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rs587776531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
(GGA;GGA) 0 common in clinvar
Make rs587776531(-;-)
Make rs587776531(-;CC)
ReferenceGRCh38 38.1/142
Chromosome7
Position40134430
GeneMPLKIP, SUGCT
is asnp
is mentioned by
dbSNPrs587776531
ebirs587776531
HLIrs587776531
Exacrs587776531
Varsomers587776531
Maprs587776531
PheGenIrs587776531
hapmaprs587776531
1000 genomesrs587776531
hgdprs587776531
ensemblrs587776531
gopubmedrs587776531
geneviewrs587776531
scholarrs587776531
googlers587776531
pharmgkbrs587776531
gwascentralrs587776531
openSNPrs587776531
23andMers587776531
23andMe allrs587776531
SNP Nexus

SNPshotrs587776531
SNPdbers587776531
MSV3drs587776531
GWAS Ctlgrs587776531
Max Magnitude0
ClinVar
Risk rs587776531(CCA,A;CCA,A)
Alt rs587776531(CCA,A;CCA,A)
Reference rs587776531(GGA;GGA)
Significance Pathogenic
Disease Trichothiodystrophy
Variation info
Gene MPLKIP C7orf10
CLNDBN Trichothiodystrophy, nonphotosensitive 1
Reversed 1
HGVS NC_000007.13:g.40174029_40174030delCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001919.4,