rs869312808

Orientation

plus

Stabilized

plus

Make rs869312808(A;A)

Make rs869312808(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

39467554

Gene

LIAS

is a	snp
is	mentioned by
dbSNP	rs869312808
dbSNP (classic)	rs869312808
ClinGen	rs869312808
ebi	rs869312808
HLI	rs869312808
Exac	rs869312808
Gnomad	rs869312808
Varsome	rs869312808
LitVar	rs869312808
Map	rs869312808
PheGenI	rs869312808
Biobank	rs869312808
1000 genomes	rs869312808
hgdp	rs869312808
ensembl	rs869312808
geneview	rs869312808
scholar	rs869312808
google	rs869312808
pharmgkb	rs869312808
gwascentral	rs869312808
openSNP	rs869312808
23andMe	rs869312808
SNPshot	rs869312808
SNPdbe	rs869312808
MSV3d	rs869312808
GWAS Ctlg	rs869312808

Max Magnitude

0

ClinVar
Risk	rs869312808(A;A)
Alt	rs869312808(A;A)
Reference	Rs869312808(T;T)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase lipoic acid synthetase deficiency
Variation	info
Gene	LIAS
CLNDBN	Pyruvate dehydrogenase lipoic acid synthetase deficiency
Reversed	0
HGVS	NC_000004.11:g.39469174T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210212.1,