Build150427-0620.2 15048 OMIM 613609.0001 dbSNP 1800562 NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) c.845G>A (p.Cys282Tyr) previous GRCh37 6 26093141 26093141 GCF_000001405.25 A G current GRCh38 6 26092913 26092913 GCF_000001405.26 A G GO-ESP 0.04752 A 1000GenomesMinorAlleleFrequency 0.01260 A single nucleotide variant MedGen CN034317 OMIM 612635 Microvascular complications of diabetes 7 MedGen C0392514 OMIM 235200 Hemochromatosis type 1 Porphyria cutanea tarda, susceptibility to Porphyria variegata, susceptibility to Hemochromatosis, juvenile, digenic Alzheimer disease, susceptibility to MedGen C3280096 OMIM 614193 Transferrin serum level quantitative trait locus 2 MedGen CN169374 not specified SCV000020162 SCV000020163 SCV000020164 SCV000020165 SCV000020166 SCV000020167 SCV000020168 SCV000151394 SCV000206975 SCV000219175 SCV000221190 RCV000000019 RCV000000020 RCV000000021 RCV000000022 RCV000000023 RCV000000024 RCV000000025 RCV000117222 Conflicting interpretations of pathogenicity, association, risk factor 2014/12/05 00:00 classified by multiple submitters HFE 06 00000000000026093141 HFE 3077 + submitted