rs863225084

Orientation

minus

Stabilized

minus

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

Make rs863225084(G;G)

Make rs863225084(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

92503153

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs863225084
dbSNP (classic)	rs863225084
ClinGen	rs863225084
ebi	rs863225084
HLI	rs863225084
Exac	rs863225084
Gnomad	rs863225084
Varsome	rs863225084
LitVar	rs863225084
Map	rs863225084
PheGenI	rs863225084
Biobank	rs863225084
1000 genomes	rs863225084
hgdp	rs863225084
ensembl	rs863225084
geneview	rs863225084
scholar	rs863225084
google	rs863225084
pharmgkb	rs863225084
gwascentral	rs863225084
openSNP	rs863225084
23andMe	rs863225084
SNPshot	rs863225084
SNPdbe	rs863225084
MSV3d	rs863225084
GWAS Ctlg	rs863225084

Max Magnitude

0

ClinVar
Risk	rs863225084(G;G)
Alt	rs863225084(G;G)
Reference	Rs863225084(T;T)
Significance	Pathogenic
Disease	Deafness enamel hypoplasia nail defects
Variation	info
Gene	PEX1
CLNDBN	Deafness enamel hypoplasia nail defects
Reversed	1
HGVS	NC_000007.13:g.92132467A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000201290.1,