rs28940891

Orientation

minus

Stabilized

minus

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

Make rs28940891(C;C)

Make rs28940891(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

5874946

Gene

NPHP4

is a	snp
is	mentioned by
dbSNP	rs28940891
dbSNP (classic)	rs28940891
ClinGen	rs28940891
ebi	rs28940891
HLI	rs28940891
Exac	rs28940891
Gnomad	rs28940891
Varsome	rs28940891
LitVar	rs28940891
Map	rs28940891
PheGenI	rs28940891
Biobank	rs28940891
1000 genomes	rs28940891
hgdp	rs28940891
ensembl	rs28940891
geneview	rs28940891
scholar	rs28940891
google	rs28940891
pharmgkb	rs28940891
gwascentral	rs28940891
openSNP	rs28940891
23andMe	rs28940891
SNPshot	rs28940891
SNPdbe	rs28940891
MSV3d	rs28940891
GWAS Ctlg	rs28940891

Merged from

Rs137852921

Max Magnitude

0

OMIM	607215
Desc	NEPHRONOPHTHISIS 4, JUVENILE
Variant	0004
Related	also

ClinVar
Risk	rs28940891(C;C)
Alt	rs28940891(C;C)
Reference	Rs28940891(T;T)
Significance	Pathogenic
Disease	Nephronophthisis 4
Variation	info
Gene	NPHP4
CLNDBN	Nephronophthisis 4
Reversed	1
HGVS	NC_000001.10:g.5935006A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003571.2,