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rs752729755

From SNPedia

Orientationplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs752729755(-;-)
Make rs752729755(-;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position144513109
GeneRECQL4
is asnp
is mentioned by
dbSNPrs752729755
ebirs752729755
HLIrs752729755
Exacrs752729755
Varsomers752729755
Maprs752729755
PheGenIrs752729755
hapmaprs752729755
1000 genomesrs752729755
hgdprs752729755
ensemblrs752729755
gopubmedrs752729755
geneviewrs752729755
scholarrs752729755
googlers752729755
pharmgkbrs752729755
gwascentralrs752729755
openSNPrs752729755
23andMers752729755
23andMe allrs752729755
SNP Nexus

SNPshotrs752729755
SNPdbers752729755
MSV3drs752729755
GWAS Ctlgrs752729755
Max Magnitude0
ClinVar
Risk rs752729755(;)
Alt rs752729755(;)
Reference rs752729755(AT;AT)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 0
HGVS NC_000008.10:g.145738492_145738493delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006436.3,