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

rs886043102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome8
Position144514988
GeneRECQL4
is asnp
is mentioned by
dbSNPrs886043102
dbSNP (classic)rs886043102
ClinGenrs886043102
ebirs886043102
HLIrs886043102
Exacrs886043102
Gnomadrs886043102
Varsomers886043102
LitVarrs886043102
Maprs886043102
PheGenIrs886043102
Biobankrs886043102
1000 genomesrs886043102
hgdprs886043102
ensemblrs886043102
geneviewrs886043102
scholarrs886043102
googlers886043102
pharmgkbrs886043102
gwascentralrs886043102
openSNPrs886043102
23andMers886043102
SNPshotrs886043102
SNPdbers886043102
MSV3drs886043102
GWAS Ctlgrs886043102
Max Magnitude0
ClinVar
Risk rs886043102(-;-)
Alt rs886043102(-;-)
Reference Rs886043102(C;C)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 0
HGVS NC_000008.10:g.145740372delC
CLNSRC
CLNACC RCV000334764.1,