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

rs786200890

From SNPedia

Orientationminus
Geno Mag Summary
(TCACAG;TCACAG) 0 common in clinvar
Make rs786200890(-;-)
Make rs786200890(-;TCACAG)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144514062
GeneRECQL4
is asnp
is mentioned by
dbSNPrs786200890
ebirs786200890
HLIrs786200890
Exacrs786200890
Varsomers786200890
Maprs786200890
PheGenIrs786200890
hapmaprs786200890
1000 genomesrs786200890
hgdprs786200890
ensemblrs786200890
gopubmedrs786200890
geneviewrs786200890
scholarrs786200890
googlers786200890
pharmgkbrs786200890
gwascentralrs786200890
openSNPrs786200890
23andMers786200890
23andMe allrs786200890
SNP Nexus

SNPshotrs786200890
SNPdbers786200890
MSV3drs786200890
GWAS Ctlgrs786200890
Max Magnitude0
ClinVar
Risk rs786200890(;)
Alt rs786200890(;)
Reference rs786200890(TCACAG;TCACAG)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 1
HGVS NC_000008.10:g.145739446_145739451delCTGTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006449.3,