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rs544956641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs544956641(A;A)
Make rs544956641(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position120650843
GeneHGD
is asnp
is mentioned by
dbSNPrs544956641
dbSNP (classic)rs544956641
ClinGenrs544956641
ebirs544956641
HLIrs544956641
Exacrs544956641
Gnomadrs544956641
Varsomers544956641
LitVarrs544956641
Maprs544956641
PheGenIrs544956641
Biobankrs544956641
1000 genomesrs544956641
hgdprs544956641
ensemblrs544956641
geneviewrs544956641
scholarrs544956641
googlers544956641
pharmgkbrs544956641
gwascentralrs544956641
openSNPrs544956641
23andMers544956641
SNPshotrs544956641
SNPdbers544956641
MSV3drs544956641
GWAS Ctlgrs544956641
Max Magnitude0
ClinVar
Risk rs544956641(A;A)
Alt rs544956641(A;A)
Reference Rs544956641(G;G)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 0
HGVS NC_000003.11:g.120369690G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169217.1,