SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS587778587 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS587778588 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587778594 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS587778596 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS587778597 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS587778598 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS587778601 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Myeloproliferative neoplasm
RS587778602 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS587778606 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS587778615 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587778616 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587778617 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS587778618 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587778620 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS587778627 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587778628 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell nevus syndrome 1
RS587778629 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Anophthalmia-microphthalmia syndrome
RS587778631 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS587778632 PTCH1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587778637 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587778640 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587778646 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS587778652 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS587778656 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS587778659 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B
RS587778661 SDHC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS587778677 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rabin-Pappas syndrome
RS587778680 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS587778681 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS587778683 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS587778684 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS587778685 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS587778686 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS587778695 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS587778696 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587778699 SUFU Health Risk Conflicting classifications of pathogenicity Microform holoprosencephaly, Hereditary cancer-predisposing syndrome
RS587778711 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS587778719 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS587778720 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS587778722 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS587778724 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS587778726 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS587778728 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778729 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778730 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778731 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778732 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS587778733 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778734 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778736 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778737 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778738 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS587778740 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS587778744 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS587778771 PRRT2 Health Risk Pathogenic/Likely pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia
RS587778773 FGFR3 Health Risk Pathogenic —
RS587778775 FGFR3 Health Risk Pathogenic Hypochondroplasia, Hypochondroplasia
RS587778777 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cardiovascular phenotype
RS587778778 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cardiovascular phenotype
RS587778779 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778780 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778781 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS587778782 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778784 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778785 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778786 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778787 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778788 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778789 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778790 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778791 KIF1A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory
RS587778792 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778794 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778795 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS587778796 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS587778797 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778798 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS587778799 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778800 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778802 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778803 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778804 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778805 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778806 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS587778807 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778808 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778809 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS587778810 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778812 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS587778815 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS587778816 FGFR3 Health Risk Pathogenic —
RS587778817 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS587778818 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS587778819 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS587778820 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS587778821 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS587778822 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS587778823 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS587778824 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587778825 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
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