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rs727502795

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727502795(-;-)
Make rs727502795(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position79988262
GeneTXNL4A
is asnp
is mentioned by
dbSNPrs727502795
ebirs727502795
HLIrs727502795
Exacrs727502795
Varsomers727502795
Maprs727502795
PheGenIrs727502795
hapmaprs727502795
1000 genomesrs727502795
hgdprs727502795
ensemblrs727502795
gopubmedrs727502795
geneviewrs727502795
scholarrs727502795
googlers727502795
pharmgkbrs727502795
gwascentralrs727502795
openSNPrs727502795
23andMers727502795
23andMe allrs727502795
SNP Nexus

SNPshotrs727502795
SNPdbers727502795
MSV3drs727502795
GWAS Ctlgrs727502795
Max Magnitude0
ClinVar
Risk rs727502795(;)
Alt rs727502795(;)
Reference rs727502795(T;T)
Significance Pathogenic
Disease Burn-McKeown syndrome
Variation info
Gene TXNL4A
CLNDBN Burn-McKeown syndrome
Reversed 1
HGVS NC_000018.9:g.77748262delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000149586.4, RCV000170539.1,