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rs754614154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs754614154(C;C)
Make rs754614154(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position158636763
GeneSPTA1
is asnp
is mentioned by
dbSNPrs754614154
dbSNP (classic)rs754614154
ClinGenrs754614154
ebirs754614154
HLIrs754614154
Exacrs754614154
Gnomadrs754614154
Varsomers754614154
LitVarrs754614154
Maprs754614154
PheGenIrs754614154
Biobankrs754614154
1000 genomesrs754614154
hgdprs754614154
ensemblrs754614154
geneviewrs754614154
scholarrs754614154
googlers754614154
pharmgkbrs754614154
gwascentralrs754614154
openSNPrs754614154
23andMers754614154
SNPshotrs754614154
SNPdbers754614154
MSV3drs754614154
GWAS Ctlgrs754614154
Max Magnitude0
ClinVar
Risk rs754614154(C;C) rs754614154(G;G)
Alt rs754614154(C;C) rs754614154(G;G)
Reference Rs754614154(T;T)
Significance Pathogenic
Disease Spherocytosis type 3
Variation info
Gene SPTA1
CLNDBN Spherocytosis type 3
Reversed 0
HGVS NC_000001.10:g.158606553T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013723.22,