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rs2230600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 1.9
Make rs2230600(A;A)
Make rs2230600(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position86769845
GenePTPN13
is asnp
is mentioned by
dbSNPrs2230600
ebirs2230600
HLIrs2230600
Exacrs2230600
Varsomers2230600
Maprs2230600
PheGenIrs2230600
hapmaprs2230600
1000 genomesrs2230600
hgdprs2230600
ensemblrs2230600
gopubmedrs2230600
geneviewrs2230600
scholarrs2230600
googlers2230600
pharmgkbrs2230600
gwascentralrs2230600
openSNPrs2230600
23andMers2230600
23andMe allrs2230600
SNP Nexus

SNPshotrs2230600
SNPdbers2230600
MSV3drs2230600
GWAS Ctlgrs2230600
GMAF0.1855
Max Magnitude1.9
? (A;A) (A;G) (G;G) 28
[PMID 19892796OA-icon.png] rs2230600 We found that a significantly increased squamous cell carcinoma of the head and neck risk was associated with the c.4566 I1522M (G;G) genotype [odds ratio (OR), 1.89; 95% confidence interval (CI), 1.27-2.79


GET Evidence
PTPN13-I1527M
aa_change Ile1527Met
aa_change_short I1527M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.123871
summary



ClinVar
Risk rs2230600(G;G)
Alt rs2230600(G;G)
Reference rs2230600(A;A)
Significance Untested
Disease Malignant melanoma of skin
Variation info
Gene PTPN13
CLNDBN Malignant melanoma of skin
Reversed 0
HGVS NC_000004.12:g.86769845A>G
CLNSRC
CLNACC RCV000149694.1,