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rs1650697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1650697(C;C)
Make rs1650697(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position80654962
GeneDHFR, MSH3
is asnp
is mentioned by
dbSNPrs1650697
dbSNP (old)rs1650697
ClinGenrs1650697
ebirs1650697
HLIrs1650697
Exacrs1650697
Gnomadrs1650697
Varsomers1650697
Maprs1650697
PheGenIrs1650697
Biobankrs1650697
1000 genomesrs1650697
hgdprs1650697
ensemblrs1650697
gopubmedrs1650697
geneviewrs1650697
scholarrs1650697
googlers1650697
pharmgkbrs1650697
gwascentralrs1650697
openSNPrs1650697
23andMers1650697
23andMe allrs1650697
SNP Nexus

SNPshotrs1650697
SNPdbers1650697
MSV3drs1650697
GWAS Ctlgrs1650697
GMAF0.2268
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene MSH3
allele G
frequency 0.183
sift TOLERATED
HuRef 1103654144837
Disease Association Defects in MSH3 are a cause of susceptibility to endometrial cancer (MIM:608089).



[PMID 20737570] Genetic variants in one-carbon metabolism-related genes contribute to NSCLC prognosis in a Chinese population


[PMID 18551366OA-icon.png] Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk.


[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.


[PMID 20472929] Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis.


GET Evidence
MSH3-I79V
aa_change Ile79Val
aa_change_short I79V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.929156
summary



[PMID 25759212OA-icon.png] A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh


[PMID 24732178] Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations


ClinVar
Risk rs1650697(C;C)
Alt rs1650697(C;C)
Reference Rs1650697(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DHFR MSH3
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.79950781A>G
CLNSRC
CLNACC RCV000454914.1,