{{Rsnum
|rsid=121918643
|Gene=SPTA1
|Chromosome=1
|position=158680641
|Orientation=minus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SPTA1
}}{{omim
|id=182860
|rsnum=121918643
|variant=0016
}}{{ClinVar
|rsid=121918643
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=158680641
|CHROM=1
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000016110100
|GENEINFO=SPTA1:6708
|GENE_NAME=SPTA1
|GENE_ID=6708
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.158680641A>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003126.2:c.620T>C; 182860.0016
|CLNSIG=5
|CLNCUI=C0520739; C1851741
|CLNDBN=Hereditary pyropoikilocytosis; Elliptocytosis 2
|Disease=Hereditary pyropoikilocytosis; Elliptocytosis 2
|CLNACC=RCV000013714.22; RCV000013715.21
|Tags=RV;PM;S3D;NSM;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:SNOMED_CT; MedGen:OMIM
|CLNDSDBID=C0520739:266140:9434008; C1851741:130600
|COMMON=1
}}