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

rs727502794

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502794(C;T)
Make rs727502794(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position79988356
GeneTXNL4A
is asnp
is mentioned by
dbSNPrs727502794
ebirs727502794
HLIrs727502794
Exacrs727502794
Varsomers727502794
Maprs727502794
PheGenIrs727502794
hapmaprs727502794
1000 genomesrs727502794
hgdprs727502794
ensemblrs727502794
gopubmedrs727502794
geneviewrs727502794
scholarrs727502794
googlers727502794
pharmgkbrs727502794
gwascentralrs727502794
openSNPrs727502794
23andMers727502794
23andMe allrs727502794
SNP Nexus

SNPshotrs727502794
SNPdbers727502794
MSV3drs727502794
GWAS Ctlgrs727502794
Max Magnitude0
ClinVar
Risk rs727502794(T;T)
Alt rs727502794(T;T)
Reference rs727502794(C;C)
Significance Pathogenic
Disease Burn-McKeown syndrome
Variation info
Gene TXNL4A
CLNDBN Burn-McKeown syndrome
Reversed 1
HGVS NC_000018.9:g.77748356G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149585.4, RCV000170536.1,