{{Rsnum
|rsid=35948326
|Gene=SPTA1
|Chromosome=1
|position=158654738
|Orientation=minus
|GMAF=0.01653
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=SPTA1
}}{{omim
|id=182860
|rsnum=35948326
|variant=0009
}}

{{ClinVar
|rsid=35948326
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=158654738
|CHROM=1
|GMAF=0.0174
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050160000a05140516110100
|GENEINFO=SPTA1:6708
|GENE_NAME=SPTA1
|GENE_ID=6708
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.158654738G>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9835; 0.01653
|CLNACC=RCV000013699.22
|CLNDBN=Spherocytosis, type 3, autosomal recessive
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_003126.2:c.2909C>A; 182860.0009
|COMMON=1
|Disease=Spherocytosis
}}

{{GET Evidence
|gene=SPTA1
|aa_change=Ala970Asp
|aa_change_short=A970D
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs35948326
|overall_frequency_n=370
|overall_frequency_d=9916
|overall_frequency=0.0373134
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|in_omim=Y
|nblosum100=5
|autoscore=3
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.
}}

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