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rs577045722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs577045722(C;C)
Make rs577045722(C;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position174522451
GeneHPGD
is asnp
is mentioned by
dbSNPrs577045722
ebirs577045722
HLIrs577045722
Exacrs577045722
Varsomers577045722
Maprs577045722
PheGenIrs577045722
hapmaprs577045722
1000 genomesrs577045722
hgdprs577045722
ensemblrs577045722
gopubmedrs577045722
geneviewrs577045722
scholarrs577045722
googlers577045722
pharmgkbrs577045722
gwascentralrs577045722
openSNPrs577045722
23andMers577045722
23andMe allrs577045722
SNP Nexus

SNPshotrs577045722
SNPdbers577045722
MSV3drs577045722
GWAS Ctlgrs577045722
Max Magnitude0
ClinVar
Risk rs577045722(A,C;A,C)
Alt rs577045722(A,C;A,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,