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rs17878459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) CYP2C19*2B homozygote
(C;G) carrier of one CYP2C19*2B allele
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome10
Position94775165
GeneCYP2C19
is asnp
is mentioned by
dbSNPrs17878459
ebirs17878459
HLIrs17878459
Exacrs17878459
Varsomers17878459
Maprs17878459
PheGenIrs17878459
hapmaprs17878459
1000 genomesrs17878459
hgdprs17878459
ensemblrs17878459
gopubmedrs17878459
geneviewrs17878459
scholarrs17878459
googlers17878459
pharmgkbrs17878459
gwascentralrs17878459
openSNPrs17878459
23andMers17878459
23andMe allrs17878459
SNP Nexus

SNPshotrs17878459
SNPdbers17878459
MSV3drs17878459
GWAS Ctlgrs17878459
GMAF0.01653
Max Magnitude0
The rs17878459(C) SNP defines the CYP2C19 allele known as CYP2C19*2B, or as E92D.[PMID 9732415]


GET Evidence
CYP2C19-E92D
aa_change Glu92Asp
aa_change_short E92D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.03125
summary



ClinVar
Risk rs17878459(A,C;A,C)
Alt rs17878459(A,C;A,C)
Reference rs17878459(G;G)
Significance Untested
Disease Malignant melanoma
Variation info
Gene CYP2C19
CLNDBN Malignant melanoma
Reversed 0
HGVS NC_000010.11:g.94775165G>A
CLNSRC ClinVar
CLNACC RCV000069096.2,