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rs786200887

From SNPedia

Orientationminus
Geno Mag Summary
(GGCCTGC;GGCCTGC) 0 common in clinvar
Make rs786200887(-;-)
Make rs786200887(-;GGCCTGC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144514490
GeneRECQL4
is asnp
is mentioned by
dbSNPrs786200887
ebirs786200887
HLIrs786200887
Exacrs786200887
Varsomers786200887
Maprs786200887
PheGenIrs786200887
hapmaprs786200887
1000 genomesrs786200887
hgdprs786200887
ensemblrs786200887
gopubmedrs786200887
geneviewrs786200887
scholarrs786200887
googlers786200887
pharmgkbrs786200887
gwascentralrs786200887
openSNPrs786200887
23andMers786200887
23andMe allrs786200887
SNP Nexus

SNPshotrs786200887
SNPdbers786200887
MSV3drs786200887
GWAS Ctlgrs786200887
Max Magnitude0
ClinVar
Risk rs786200887(;)
Alt rs786200887(;)
Reference rs786200887(GGCCTGC;GGCCTGC)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 1
HGVS NC_000008.10:g.145739874_145739880delGCAGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006434.3,