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rs760363252

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760363252(C;T)
Make rs760363252(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position144514441
GeneRECQL4
is asnp
is mentioned by
dbSNPrs760363252
ebirs760363252
HLIrs760363252
Exacrs760363252
Varsomers760363252
Maprs760363252
PheGenIrs760363252
hapmaprs760363252
1000 genomesrs760363252
hgdprs760363252
ensemblrs760363252
gopubmedrs760363252
geneviewrs760363252
scholarrs760363252
googlers760363252
pharmgkbrs760363252
gwascentralrs760363252
openSNPrs760363252
23andMers760363252
23andMe allrs760363252
SNP Nexus

SNPshotrs760363252
SNPdbers760363252
MSV3drs760363252
GWAS Ctlgrs760363252
Max Magnitude0
ClinVar
Risk rs760363252(T;T)
Alt rs760363252(T;T)
Reference rs760363252(C;C)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 0
HGVS NC_000008.10:g.145739825C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006450.3,