{{Rsnum
|rsid=857725
|Gene=SPTA1
|Chromosome=1
|position=158638145
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.2759
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=SPTA1
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 8.8 | 46.0 | 45.1
| HCB | 14.8 | 48.1 | 37.0
| JPT | 13.3 | 47.8 | 38.9
| YRI | 2.0 | 15.0 | 83.0
| ASW | 1.8 | 22.8 | 75.4
| CHB | 14.8 | 48.1 | 37.0
| CHD | 26.9 | 50.0 | 23.1
| GIH | 7.9 | 22.8 | 69.3
| LWK | 2.7 | 26.4 | 70.9
| MEX | 6.9 | 37.9 | 55.2
| MKK | 5.8 | 37.8 | 56.4
| TSI | 3.9 | 42.2 | 53.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=857725
|allele=G
|frequency=0.317
|uid=1103675236059
|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=Lys1693Gln
|aa_change_short=K1693Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs857725
|overall_frequency_n=2149
|overall_frequency_d=9746
|overall_frequency=0.220501
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=27
|n_articles=0
|n_articles_annotated=0
|nblosum100=-2
|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}}