{{Rsnum
|rsid=7418956
|Gene=SPTA1
|Chromosome=1
|position=158662793
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.0124
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=SPTA1
}}{{omim
|desc=ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
|id=182860
|rsnum=7418956
|variant=0018
}}
{{ population diversity
| geno1 = (G;G)
| geno2 = (G;T)
| geno3 = 
| CEU | 100.0 | 0.0 | 0
| CHB | 100.0 | 0.0 | 0
| JPT | 100.0 | 0.0 | 0
| YRI | 83.3 | 16.7 | 0
}}{{ClinVar
|rsid=7418956
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=158662793
|CHROM=1
|GMAF=0.0124
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x050360000a05150516110100
|GENEINFO=SPTA1:6708
|GENE_NAME=SPTA1
|GENE_ID=6708
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.158662793G>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003126.2:c.2373C>A; 182860.0018
|CLNSIG=5
|CLNCUI=C1851741
|CLNDBN=Elliptocytosis 2
|Disease=Elliptocytosis 2
|CLNACC=RCV000013717.16
|Tags=PM;S3D;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9876; 0.0124
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1851741:130600
|COMMON=1
}}{{GET Evidence
|gene=SPTA1
|aa_change=Asp791Glu
|aa_change_short=D791E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7418956
|overall_frequency_n=144
|overall_frequency_d=9880
|overall_frequency=0.0145749
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|nblosum100=-2
|autoscore=3
|webscore=N
}}