rs1057518748

Orientation

plus

Stabilized

plus

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

Make rs1057518748(A;T)

Make rs1057518748(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

110761530

Gene

SLC25A46

is a	snp
is	mentioned by
dbSNP	rs1057518748
dbSNP (classic)	rs1057518748
ClinGen	rs1057518748
ebi	rs1057518748
HLI	rs1057518748
Exac	rs1057518748
Gnomad	rs1057518748
Varsome	rs1057518748
LitVar	rs1057518748
Map	rs1057518748
PheGenI	rs1057518748
Biobank	rs1057518748
1000 genomes	rs1057518748
hgdp	rs1057518748
ensembl	rs1057518748
geneview	rs1057518748
scholar	rs1057518748
google	rs1057518748
pharmgkb	rs1057518748
gwascentral	rs1057518748
openSNP	rs1057518748
23andMe	rs1057518748
SNPshot	rs1057518748
SNPdbe	rs1057518748
MSV3d	rs1057518748
GWAS Ctlg	rs1057518748

Max Magnitude

0

ClinVar
Risk	rs1057518748(T;T)
Alt	rs1057518748(T;T)
Reference	Rs1057518748(A;A)
Significance	Pathogenic
Disease	NEUROPATHY
Variation	info
Gene	SLC25A46
CLNDBN	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed	0
HGVS	NC_000005.9:g.110097230A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412520.1,