{{Rsnum
|rsid=121918641
|Gene=SPTA1
|Chromosome=1
|position=158685289
|Orientation=minus
|GMAF=0.0
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=SPTA1
}}{{omim
|id=182860
|rsnum=121918641
|variant=0014
}}{{ClinVar
|rsid=121918641
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=158685289
|CHROM=1
|GMAF=0
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000016110100
|GENEINFO=SPTA1:6708
|GENE_NAME=SPTA1
|GENE_ID=6708
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.158685289C>A; NC_000001.11:g.158685289C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003126.2:c.83G>T; 182860.0011; NM_003126.2:c.83G>A; 182860.0008; 182860.0014
|CLNCUI=C1851741,C1851741; C0520739
|CLNDBN=Elliptocytosis 2; Hereditary pyropoikilocytosis
|Disease=Elliptocytosis 2; Hereditary pyropoikilocytosis
|CLNACC=RCV000013707.16; RCV000013712.21; RCV000013713.23
|Tags=RV;PM;S3D;NSM;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=1; 0
|CLNDSDB=MedGen:OMIM; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1851741:130600; C0520739:266140:9434008
|COMMON=0
|CLNSIG=5
}}