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rs863223305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223305(A;A)
Make rs863223305(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position158661410
GeneSPTA1
is asnp
is mentioned by
dbSNPrs863223305
dbSNP (classic)rs863223305
ClinGenrs863223305
ebirs863223305
HLIrs863223305
Exacrs863223305
Gnomadrs863223305
Varsomers863223305
LitVarrs863223305
Maprs863223305
PheGenIrs863223305
Biobankrs863223305
1000 genomesrs863223305
hgdprs863223305
ensemblrs863223305
geneviewrs863223305
scholarrs863223305
googlers863223305
pharmgkbrs863223305
gwascentralrs863223305
openSNPrs863223305
23andMers863223305
SNPshotrs863223305
SNPdbers863223305
MSV3drs863223305
GWAS Ctlgrs863223305
Max Magnitude0
ClinVar
Risk rs863223305(A;A)
Alt rs863223305(A;A)
Reference Rs863223305(G;G)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158631200C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013718.18,