{{Rsnum
|rsid=2482965
|Gene=SPTA1
|Chromosome=1
|position=158649938
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.003214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=SPTA1
}}{{Venter SNP
|rsid=2482965
|allele=C
|frequency=
|uid=1103675236089
|type=homozygous_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=Ser1163Ala
|aa_change_short=S1163A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2482965
|overall_frequency_n=9580
|overall_frequency_d=9634
|overall_frequency=0.994395
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=100
|n_articles=0
|n_articles_annotated=0
|nblosum100=-1
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}