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rs28357970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28357970(A;T)
Make rs28357970(T;T)
ReferenceGRCh37 37.1/132
ChromosomeMT
Position3796
GeneMT-ND1
is asnp
is mentioned by
dbSNPrs28357970
ebirs28357970
HLIrs28357970
Exacrs28357970
Varsomers28357970
Maprs28357970
PheGenIrs28357970
hapmaprs28357970
1000 genomesrs28357970
hgdprs28357970
ensemblrs28357970
gopubmedrs28357970
geneviewrs28357970
scholarrs28357970
googlers28357970
pharmgkbrs28357970
gwascentralrs28357970
openSNPrs28357970
23andMers28357970
23andMe allrs28357970
SNP Nexus

SNPshotrs28357970
SNPdbers28357970
MSV3drs28357970
GWAS Ctlgrs28357970
GMAF0.006548
Max Magnitude0
? (A;A) (A;T) (T;T) 28
haplogroups


Haplogroup SNP
Alt. Name(s) A3796G
Source(s) [PMID 17099056]
Tree PhyloTree build 7
Clade
Haplogroup
No Clade Haplogroup
Ancestral
Haplogroup
Haplogroup H1a (mtDNA)
Derived
Haplogroup
Haplogroup H1b (mtDNA)
Ancestral Allele A
Derived Allele G



ClinVar
Risk rs28357970(G,T;G,T)
Alt rs28357970(G,T;G,T)
Reference rs28357970(A;A)
Significance Pathogenic
Disease Dystonia not provided
Variation info
Gene ND1
CLNDBN Dystonia, adult-onset not provided
Reversed 0
HGVS NC_012920.1:m.3796A>G; NC_012920.1:m.3796A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010382.4, RCV000224953.1,