rs370483961

Orientation

plus

Stabilized

plus

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

Make rs370483961(C;T)

Make rs370483961(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

92507055

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs370483961
dbSNP (classic)	rs370483961
ClinGen	rs370483961
ebi	rs370483961
HLI	rs370483961
Exac	rs370483961
Gnomad	rs370483961
Varsome	rs370483961
LitVar	rs370483961
Map	rs370483961
PheGenI	rs370483961
Biobank	rs370483961
1000 genomes	rs370483961
hgdp	rs370483961
ensembl	rs370483961
geneview	rs370483961
scholar	rs370483961
google	rs370483961
pharmgkb	rs370483961
gwascentral	rs370483961
openSNP	rs370483961
23andMe	rs370483961
SNPshot	rs370483961
SNPdbe	rs370483961
MSV3d	rs370483961
GWAS Ctlg	rs370483961

Max Magnitude

0

ClinVar
Risk	rs370483961(G;G) rs370483961(T;T)
Alt	rs370483961(G;G) rs370483961(T;T)
Reference	Rs370483961(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.92136369C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000201302.1,