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rs80358238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358238(A;G)
Make rs80358238(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position172665636
GeneFASLG
is asnp
is mentioned by
dbSNPrs80358238
ebirs80358238
HLIrs80358238
Exacrs80358238
Varsomers80358238
Maprs80358238
PheGenIrs80358238
hapmaprs80358238
1000 genomesrs80358238
hgdprs80358238
ensemblrs80358238
gopubmedrs80358238
geneviewrs80358238
scholarrs80358238
googlers80358238
pharmgkbrs80358238
gwascentralrs80358238
openSNPrs80358238
23andMers80358238
23andMe allrs80358238
SNP Nexus

SNPshotrs80358238
SNPdbers80358238
MSV3drs80358238
GWAS Ctlgrs80358238
Max Magnitude0
ClinVar
Risk rs80358238(G;G)
Alt rs80358238(G;G)
Reference rs80358238(A;A)
Significance Pathogenic
Disease Autoimmune lymphoproliferative syndrome
Variation info
Gene FASLG
CLNDBN Autoimmune lymphoproliferative syndrome
Reversed 0
HGVS NC_000001.10:g.172634776A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020369.2,


[PMID 17605793OA-icon.png] Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.