rs1057518749

Orientation

plus

Stabilized

plus

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

Make rs1057518749(-;TTAC)

Make rs1057518749(TTAC;TTAC)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

110761410

Gene

SLC25A46

is a	snp
is	mentioned by
dbSNP	rs1057518749
dbSNP (classic)	rs1057518749
ClinGen	rs1057518749
ebi	rs1057518749
HLI	rs1057518749
Exac	rs1057518749
Gnomad	rs1057518749
Varsome	rs1057518749
LitVar	rs1057518749
Map	rs1057518749
PheGenI	rs1057518749
Biobank	rs1057518749
1000 genomes	rs1057518749
hgdp	rs1057518749
ensembl	rs1057518749
geneview	rs1057518749
scholar	rs1057518749
google	rs1057518749
pharmgkb	rs1057518749
gwascentral	rs1057518749
openSNP	rs1057518749
23andMe	rs1057518749
SNPshot	rs1057518749
SNPdbe	rs1057518749
MSV3d	rs1057518749
GWAS Ctlg	rs1057518749

Max Magnitude

0

ClinVar
Risk	rs1057518749(ACTT;ACTT)
Alt	rs1057518749(ACTT;ACTT)
Reference	Rs1057518749(-;-)
Significance	Pathogenic
Disease	NEUROPATHY
Variation	info
Gene	SLC25A46
CLNDBN	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed	0
HGVS	NC_000005.9:g.110097107_110097110dupTTAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412554.1,