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rs864309514

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309514(A;A)
Make rs864309514(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position42929603
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs864309514
ebirs864309514
HLIrs864309514
Exacrs864309514
Varsomers864309514
Maprs864309514
PheGenIrs864309514
hapmaprs864309514
1000 genomesrs864309514
hgdprs864309514
ensemblrs864309514
gopubmedrs864309514
geneviewrs864309514
scholarrs864309514
googlers864309514
pharmgkbrs864309514
gwascentralrs864309514
openSNPrs864309514
23andMers864309514
23andMe allrs864309514
SNP Nexus

SNPshotrs864309514
SNPdbers864309514
MSV3drs864309514
GWAS Ctlgrs864309514
Max Magnitude0
ClinVar
Risk rs864309514(A;A)
Alt rs864309514(A;A)
Reference rs864309514(G;G)
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.43395274C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202596.1,