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rs2853508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0
(G;G) 0
ReferenceGRCh38.p2 38.2/144
ChromosomeMT
Position15326
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs2853508
ebirs2853508
HLIrs2853508
Exacrs2853508
Varsomers2853508
Maprs2853508
PheGenIrs2853508
hapmaprs2853508
1000 genomesrs2853508
hgdprs2853508
ensemblrs2853508
gopubmedrs2853508
geneviewrs2853508
scholarrs2853508
googlers2853508
pharmgkbrs2853508
gwascentralrs2853508
openSNPrs2853508
23andMers2853508
23andMe allrs2853508
SNP Nexus

SNPshotrs2853508
SNPdbers2853508
MSV3drs2853508
GWAS Ctlgrs2853508
GMAF0.006542
Max Magnitude0
? (A;A) (A;G) (G;G) 28
haplogroups


Haplogroup SNP
Alt. Name(s) G15326A
Source(s) Behar 2008b
23andMe
Tree PhyloTree build 7
Clade
Haplogroup
No Clade Haplogroup
Ancestral
Haplogroup
Haplogroup H2a2 (mtDNA)
Derived
Haplogroup
Haplogroup H2a2a (mtDNA)
Ancestral Allele G
Derived Allele A



GET Evidence
AF391805-S164G
aa_change Ser164Gly
aa_change_short S164G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs2853508(G;G)
Alt rs2853508(G;G)
Reference rs2853508(A;A)
Significance Probable-Pathogenic
Disease Familial cancer of breast
Variation info
Gene CYTB
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_012920.1:m.15326A>G
CLNSRC ClinVar
CLNACC RCV000128807.1,