rs864309522

Orientation

minus

Stabilized

minus

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

Make rs864309522(-;-)

Make rs864309522(-;ATC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

42927212

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs864309522
dbSNP (classic)	rs864309522
ClinGen	rs864309522
ebi	rs864309522
HLI	rs864309522
Exac	rs864309522
Gnomad	rs864309522
Varsome	rs864309522
LitVar	rs864309522
Map	rs864309522
PheGenI	rs864309522
Biobank	rs864309522
1000 genomes	rs864309522
hgdp	rs864309522
ensembl	rs864309522
geneview	rs864309522
scholar	rs864309522
google	rs864309522
pharmgkb	rs864309522
gwascentral	rs864309522
openSNP	rs864309522
23andMe	rs864309522
SNPshot	rs864309522
SNPdbe	rs864309522
MSV3d	rs864309522
GWAS Ctlg	rs864309522

Max Magnitude

0

ClinVar
Risk	rs864309522(-;-)
Alt	rs864309522(-;-)
Reference	Rs864309522(ATC;ATC)
Significance	Pathogenic
Disease	Stomatin-deficient cryohydrocytosis with neurologic defects
Variation	info
Gene	SLC2A1
CLNDBN	Stomatin-deficient cryohydrocytosis with neurologic defects
Reversed	1
HGVS	NC_000001.10:g.43392883_43392885delGAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202573.2,