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rs857725

From SNPedia

Orientationplus
Stabilizedplus
Make rs857725(G;G)
Make rs857725(G;T)
Make rs857725(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158638145
GeneSPTA1
is asnp
is mentioned by
dbSNPrs857725
ebirs857725
HLIrs857725
Exacrs857725
Varsomers857725
Maprs857725
PheGenIrs857725
hapmaprs857725
1000 genomesrs857725
hgdprs857725
ensemblrs857725
gopubmedrs857725
geneviewrs857725
scholarrs857725
googlers857725
pharmgkbrs857725
gwascentralrs857725
openSNPrs857725
23andMers857725
23andMe allrs857725
SNP Nexus

SNPshotrs857725
SNPdbers857725
MSV3drs857725
GWAS Ctlgrs857725
GMAF0.2759
Max Magnitude
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene SPTA1
allele G
frequency 0.317
sift TOLERATED
HuRef 1103675236059
Disease Association Defects in SPTA1 are the cause of spherocytosis type III (SPH3) (MIM:270970). SPH3 is a disorder characterized by severe hemolytic anemia. Inheritance is autosomal recessive.



GET Evidence
SPTA1-K1693Q
aa_change Lys1693Gln
aa_change_short K1693Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.220501
summary