{{Rsnum
|rsid=121918640
|Gene=SPTA1
|Chromosome=1
|position=158685251
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SPTA1
}}{{omim
|id=182860
|rsnum=121918640
|variant=0010
}}{{ClinVar
|rsid=121918640
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=158685251
|CHROM=1
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000b05040016110100
|GENEINFO=SPTA1:6708
|GENE_NAME=SPTA1
|GENE_ID=6708
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.158685251G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003126.2:c.121C>T; 182860.0010
|CLNSIG=5
|CLNCUI=C1851741
|CLNDBN=Elliptocytosis 2
|Disease=Elliptocytosis 2
|CLNACC=RCV000013706.22
|Tags=RV;PM;S3D;NSM;REF;SYN;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1851741:130600
|COMMON=0
}}