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rs879255559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255559(A;G)
Make rs879255559(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position79988237
GeneTXNL4A
is asnp
is mentioned by
dbSNPrs879255559
dbSNP (classic)rs879255559
ClinGenrs879255559
ebirs879255559
HLIrs879255559
Exacrs879255559
Gnomadrs879255559
Varsomers879255559
LitVarrs879255559
Maprs879255559
PheGenIrs879255559
Biobankrs879255559
1000 genomesrs879255559
hgdprs879255559
ensemblrs879255559
geneviewrs879255559
scholarrs879255559
googlers879255559
pharmgkbrs879255559
gwascentralrs879255559
openSNPrs879255559
23andMers879255559
SNPshotrs879255559
SNPdbers879255559
MSV3drs879255559
GWAS Ctlgrs879255559
Max Magnitude0
ClinVar
Risk rs879255559(G;G)
Alt rs879255559(G;G)
Reference Rs879255559(A;A)
Significance Pathogenic
Disease Burn-McKeown syndrome
Variation info
Gene TXNL4A
CLNDBN Burn-McKeown syndrome
Reversed 1
HGVS NC_000018.9:g.77748237T>C
CLNSRC
CLNACC RCV000239646.1,