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rs554254383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs554254383(A;A)
Make rs554254383(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position40364976
GeneADSL
is asnp
is mentioned by
dbSNPrs554254383
dbSNP (classic)rs554254383
ClinGenrs554254383
ebirs554254383
HLIrs554254383
Exacrs554254383
Gnomadrs554254383
Varsomers554254383
LitVarrs554254383
Maprs554254383
PheGenIrs554254383
Biobankrs554254383
1000 genomesrs554254383
hgdprs554254383
ensemblrs554254383
geneviewrs554254383
scholarrs554254383
googlers554254383
pharmgkbrs554254383
gwascentralrs554254383
openSNPrs554254383
23andMers554254383
SNPshotrs554254383
SNPdbers554254383
MSV3drs554254383
GWAS Ctlgrs554254383
Max Magnitude0
ClinVar
Risk rs554254383(A;A)
Alt rs554254383(A;A)
Reference Rs554254383(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ADSL
CLNDBN not provided
Reversed 0
HGVS NC_000022.10:g.40760980G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186694.1,