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rs142619552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142619552(C;T)
Make rs142619552(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position2030014
GeneGABRD
is asnp
is mentioned by
dbSNPrs142619552
dbSNP (classic)rs142619552
ClinGenrs142619552
ebirs142619552
HLIrs142619552
Exacrs142619552
Gnomadrs142619552
Varsomers142619552
LitVarrs142619552
Maprs142619552
PheGenIrs142619552
Biobankrs142619552
1000 genomesrs142619552
hgdprs142619552
ensemblrs142619552
geneviewrs142619552
scholarrs142619552
googlers142619552
pharmgkbrs142619552
gwascentralrs142619552
openSNPrs142619552
23andMers142619552
SNPshotrs142619552
SNPdbers142619552
MSV3drs142619552
GWAS Ctlgrs142619552
Max Magnitude0

[PMID 21499247OA-icon.png] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.

ClinVar
Risk rs142619552(T;T)
Alt rs142619552(T;T)
Reference Rs142619552(C;C)
Significance Untested
Disease Malignant melanoma
Variation info
Gene GABRD
CLNDBN Malignant melanoma
Reversed 0
HGVS NC_000001.11:g.2030014C>T
CLNSRC ClinVar
CLNACC RCV000060029.2,