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rs864309522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATC;ATC) 0 common in clinvar
Make rs864309522(-;-)
Make rs864309522(-;ATC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position42927212
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs864309522
ClinGenrs864309522
ebirs864309522
HLIrs864309522
Exacrs864309522
Varsomers864309522
Maprs864309522
PheGenIrs864309522
hapmaprs864309522
1000 genomesrs864309522
hgdprs864309522
ensemblrs864309522
gopubmedrs864309522
geneviewrs864309522
scholarrs864309522
googlers864309522
pharmgkbrs864309522
gwascentralrs864309522
openSNPrs864309522
23andMers864309522
23andMe allrs864309522
SNP Nexus

SNPshotrs864309522
SNPdbers864309522
MSV3drs864309522
GWAS Ctlgrs864309522
Max Magnitude0
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,