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rs794726912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726912(C;T)
Make rs794726912(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144517703
GeneLRRC14, RECQL4
is asnp
is mentioned by
dbSNPrs794726912
dbSNP (old)rs794726912
ClinGenrs794726912
ebirs794726912
HLIrs794726912
Exacrs794726912
Gnomadrs794726912
Varsomers794726912
Maprs794726912
PheGenIrs794726912
Biobankrs794726912
1000 genomesrs794726912
hgdprs794726912
ensemblrs794726912
gopubmedrs794726912
geneviewrs794726912
scholarrs794726912
googlers794726912
pharmgkbrs794726912
gwascentralrs794726912
openSNPrs794726912
23andMers794726912
23andMe allrs794726912
SNP Nexus

SNPshotrs794726912
SNPdbers794726912
MSV3drs794726912
GWAS Ctlgrs794726912
Max Magnitude0
ClinVar
Risk rs794726912(A;A) rs794726912(T;T)
Alt rs794726912(A;A) rs794726912(T;T)
Reference Rs794726912(C;C)
Significance Pathogenic
Disease Rothmund-Thomson syndrome Baller-Gerold syndrome
Variation info
Gene LRRC14 RECQL4
CLNDBN Rothmund-Thomson syndrome Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145743087G>A; NC_000008.10:g.145743087G>T
CLNSRC
CLNACC RCV000173328.1, RCV000477529.1,