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rs746636748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs746636748(-;-)
Make rs746636748(-;TC)
Make rs746636748(TC;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144516070
GeneLRRC14, RECQL4
is asnp
is mentioned by
dbSNPrs746636748
dbSNP (old)rs746636748
ClinGenrs746636748
ebirs746636748
HLIrs746636748
Exacrs746636748
Gnomadrs746636748
Varsomers746636748
Maprs746636748
PheGenIrs746636748
Biobankrs746636748
1000 genomesrs746636748
hgdprs746636748
ensemblrs746636748
gopubmedrs746636748
geneviewrs746636748
scholarrs746636748
googlers746636748
pharmgkbrs746636748
gwascentralrs746636748
openSNPrs746636748
23andMers746636748
23andMe allrs746636748
SNP Nexus

SNPshotrs746636748
SNPdbers746636748
MSV3drs746636748
GWAS Ctlgrs746636748
Max Magnitude0
ClinVar
Risk rs746636748(-;-)
Alt rs746636748(-;-)
Reference Rs746636748(CT;CT)
Significance Pathogenic
Disease Rothmund-Thomson syndrome Baller-Gerold syndrome
Variation info
Gene RECQL4 LRRC14
CLNDBN Rothmund-Thomson syndrome Baller-Gerold syndrome
Reversed 0
HGVS NC_000008.10:g.145741454_145741455delCT
CLNSRC
CLNACC RCV000178888.1, RCV000471676.1,