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rs17849654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17849654(A;T)
Make rs17849654(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40808575
GeneSLC25A15, TPTE2P5
is asnp
is mentioned by
dbSNPrs17849654
dbSNP (old)rs17849654
ClinGenrs17849654
ebirs17849654
HLIrs17849654
Exacrs17849654
Gnomadrs17849654
Varsomers17849654
Maprs17849654
PheGenIrs17849654
Biobankrs17849654
1000 genomesrs17849654
hgdprs17849654
ensemblrs17849654
gopubmedrs17849654
geneviewrs17849654
scholarrs17849654
googlers17849654
pharmgkbrs17849654
gwascentralrs17849654
openSNPrs17849654
23andMers17849654
23andMe allrs17849654
SNPshotrs17849654
SNPdbers17849654
MSV3drs17849654
GWAS Ctlgrs17849654
GMAF0.3535
Max Magnitude0



ClinVar
Risk rs17849654(T;T)
Alt rs17849654(T;T)
Reference Rs17849654(A;A)
Significance Non-pathogenic
Disease not specified Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN not specified Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41382711A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000128071.2, RCV000273122.1,