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rs138068023

From SNPedia

Orientationplus
Stabilizedplus
Make rs138068023(C;C)
Make rs138068023(C;G)
Make rs138068023(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position47402967
GeneMSH2
is asnp
is mentioned by
dbSNPrs138068023
dbSNP (old)rs138068023
ClinGenrs138068023
ebirs138068023
HLIrs138068023
Exacrs138068023
Gnomadrs138068023
Varsomers138068023
Maprs138068023
PheGenIrs138068023
Biobankrs138068023
1000 genomesrs138068023
hgdprs138068023
ensemblrs138068023
gopubmedrs138068023
geneviewrs138068023
scholarrs138068023
googlers138068023
pharmgkbrs138068023
gwascentralrs138068023
openSNPrs138068023
23andMers138068023
23andMe allrs138068023
SNPshotrs138068023
SNPdbers138068023
MSV3drs138068023
GWAS Ctlgrs138068023
Max Magnitude

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs138068023(C;C)
Alt rs138068023(C;C)
Reference rs138068023(G;G)
Significance Unknown
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47630106G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075983.2, RCV000165718.2, RCV000409105.1,