rs1057519305

Orientation

plus

Stabilized

plus

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

Make rs1057519305(A;A)

Make rs1057519305(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

41816937

Gene

MAPKBP1

is a	snp
is	mentioned by
dbSNP	rs1057519305
dbSNP (classic)	rs1057519305
ClinGen	rs1057519305
ebi	rs1057519305
HLI	rs1057519305
Exac	rs1057519305
Gnomad	rs1057519305
Varsome	rs1057519305
LitVar	rs1057519305
Map	rs1057519305
PheGenI	rs1057519305
Biobank	rs1057519305
1000 genomes	rs1057519305
hgdp	rs1057519305
ensembl	rs1057519305
geneview	rs1057519305
scholar	rs1057519305
google	rs1057519305
pharmgkb	rs1057519305
gwascentral	rs1057519305
openSNP	rs1057519305
23andMe	rs1057519305
SNPshot	rs1057519305
SNPdbe	rs1057519305
MSV3d	rs1057519305
GWAS Ctlg	rs1057519305

Max Magnitude

0

ClinVar
Risk	rs1057519305(A;A)
Alt	rs1057519305(A;A)
Reference	Rs1057519305(G;G)
Significance	Pathogenic
Disease	Nephronophthisis 20
Variation	info
Gene	MAPKBP1
CLNDBN	Nephronophthisis 20
Reversed	0
HGVS	NC_000015.9:g.42109135G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415534.2,