rs34248917

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs34248917(C;T)

Make rs34248917(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

5890953

Gene

NPHP4

is a	snp
is	mentioned by
dbSNP	rs34248917
dbSNP (classic)	rs34248917
ClinGen	rs34248917
ebi	rs34248917
HLI	rs34248917
Exac	rs34248917
Gnomad	rs34248917
Varsome	rs34248917
LitVar	rs34248917
Map	rs34248917
PheGenI	rs34248917
Biobank	rs34248917
1000 genomes	rs34248917
hgdp	rs34248917
ensembl	rs34248917
geneview	rs34248917
scholar	rs34248917
google	rs34248917
pharmgkb	rs34248917
gwascentral	rs34248917
openSNP	rs34248917
23andMe	rs34248917
SNPshot	rs34248917
SNPdbe	rs34248917
MSV3d	rs34248917
GWAS Ctlg	rs34248917

GMAF

0.006428

Max Magnitude

0

ClinVar
Risk	rs34248917(A;A) rs34248917(T;T)
Alt	rs34248917(A;A) rs34248917(T;T)
Reference	Rs34248917(C;C)
Significance	Other
Disease	Nephronophthisis not specified Renal dysplasia and retinal aplasia
Variation	info
Gene	NPHP4
CLNDBN	Nephronophthisis not specified Renal dysplasia and retinal aplasia
Reversed	0
HGVS	NC_000001.10:g.5951013C>T
CLNSRC	Illumina
CLNACC	RCV000233672.2, RCV000248287.1, RCV000364078.1,