rs756876301

Orientation

plus

Stabilized

plus

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

Make rs756876301(A;A)

Make rs756876301(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

92517275

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs756876301
dbSNP (classic)	rs756876301
ClinGen	rs756876301
ebi	rs756876301
HLI	rs756876301
Exac	rs756876301
Gnomad	rs756876301
Varsome	rs756876301
LitVar	rs756876301
Map	rs756876301
PheGenI	rs756876301
Biobank	rs756876301
1000 genomes	rs756876301
hgdp	rs756876301
ensembl	rs756876301
geneview	rs756876301
scholar	rs756876301
google	rs756876301
pharmgkb	rs756876301
gwascentral	rs756876301
openSNP	rs756876301
23andMe	rs756876301
SNPshot	rs756876301
SNPdbe	rs756876301
MSV3d	rs756876301
GWAS Ctlg	rs756876301

Max Magnitude

0

ClinVar
Risk	rs756876301(A;A)
Alt	rs756876301(A;A)
Reference	Rs756876301(C;C)
Significance	Pathogenic
Disease	Deafness enamel hypoplasia nail defects
Variation	info
Gene	PEX1
CLNDBN	Deafness enamel hypoplasia nail defects
Reversed	0
HGVS	NC_000007.13:g.92146589C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201308.2,