rs577045722

Orientation

plus

Stabilized

plus

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

Make rs577045722(C;C)

Make rs577045722(C;T)

Reference

GRCh38 38.1/142

Chromosome

4

Position

174522451

Gene	HPGD, LOC105377548

is a	snp
is	mentioned by
dbSNP	rs577045722
dbSNP (classic)	rs577045722
ClinGen	rs577045722
ebi	rs577045722
HLI	rs577045722
Exac	rs577045722
Gnomad	rs577045722
Varsome	rs577045722
LitVar	rs577045722
Map	rs577045722
PheGenI	rs577045722
Biobank	rs577045722
1000 genomes	rs577045722
hgdp	rs577045722
ensembl	rs577045722
geneview	rs577045722
scholar	rs577045722
google	rs577045722
pharmgkb	rs577045722
gwascentral	rs577045722
openSNP	rs577045722
23andMe	rs577045722
SNPshot	rs577045722
SNPdbe	rs577045722
MSV3d	rs577045722
GWAS Ctlg	rs577045722

Max Magnitude

0

ClinVar
Risk	rs577045722(A;A) rs577045722(C;C)
Alt	rs577045722(A;A) rs577045722(C;C)
Reference	Rs577045722(T;T)
Significance	Pathogenic
Disease	Pachydermoperiostosis syndrome
Variation	info
Gene	HPGD
CLNDBN	Pachydermoperiostosis syndrome
Reversed	0
HGVS	NC_000004.11:g.175443602T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144085.2,