rs1057517501

Orientation

minus

Stabilized

minus

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

Make rs1057517501(A;T)

Make rs1057517501(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92528435

Gene	PEX1, RBM48

is a	snp
is	mentioned by
dbSNP	rs1057517501
dbSNP (classic)	rs1057517501
ClinGen	rs1057517501
ebi	rs1057517501
HLI	rs1057517501
Exac	rs1057517501
Gnomad	rs1057517501
Varsome	rs1057517501
LitVar	rs1057517501
Map	rs1057517501
PheGenI	rs1057517501
Biobank	rs1057517501
1000 genomes	rs1057517501
hgdp	rs1057517501
ensembl	rs1057517501
geneview	rs1057517501
scholar	rs1057517501
google	rs1057517501
pharmgkb	rs1057517501
gwascentral	rs1057517501
openSNP	rs1057517501
23andMe	rs1057517501
SNPshot	rs1057517501
SNPdbe	rs1057517501
MSV3d	rs1057517501
GWAS Ctlg	rs1057517501

Max Magnitude

0

ClinVar
Risk	rs1057517501(T;T)
Alt	rs1057517501(T;T)
Reference	Rs1057517501(A;A)
Significance	Probable-Pathogenic
Disease	Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation	info
Gene	PEX1 RBM48
CLNDBN	Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed	1
HGVS	NC_000007.13:g.92157749T>A
CLNSRC
CLNACC	RCV000409502.1, RCV000411873.1,