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rs2482965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2482965(A;A)
Make rs2482965(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position158649938
GeneSPTA1
is asnp
is mentioned by
dbSNPrs2482965
ebirs2482965
HLIrs2482965
Exacrs2482965
Varsomers2482965
Maprs2482965
PheGenIrs2482965
hapmaprs2482965
1000 genomesrs2482965
hgdprs2482965
ensemblrs2482965
gopubmedrs2482965
geneviewrs2482965
scholarrs2482965
googlers2482965
pharmgkbrs2482965
gwascentralrs2482965
openSNPrs2482965
23andMers2482965
23andMe allrs2482965
SNP Nexus

SNPshotrs2482965
SNPdbers2482965
MSV3drs2482965
GWAS Ctlgrs2482965
GMAF0.003214
Max Magnitude0
Venter snp
Source plos
Gene SPTA1
allele C
frequency
sift TOLERATED
HuRef 1103675236089
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-S1163A
aa_change Ser1163Ala
aa_change_short S1163A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.994395
summary