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rs878854339

From SNPedia

Orientationminus
Geno Mag Summary
(CACAC;CACAC) 0 common in clinvar
Make rs878854339(-;-)
Make rs878854339(-;CACAC)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position40134416
GeneMPLKIP, SUGCT
is asnp
is mentioned by
dbSNPrs878854339
ebirs878854339
HLIrs878854339
Exacrs878854339
Varsomers878854339
Maprs878854339
PheGenIrs878854339
hapmaprs878854339
1000 genomesrs878854339
hgdprs878854339
ensemblrs878854339
gopubmedrs878854339
geneviewrs878854339
scholarrs878854339
googlers878854339
pharmgkbrs878854339
gwascentralrs878854339
openSNPrs878854339
23andMers878854339
23andMe allrs878854339
SNP Nexus

SNPshotrs878854339
SNPdbers878854339
MSV3drs878854339
GWAS Ctlgrs878854339
Max Magnitude0
ClinVar
Risk rs878854339(;)
Alt rs878854339(;)
Reference rs878854339(CACAC;CACAC)
Significance Pathogenic
Disease Trichothiodystrophy
Variation info
Gene SUGCT MPLKIP
CLNDBN Trichothiodystrophy, nonphotosensitive 1
Reversed 1
HGVS NC_000007.13:g.40174015_40174019delGTGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001922.4,