rs397515740

Orientation

plus

Stabilized

plus

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

Make rs397515740(C;C)

Make rs397515740(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154413504

Gene	DNASE1L1, TAZ

is a	snp
is	mentioned by
dbSNP	rs397515740
dbSNP (classic)	rs397515740
ClinGen	rs397515740
ebi	rs397515740
HLI	rs397515740
Exac	rs397515740
Gnomad	rs397515740
Varsome	rs397515740
LitVar	rs397515740
Map	rs397515740
PheGenI	rs397515740
Biobank	rs397515740
1000 genomes	rs397515740
hgdp	rs397515740
ensembl	rs397515740
geneview	rs397515740
scholar	rs397515740
google	rs397515740
pharmgkb	rs397515740
gwascentral	rs397515740
openSNP	rs397515740
23andMe	rs397515740
SNPshot	rs397515740
SNPdbe	rs397515740
MSV3d	rs397515740
GWAS Ctlg	rs397515740

Max Magnitude

0

ClinVar
Risk	rs397515740(C;C)
Alt	rs397515740(C;C)
Reference	Rs397515740(T;T)
Significance	Probable-Pathogenic
Disease	3-Methylglutaconic aciduria type 2
Variation	info
Gene	TAZ DNASE1L1
CLNDBN	3-Methylglutaconic aciduria type 2
Reversed	0
HGVS	NC_000023.10:g.153641841T>C
CLNSRC	ClinVar
CLNACC	RCV000035089.2,