{{Rsnum
|rsid=952094
|Gene=SPTA1
|Chromosome=1
|position=158614301
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.4504
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SPTA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 13.3 | 53.1 | 33.6
| HCB | 12.5 | 49.3 | 38.2
| JPT | 14.2 | 53.1 | 32.7
| YRI | 34.0 | 49.0 | 17.0
| ASW | 22.8 | 47.4 | 29.8
| CHB | 12.5 | 49.3 | 38.2
| CHD | 15.6 | 40.4 | 44.0
| GIH | 37.6 | 45.5 | 16.8
| LWK | 28.2 | 47.3 | 24.5
| MEX | 31.0 | 51.7 | 17.2
| MKK | 21.8 | 53.2 | 25.0
| TSI | 28.4 | 45.1 | 26.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=952094
|allele=G
|frequency=0.408
|uid=1103675236035
|type=heterozygous_SNP
|hugo=SPTA1
|ensembl gene=ENSG00000163554
|ensembl transcript=ENST00000368148
|sift=TOLERATED
|disease=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
|gene=SPTA1
|aa_change=Ile2265Thr
|aa_change_short=I2265T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs952094
|overall_frequency_n=4835
|overall_frequency_d=9438
|overall_frequency=0.512291
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=58
|n_articles=0
|n_articles_annotated=0
|nblosum100=3
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}