rs199474664

Orientation

plus

Stabilized

plus

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

Make rs199474664(C;C)

Make rs199474664(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3250

is a	snp
is	mentioned by
dbSNP	rs199474664
dbSNP (classic)	rs199474664
ClinGen	rs199474664
ebi	rs199474664
HLI	rs199474664
Exac	rs199474664
Gnomad	rs199474664
Varsome	rs199474664
LitVar	rs199474664
Map	rs199474664
PheGenI	rs199474664
Biobank	rs199474664
1000 genomes	rs199474664
hgdp	rs199474664
ensembl	rs199474664
geneview	rs199474664
scholar	rs199474664
google	rs199474664
pharmgkb	rs199474664
gwascentral	rs199474664
openSNP	rs199474664
23andMe	rs199474664
SNPshot	rs199474664
SNPdbe	rs199474664
MSV3d	rs199474664
GWAS Ctlg	rs199474664

Max Magnitude

0

ClinVar
Risk	rs199474664(C;C)
Alt	rs199474664(C;C)
Reference	Rs199474664(T;T)
Significance	Pathogenic
Disease	Skeletal myopathy
Variation	info
Gene
CLNDBN	Skeletal myopathy, responsive to riboflavin
Reversed	0
HGVS	NC_012920.1:m.3250T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010216.2,