{{Rsnum
|rsid=121918642
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SPTA1
|position=158685290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SPTA1
}}{{omim
|id=182860
|rsnum=121918642
|variant=0012
}}{{ClinVar
|rsid=121918642
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=158685290
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=SPTA1:6708
|GENE_NAME=SPTA1
|GENE_ID=6708
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.158685290G>A; NC_000001.11:g.158685290G>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003126.2:c.82C>T; 182860.0013; NM_003126.2:c.82C>A; 182860.0012
|CLNSIG=5
|CLNCUI=C1851741; C0520739,C1851741; C0520739
|CLNDBN=Elliptocytosis 2; Hereditary pyropoikilocytosis
|Disease=Elliptocytosis 2; Hereditary pyropoikilocytosis
|CLNACC=RCV000013710.23; RCV000013711.22; RCV000013708.16; RCV000013709.23
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1851741:130600; C0520739:266140:9434008
}}