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
RS2146126679 COL18A1 Health Risk Pathogenic —
RS2146126872 SLC19A1;COL18A1 Health Risk Pathogenic —
RS2146126966 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS2146127288 ACO2 Health Risk Likely pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS2146127377 ACO2 Health Risk Conflicting classifications of pathogenicity Isolated macular dystrophy, Infantile cerebellar-retinal degeneration
RS2146127577 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS2146127594 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS2146127824 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146127847 HNF4A Health Risk Pathogenic Hyperinsulinism due to HNF1A deficiency, Hyperinsulinism due to HNF1A deficiency
RS2146127849 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS2146127862 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2146128464 ACO2 Health Risk Pathogenic —
RS2146128577 ACO2 Health Risk Pathogenic —
RS2146128620 ACO2 Health Risk Likely pathogenic —
RS2146130891 ACO2 Health Risk Likely pathogenic —
RS2146130979 SCARF2 Health Risk Pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS2146130989 ACO2 Health Risk Pathogenic —
RS2146131000 ACO2 Health Risk Pathogenic —
RS2146131503 SCARF2 Health Risk Pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS2146131738 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146131822 TCF3 Health Risk Pathogenic Agammaglobulinemia 8b, autosomal recessive
RS2146133110 SCARF2 Health Risk Pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS2146136449 ACO2 Health Risk Pathogenic —
RS2146137671 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146138978 ACO2 Health Risk Likely pathogenic —
RS2146138982 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS2146139034 ACO2 Health Risk Pathogenic Optic atrophy 9, Optic atrophy 9
RS2146139087 ACO2 Health Risk Pathogenic —
RS2146139092 ACO2 Health Risk Pathogenic —
RS2146140052 ACO2;LOC130067544 Health Risk Likely pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS2146141304 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2146141332 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2146141455 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2146144018 SLC25A1 Health Risk Likely pathogenic —
RS2146144310 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2146144344 ACO2 Health Risk Pathogenic —
RS2146144384 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146144769 TCF4 Health Risk Likely pathogenic —
RS2146146010 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146146055 TCF3 Health Risk Likely pathogenic —
RS2146146556 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2146146624 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146147030 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146147510 CHEK2 Health Risk Likely pathogenic —
RS2146147977 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2146148231 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146148271 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2146149228 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2146149676 ACO2 Health Risk Pathogenic —
RS2146150691 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2146151890 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Breast and/or ovarian cancer
RS2146152456 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146152668 CHEK2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2146153089 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146153237 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146153708 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2146153920 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2146153953 RTEL1 Health Risk Pathogenic See cases, See cases
RS2146154211 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146154644 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146155398 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146155758 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146155911 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146156469 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146156838 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146157133 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146157952 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2146160463 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146160649 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146178007 GNAS Health Risk Pathogenic —
RS2146178281 GINS1 Health Risk Pathogenic Combined immunodeficiency due to GINS1 deficiency, Combined immunodeficiency due to GINS1 deficiency
RS2146178462 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146178601 GNAS Health Risk Pathogenic/Likely pathogenic —
RS2146178784 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism type I A, Inborn genetic diseases
RS2146178875 GNAS Health Risk Pathogenic/Likely pathogenic —
RS2146178942 GNAS Health Risk Pathogenic —
RS2146179050 GNAS Health Risk Likely pathogenic GNAS-related disorder, Uterine corpus endometrial carcinoma
RS2146182069 GNAS Health Risk Likely pathogenic —
RS2146182293 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146182909 GNAS Health Risk Pathogenic —
RS2146183586 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146184314 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146184726 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1C
RS2146185615 GNAS Health Risk Pathogenic —
RS2146185827 GNAS Health Risk Pathogenic —
RS2146187014 MYO18B Health Risk Likely pathogenic —
RS2146189762 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146192021 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146193795 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146197831 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2146200643 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2146204977 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS2146208184 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2146208325 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146208770 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type I A, GNAS-related disorder
RS2146209197 GNAS Health Risk Pathogenic —
RS2146209517 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146209821 GNAS Health Risk Pathogenic/Likely pathogenic —
RS2146210053 GNAS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2146210724 GNAS Health Risk Conflicting classifications of pathogenicity —
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