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rs117642173

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs117642173(C;T)
Make rs117642173(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position144515243
GeneRECQL4
is asnp
is mentioned by
dbSNPrs117642173
ebirs117642173
HLIrs117642173
Exacrs117642173
Varsomers117642173
Maprs117642173
PheGenIrs117642173
hapmaprs117642173
1000 genomesrs117642173
hgdprs117642173
ensemblrs117642173
gopubmedrs117642173
geneviewrs117642173
scholarrs117642173
googlers117642173
pharmgkbrs117642173
gwascentralrs117642173
openSNPrs117642173
23andMers117642173
23andMe allrs117642173
SNP Nexus

SNPshotrs117642173
SNPdbers117642173
MSV3drs117642173
GWAS Ctlgrs117642173
Max Magnitude0
ClinVar
Risk rs117642173(T;T)
Alt rs117642173(T;T)
Reference rs117642173(C;C)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 0
HGVS NC_000008.10:g.145740627C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006439.3,