rs137852920

Orientation

minus

Stabilized

minus

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

Make rs137852920(C;T)

Make rs137852920(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

5904716

Gene

NPHP4

is a	snp
is	mentioned by
dbSNP	rs137852920
dbSNP (classic)	rs137852920
ClinGen	rs137852920
ebi	rs137852920
HLI	rs137852920
Exac	rs137852920
Gnomad	rs137852920
Varsome	rs137852920
LitVar	rs137852920
Map	rs137852920
PheGenI	rs137852920
Biobank	rs137852920
1000 genomes	rs137852920
hgdp	rs137852920
ensembl	rs137852920
geneview	rs137852920
scholar	rs137852920
google	rs137852920
pharmgkb	rs137852920
gwascentral	rs137852920
openSNP	rs137852920
23andMe	rs137852920
SNPshot	rs137852920
SNPdbe	rs137852920
MSV3d	rs137852920
GWAS Ctlg	rs137852920

Max Magnitude

0

OMIM	607215
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852920(T;T)
Alt	rs137852920(T;T)
Reference	Rs137852920(C;C)
Significance	Pathogenic
Disease	Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis Infertility
Variation	info
Gene	NPHP4
CLNDBN	Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) Infertility
Reversed	1
HGVS	NC_000001.10:g.5964776G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003570.2, RCV000162133.1,