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rs587776532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(TC;TC) 0 common in clinvar
Make rs587776532(-;-)
Make rs587776532(-;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position40134291
GeneMPLKIP, SUGCT
is asnp
is mentioned by
dbSNPrs587776532
ebirs587776532
HLIrs587776532
Exacrs587776532
Varsomers587776532
Maprs587776532
PheGenIrs587776532
hapmaprs587776532
1000 genomesrs587776532
hgdprs587776532
ensemblrs587776532
gopubmedrs587776532
geneviewrs587776532
scholarrs587776532
googlers587776532
pharmgkbrs587776532
gwascentralrs587776532
openSNPrs587776532
23andMers587776532
23andMe allrs587776532
SNP Nexus

SNPshotrs587776532
SNPdbers587776532
MSV3drs587776532
GWAS Ctlgrs587776532
Max Magnitude0
ClinVar
Risk rs587776532(AC,C;AC,C)
Alt rs587776532(AC,C;AC,C)
Reference rs587776532(TC;TC)
Significance Pathogenic
Disease Trichothiodystrophy
Variation info
Gene MPLKIP C7orf10
CLNDBN Trichothiodystrophy, nonphotosensitive 1
Reversed 1
HGVS NC_000007.13:g.40173890delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001921.5,