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
RS2146022798 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146022877 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146023425 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146023608 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS2146023956 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146024231 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146024554 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146024743 MCOLN1 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2146025414 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146025416 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146025908 GREB1L Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal dominant 80
RS2146026152 MCOLN1 Health Risk Likely pathogenic —
RS2146026596 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2146026614 SMARCB1 Health Risk Likely pathogenic Coffin-Siris syndrome, SMARCB1-related disorder
RS2146028500 LTBP4 Health Risk Likely pathogenic LTBP4-related disorder, LTBP4-related disorder
RS2146029786 LTBP4 Health Risk Pathogenic/Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS2146029958 DNMT3B Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 4, digenic
RS2146035624 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS2146036001 BMP7 Health Risk Pathogenic Ventricular septal defect 1, Ventricular septal defect 1
RS2146037598 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2146038092 TMPRSS6 Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2146042583 SMARCB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 15
RS2146042724 SMARCB1 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 1, Neoplasm
RS2146042856 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS2146045204 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, Atypical teratoid rhabdoid tumor
RS2146047336 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2146050043 PNPLA6 Health Risk Pathogenic —
RS2146051234 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2146057065 KDM4B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2146057214 TMPRSS6 Health Risk Likely pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS2146057228 CFAP410 Health Risk Pathogenic Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia
RS2146057730 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146058204 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146058319 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2146058345 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146059828 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146059921 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146060162 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146060468 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146060616 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2146060644 KDM4B Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2146061160 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146061284 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146061616 MC3R Health Risk Conflicting classifications of pathogenicity MC3R-related disorder, OBESITY (BMIQ9)
RS2146061709 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146062270 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146066005 RIPK4 Health Risk Likely pathogenic —
RS2146067261 CHEK2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2146067632 ACO2 Health Risk Pathogenic —
RS2146068388 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146069782 COL18A1 Health Risk Pathogenic —
RS2146070088 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146070522 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146070648 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146071079 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146071112 ADAMTS10 Health Risk Pathogenic —
RS2146071181 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2146073581 COL18A1 Health Risk Likely pathogenic —
RS2146074371 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146074437 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146074788 KDM4B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2146074811 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146075448 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146075609 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146076572 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146076947 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS2146079806 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS2146081689 COL18A1 Health Risk Pathogenic —
RS2146082310 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2146082887 ADAMTS10 Health Risk Pathogenic —
RS2146083122 COL18A1 Health Risk Pathogenic —
RS2146083140 COL18A1 Health Risk Pathogenic —
RS2146083176 COL18A1 Health Risk Pathogenic —
RS2146086468 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS2146088508 COL18A1 Health Risk Likely pathogenic —
RS2146090036 PNPLA6 Health Risk Pathogenic Laurence-Moon syndrome, Laurence-Moon syndrome
RS2146091582 PNPLA6 Health Risk Likely pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS2146092980 RTTN Health Risk Pathogenic —
RS2146093747 ADAMTS10 Health Risk Pathogenic —
RS2146094265 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146095454 CRYBB2 Health Risk Pathogenic/Likely pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS2146098171 DNMT3B Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
RS2146099465 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2146102535 ADAMTS10 Health Risk Pathogenic —
RS2146105309 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2146106285 ACO2 Health Risk Likely pathogenic —
RS2146107905 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2146108245 PNPLA6 Health Risk Pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS2146109671 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146110600 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2146116814 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146117027 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146119643 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146119824 COL18A1 Health Risk Pathogenic —
RS2146120226 ACO2 Health Risk Pathogenic —
RS2146120264 ACO2 Health Risk Pathogenic —
RS2146120283 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS2146121253 COL18A1 Health Risk Pathogenic —
RS2146123001 PNPLA6 Health Risk Pathogenic Hypogonadism with anosmia, Hypogonadism with anosmia
RS2146124353 ACO2 Health Risk Likely pathogenic —
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