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rs80358237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358237(A;A)
Make rs80358237(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position172665910
GeneFASLG
is asnp
is mentioned by
dbSNPrs80358237
dbSNP (classic)rs80358237
ClinGenrs80358237
ebirs80358237
HLIrs80358237
Exacrs80358237
Gnomadrs80358237
Varsomers80358237
LitVarrs80358237
Maprs80358237
PheGenIrs80358237
Biobankrs80358237
1000 genomesrs80358237
hgdprs80358237
ensemblrs80358237
geneviewrs80358237
scholarrs80358237
googlers80358237
pharmgkbrs80358237
gwascentralrs80358237
openSNPrs80358237
23andMers80358237
SNPshotrs80358237
SNPdbers80358237
MSV3drs80358237
GWAS Ctlgrs80358237
Max Magnitude0
ClinVar
Risk rs80358237(A;A)
Alt rs80358237(A;A)
Reference Rs80358237(C;C)
Significance Pathogenic
Disease Autoimmune lymphoproliferative syndrome
Variation info
Gene FASLG
CLNDBN Autoimmune lymphoproliferative syndrome
Reversed 0
HGVS NC_000001.11:g.172665910C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020371.2,


[PMID 16627752] A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.