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
RS2144020025 FOXC2 Health Risk Pathogenic —
RS2144020781 FOXC2 Health Risk Likely pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS2144025582 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144026030 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144026061 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144026301 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144026600 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144026762 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144027139 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144027729 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144035068 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144035234 LAMA1 Health Risk Likely pathogenic —
RS2144035251 LOXHD1 Health Risk Pathogenic —
RS2144036802 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2144041488 FKBP10 Health Risk Pathogenic Bruck syndrome 1, Bruck syndrome 1
RS2144041758 FKBP10 Health Risk Likely pathogenic Bruck syndrome 1, Bruck syndrome 1
RS2144041940 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2144044038 RAD51C Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2144044105 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2144044910 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2144045743 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2144046795 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS2144047886 LAMA1 Health Risk Likely pathogenic —
RS2144048741 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2144052934 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS2144059286 LOXHD1 Health Risk Pathogenic —
RS2144060112 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2144060132 LOXHD1 Health Risk Pathogenic —
RS2144060353 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2144060522 LOXHD1 Health Risk Pathogenic —
RS2144063401 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2144069621 FKBP10 Health Risk Pathogenic/Likely pathogenic Bruck syndrome 1, Bruck syndrome 1
RS2144072645 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2144074254 ZFHX3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2144077500 DSG1 Health Risk Pathogenic —
RS2144077639 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144080241 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2144080315 RGS9 Health Risk Likely pathogenic —
RS2144080858 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2144083830 LOXHD1 Health Risk Pathogenic —
RS2144087861 WNK4 Health Risk Likely pathogenic Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS2144091452 DSG1 Health Risk Pathogenic Palmoplantar keratoderma i, striate
RS2144092407 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2144093084 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144093507 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2144093610 DSG1 Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS2144094044 MYO5B Health Risk Pathogenic —
RS2144094082 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2144094448 BRIP1 Health Risk Likely pathogenic —
RS2144094505 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2144095211 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144098983 DSG1 Health Risk Pathogenic —
RS2144105381 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144107587 DSG1 Health Risk Likely pathogenic Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome
RS2144108674 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2144110924 DSG1 Health Risk Likely pathogenic Palmoplantar keratoderma i, striate
RS2144111205 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2144112404 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144112462 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2144112583 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144112699 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144112758 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2144113001 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2144113081 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2144113535 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144114210 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144115743 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2144115996 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS2144116207 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2144117079 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS2144119000 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2144126463 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2144130282 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144132609 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2144132870 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144133234 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2144133348 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2144134166 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144134187 DHX38 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2144134463 LOXHD1 Health Risk Pathogenic —
RS2144134780 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2144134877 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144134987 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2144135065 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144135103 LOXHD1 Health Risk Likely pathogenic —
RS2144138527 LOXHD1 Health Risk Pathogenic —
RS2144138894 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS2144138948 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS2144139391 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144140268 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS2144141886 POLG2 Health Risk Pathogenic —
RS2144142389 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS2144143132 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, BBS2-related disorder
RS2144143962 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2144145120 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144145429 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144147052 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2144150359 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144150424 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2144150824 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
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