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rs776496275

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs776496275(C;C)
Make rs776496275(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position40361619
GeneADSL
is asnp
is mentioned by
dbSNPrs776496275
ebirs776496275
HLIrs776496275
Exacrs776496275
Varsomers776496275
Maprs776496275
PheGenIrs776496275
hapmaprs776496275
1000 genomesrs776496275
hgdprs776496275
ensemblrs776496275
gopubmedrs776496275
geneviewrs776496275
scholarrs776496275
googlers776496275
pharmgkbrs776496275
gwascentralrs776496275
openSNPrs776496275
23andMers776496275
23andMe allrs776496275
SNP Nexus

SNPshotrs776496275
SNPdbers776496275
MSV3drs776496275
GWAS Ctlgrs776496275
Max Magnitude0
ClinVar
Risk rs776496275(C;C)
Alt rs776496275(C;C)
Reference rs776496275(G;G)
Significance Probable-Pathogenic
Disease Adenylosuccinate lyase deficiency
Variation info
Gene ADSL
CLNDBN Adenylosuccinate lyase deficiency
Reversed 0
HGVS NC_000022.10:g.40757623G>C
CLNSRC
CLNACC RCV000190501.1,