rs28357970

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs28357970(A;T)

Make rs28357970(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3796

Gene

ND1

is a	snp
is	mentioned by
dbSNP	rs28357970
dbSNP (classic)	rs28357970
ClinGen	rs28357970
ebi	rs28357970
HLI	rs28357970
Exac	rs28357970
Gnomad	rs28357970
Varsome	rs28357970
LitVar	rs28357970
Map	rs28357970
PheGenI	rs28357970
Biobank	rs28357970
1000 genomes	rs28357970
hgdp	rs28357970
ensembl	rs28357970
geneview	rs28357970
scholar	rs28357970
google	rs28357970
pharmgkb	rs28357970
gwascentral	rs28357970
openSNP	rs28357970
23andMe	rs28357970
SNPshot	rs28357970
SNPdbe	rs28357970
MSV3d	rs28357970
GWAS Ctlg	rs28357970

GMAF

0.006548

Max Magnitude

0

?	(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;G) rs28357970(T;T)
Alt	rs28357970(G;G) rs28357970(T;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,