Have questions? Visit https://www.reddit.com/r/SNPedia

rs727502793

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502793(G;T)
Make rs727502793(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position79973765
GeneTXNL4A
is asnp
is mentioned by
dbSNPrs727502793
ebirs727502793
HLIrs727502793
Exacrs727502793
Varsomers727502793
Maprs727502793
PheGenIrs727502793
hapmaprs727502793
1000 genomesrs727502793
hgdprs727502793
ensemblrs727502793
gopubmedrs727502793
geneviewrs727502793
scholarrs727502793
googlers727502793
pharmgkbrs727502793
gwascentralrs727502793
openSNPrs727502793
23andMers727502793
23andMe allrs727502793
SNP Nexus

SNPshotrs727502793
SNPdbers727502793
MSV3drs727502793
GWAS Ctlgrs727502793
Max Magnitude0
ClinVar
Risk rs727502793(T;T)
Alt rs727502793(T;T)
Reference rs727502793(G;G)
Significance Pathogenic
Disease Burn-McKeown syndrome
Variation info
Gene TXNL4A
CLNDBN Burn-McKeown syndrome
Reversed 1
HGVS NC_000018.9:g.77733765C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149584.4, RCV000170535.1,