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
RS1572746634 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1572746651 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1572746998 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1572747149 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1572747278 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colon cancer
RS1572747685 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1572747837 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1572748210 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1572749758 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1572750549 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1572750569 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1572753822 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1572764698 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1572764737 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1572770217 LPIN1 Health Risk Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent
RS1572776344 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1572785471 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1572785480 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS1572795820 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1572796197 PNPT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70
RS1572799173 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS1572800245 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS1572801523 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1572802096 APOB Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1572804699 SLC3A1 Health Risk Likely pathogenic Cystine urolithiasis, Cystine urolithiasis
RS1572806589 FBXO11 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Neurodevelopmental disorder
RS1572813576 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1572817589 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS1572820988 FBXO11 Health Risk Likely pathogenic Obesity, Obesity
RS1572825920 PCARE Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 54
RS1572826522 PCARE Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1572827477 PCARE Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 54
RS1572829010 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS1572829514 PCARE Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1572829866 PCARE Health Risk Pathogenic Cone-rod dystrophy, PCARE-related retinopathy
RS1572830219 SOS1 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS1572830513 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1572830693 SOS1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS1572834021 PNPT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1572849873 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1572850869 EFEMP1 Health Risk Pathogenic 14 conditions, Cutis laxa
RS1572874955 LHCGR Health Risk Likely pathogenic Leydig cell agenesis, Leydig cell agenesis
RS1572875669 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1572879569 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1572894174 LRPPRC Health Risk Pathogenic —
RS1572894465 LRPPRC Health Risk Likely pathogenic —
RS1572897958 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS1572903776 NBAS Health Risk Likely pathogenic —
RS1572907400 TET3 Health Risk Pathogenic/Likely pathogenic Beck-Fahrner syndrome, TET3 deficiency
RS1572907595 TET3 Health Risk Pathogenic/Likely pathogenic Beck-Fahrner syndrome, TET3 deficiency
RS1572911143 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572914269 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572914641 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572919267 ATP6V1B1 Health Risk Pathogenic Nephrocalcinosis, Polydactyly
RS1572922954 ATP6V1B1 Health Risk Likely pathogenic —
RS1572924733 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1572931008 LPIN1 Health Risk Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent
RS1572931120 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572931360 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572932377 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572932845 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572933082 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572933385 ALMS1 Health Risk Pathogenic —
RS1572934951 ALMS1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1572935708 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572936092 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572936360 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572936972 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572937636 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1572938044 SLC1A4 Health Risk Pathogenic —
RS1572939837 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572950925 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1572952530 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1572961263 TTC7A Health Risk Conflicting classifications of pathogenicity Common variable immunodeficiency, Multiple gastrointestinal atresias
RS1572967548 BCL11A Health Risk Pathogenic —
RS1572969491 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1572970207 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1572970628 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1572971860 SLC1A4 Health Risk Likely pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1572994572 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1572996700 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Developmental regression, Global developmental delay
RS1573000963 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1573000972 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1573008071 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS1573009747 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573010519 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Cognitive impairment, Leukoencephalopathy
RS1573020369 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573026975 CFH Health Risk Pathogenic, low penetrance Hemolytic uremic syndrome, atypical
RS1573028017 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1573030204 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1573052379 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1573053394 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1573053412 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1573060017 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS1573068097 TTC7A Health Risk Likely pathogenic —
RS1573068995 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573072864 SPAST Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1573076111 CFH Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS1573084845 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1573087200 CFH Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical
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