{{Rsnum
|rsid=45562031
|Gene=SLC4A1
|Chromosome=17
|position=44261625
|Orientation=plus
|GMAF=0.007805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLC4A1
}}{{omim
|id=109270
|rsnum=45562031
|variant=0004
}}

{{ClinVar
|rsid=45562031
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=42338993
|CHROM=17
|GMAF=0.0078
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050260000000040516110100
|GENEINFO=SLC4A1:6521
|GENE_NAME=SLC4A1
|GENE_ID=6521
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.42338993C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9922; 0.007805
|CLNACC=RCV000019333.26
|CLNDBN=Spherocytosis type 4
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2675212:612653:822
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=109270.0004
|COMMON=1
|Disease=Spherocytosis type 4
}}

{{GET Evidence
|gene=SLC4A1
|aa_change=Glu40Lys
|aa_change_short=E40K
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs45562031
|overall_frequency_n=127
|overall_frequency_d=10758
|overall_frequency=0.0118052
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.061
|genetests_testable=Y
|nblosum100=0
|autoscore=3
|webscore=N
|n_web_uneval=5
|variant_evidence=1
|clinical_importance=0
|summary_short=Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}