rs121907899

Orientation

minus

Stabilized

minus

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

Make rs121907899(A;A)

Make rs121907899(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

110163048

Gene

NPHP1

is a	snp
is	mentioned by
dbSNP	rs121907899
dbSNP (classic)	rs121907899
ClinGen	rs121907899
ebi	rs121907899
HLI	rs121907899
Exac	rs121907899
Gnomad	rs121907899
Varsome	rs121907899
LitVar	rs121907899
Map	rs121907899
PheGenI	rs121907899
Biobank	rs121907899
1000 genomes	rs121907899
hgdp	rs121907899
ensembl	rs121907899
geneview	rs121907899
scholar	rs121907899
google	rs121907899
pharmgkb	rs121907899
gwascentral	rs121907899
openSNP	rs121907899
23andMe	rs121907899
SNPshot	rs121907899
SNPdbe	rs121907899
MSV3d	rs121907899
GWAS Ctlg	rs121907899

GMAF

0.0004591

Max Magnitude

0

OMIM	607100
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121907899(A;A)
Alt	rs121907899(A;A)
Reference	Rs121907899(G;G)
Significance	Pathogenic
Disease	Nephronophthisis 1
Variation	info
Gene	NPHP1
CLNDBN	Nephronophthisis 1
Reversed	1
HGVS	NC_000002.11:g.110920625C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003685.3,