Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
11 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.900 0.976 30 1996 2019
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
15 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 0.973 5 1997 2019
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
HEMOCHROMATOSIS, JUVENILE, DIGENIC
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
CUI: C2673517
Disease: PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
CUI: C2673518
Disease: PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0