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rs137853117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853117(A;G)
Make rs137853117(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position40133169
GeneC7orf10, C7orf11
is asnp
is mentioned by
dbSNPrs137853117
ebirs137853117
HLIrs137853117
Exacrs137853117
Varsomers137853117
Maprs137853117
PheGenIrs137853117
hapmaprs137853117
1000 genomesrs137853117
hgdprs137853117
ensemblrs137853117
gopubmedrs137853117
geneviewrs137853117
scholarrs137853117
googlers137853117
pharmgkbrs137853117
gwascentralrs137853117
openSNPrs137853117
23andMers137853117
23andMe allrs137853117
SNP Nexus

SNPshotrs137853117
SNPdbers137853117
MSV3drs137853117
GWAS Ctlgrs137853117
Max Magnitude0
OMIM609188
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853117(G;G)
Alt rs137853117(G;G)
Reference rs137853117(A;A)
Significance Pathogenic
Disease Trichothiodystrophy
Variation info
Gene SUGCT MPLKIP
CLNDBN Trichothiodystrophy, nonphotosensitive 1
Reversed 1
HGVS NC_000007.13:g.40172768T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001918.4,