rs713993048

Orientation

minus

Stabilized

minus

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

Make rs713993048(A;A)

Make rs713993048(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

227702299

Gene

SLC19A3

is a	snp
is	mentioned by
dbSNP	rs713993048
dbSNP (classic)	rs713993048
ClinGen	rs713993048
ebi	rs713993048
HLI	rs713993048
Exac	rs713993048
Gnomad	rs713993048
Varsome	rs713993048
LitVar	rs713993048
Map	rs713993048
PheGenI	rs713993048
Biobank	rs713993048
1000 genomes	rs713993048
hgdp	rs713993048
ensembl	rs713993048
geneview	rs713993048
scholar	rs713993048
google	rs713993048
pharmgkb	rs713993048
gwascentral	rs713993048
openSNP	rs713993048
23andMe	rs713993048
SNPshot	rs713993048
SNPdbe	rs713993048
MSV3d	rs713993048
GWAS Ctlg	rs713993048

Max Magnitude

0

ClinVar
Risk	rs713993048(A;A)
Alt	rs713993048(A;A)
Reference	Rs713993048(C;C)
Significance	Pathogenic
Disease	Basal ganglia disease
Variation	info
Gene	SLC19A3
CLNDBN	Basal ganglia disease, biotin-responsive
Reversed	1
HGVS	NC_000002.11:g.228567015G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149551.5,