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rs768342562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs768342562(-;T)
Make rs768342562(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position40133093
GeneMPLKIP, SUGCT
is asnp
is mentioned by
dbSNPrs768342562
dbSNP (old)rs768342562
ClinGenrs768342562
ebirs768342562
HLIrs768342562
Exacrs768342562
Gnomadrs768342562
Varsomers768342562
Maprs768342562
PheGenIrs768342562
Biobankrs768342562
1000 genomesrs768342562
hgdprs768342562
ensemblrs768342562
gopubmedrs768342562
geneviewrs768342562
scholarrs768342562
googlers768342562
pharmgkbrs768342562
gwascentralrs768342562
openSNPrs768342562
23andMers768342562
23andMe allrs768342562
SNP Nexus

SNPshotrs768342562
SNPdbers768342562
MSV3drs768342562
GWAS Ctlgrs768342562
Max Magnitude0
ClinVar
Risk rs768342562(T;T)
Alt rs768342562(T;T)
Reference Rs768342562(-;-)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene SUGCT MPLKIP
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 0
HGVS NC_000007.13:g.40172693dupT
CLNSRC
CLNACC RCV000202381.1,