gwascentral	rs119456962
openSNP	rs119456962
23andMe	rs119456962
SNPshot	rs119456962
SNPdbe	rs119456962
MSV3d	rs119456962
GWAS Ctlg	rs119456962

Max Magnitude

0

OMIM	608002
Desc
Variant	0005
Related	also

ClinVar
Risk	rs119456962(T;T)
Alt	rs119456962(T;T)
Reference	Rs119456962(C;C)
Significance	Pathogenic
Disease	Meckel syndrome type 7 not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Variation	info
Gene	NPHP3 NPHP3-ACAD11
CLNDBN	Meckel syndrome type 7 not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Reversed	1
HGVS	NC_000003.11:g.132419192G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000002755.4, RCV000082662.3, RCV000174179.1, RCV000174180.1,