rs863225085

Orientation

minus

Stabilized

minus

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

Make rs863225085(A;A)

Make rs863225085(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

92489310

Gene	GATAD1, PEX1

is a	snp
is	mentioned by
dbSNP	rs863225085
dbSNP (classic)	rs863225085
ClinGen	rs863225085
ebi	rs863225085
HLI	rs863225085
Exac	rs863225085
Gnomad	rs863225085
Varsome	rs863225085
LitVar	rs863225085
Map	rs863225085
PheGenI	rs863225085
Biobank	rs863225085
1000 genomes	rs863225085
hgdp	rs863225085
ensembl	rs863225085
geneview	rs863225085
scholar	rs863225085
google	rs863225085
pharmgkb	rs863225085
gwascentral	rs863225085
openSNP	rs863225085
23andMe	rs863225085
SNPshot	rs863225085
SNPdbe	rs863225085
MSV3d	rs863225085
GWAS Ctlg	rs863225085

Max Magnitude

0

ClinVar
Risk	rs863225085(A;A)
Alt	rs863225085(A;A)
Reference	Rs863225085(G;G)
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.92118624C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201292.1,