rs1057517354

Orientation

plus

Stabilized

plus

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

Make rs1057517354(-;-)

Make rs1057517354(-;TCAA)

Make rs1057517354(TCAA;TCAA)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

107919249

Gene

DLD

is a	snp
is	mentioned by
dbSNP	rs1057517354
dbSNP (classic)	rs1057517354
ClinGen	rs1057517354
ebi	rs1057517354
HLI	rs1057517354
Exac	rs1057517354
Gnomad	rs1057517354
Varsome	rs1057517354
LitVar	rs1057517354
Map	rs1057517354
PheGenI	rs1057517354
Biobank	rs1057517354
1000 genomes	rs1057517354
hgdp	rs1057517354
ensembl	rs1057517354
geneview	rs1057517354
scholar	rs1057517354
google	rs1057517354
pharmgkb	rs1057517354
gwascentral	rs1057517354
openSNP	rs1057517354
23andMe	rs1057517354
SNPshot	rs1057517354
SNPdbe	rs1057517354
MSV3d	rs1057517354
GWAS Ctlg	rs1057517354

Max Magnitude

0

ClinVar
Risk	rs1057517354(-;-)
Alt	rs1057517354(-;-)
Reference	Rs1057517354(AATC;AATC)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	DLD
CLNDBN	Maple syrup urine disease, type 3
Reversed	0
HGVS	NC_000007.13:g.107559694_107559697delTCAA
CLNSRC
CLNACC	RCV000411445.1,