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rs28929498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28929498(A;T)
Make rs28929498(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position89014221
GeneFAS
is asnp
is mentioned by
dbSNPrs28929498
ebirs28929498
HLIrs28929498
Exacrs28929498
Varsomers28929498
Maprs28929498
PheGenIrs28929498
hapmaprs28929498
1000 genomesrs28929498
hgdprs28929498
ensemblrs28929498
gopubmedrs28929498
geneviewrs28929498
scholarrs28929498
googlers28929498
pharmgkbrs28929498
gwascentralrs28929498
openSNPrs28929498
23andMers28929498
23andMe allrs28929498
SNP Nexus

SNPshotrs28929498
SNPdbers28929498
MSV3drs28929498
GWAS Ctlgrs28929498
Max Magnitude0
OMIM134637
DescAUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
Variant0008
Relatedalso

NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP

OMIM134637
DescSQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
Variant0014
Relatedalso
Neighborrs28929499
Distance39


ClinVar
Risk rs28929498(T;T)
Alt rs28929498(T;T)
Reference rs28929498(A;A)
Significance Pathogenic
Disease Autoimmune lymphoproliferative syndrome
Variation info
Gene FAS
CLNDBN Autoimmune lymphoproliferative syndrome, type 1a
Reversed 0
HGVS NC_000010.10:g.90773978A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017968.25,