rs1057519303

Orientation

plus

Stabilized

plus

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

Make rs1057519303(C;T)

Make rs1057519303(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

41812609

Gene

MAPKBP1

is a	snp
is	mentioned by
dbSNP	rs1057519303
dbSNP (classic)	rs1057519303
ClinGen	rs1057519303
ebi	rs1057519303
HLI	rs1057519303
Exac	rs1057519303
Gnomad	rs1057519303
Varsome	rs1057519303
LitVar	rs1057519303
Map	rs1057519303
PheGenI	rs1057519303
Biobank	rs1057519303
1000 genomes	rs1057519303
hgdp	rs1057519303
ensembl	rs1057519303
geneview	rs1057519303
scholar	rs1057519303
google	rs1057519303
pharmgkb	rs1057519303
gwascentral	rs1057519303
openSNP	rs1057519303
23andMe	rs1057519303
SNPshot	rs1057519303
SNPdbe	rs1057519303
MSV3d	rs1057519303
GWAS Ctlg	rs1057519303

Max Magnitude

0

ClinVar
Risk	rs1057519303(T;T)
Alt	rs1057519303(T;T)
Reference	Rs1057519303(C;C)
Significance	Pathogenic
Disease	Nephronophthisis 20
Variation	info
Gene	MAPKBP1
CLNDBN	Nephronophthisis 20
Reversed	0
HGVS	NC_000015.9:g.42104807C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415517.2,