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
RS2037930387 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037949810 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037954707 GNAO1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2037985341 CIC Health Risk Pathogenic —
RS2037994433 PTPN11 Health Risk Likely pathogenic LEOPARD syndrome 1, LEOPARD syndrome 1
RS2038012556 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2038036994 NQO1 Health Risk Likely pathogenic —
RS2038071036 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS2038074697 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS2038103354 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2038105603 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2038105901 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS2038125958 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2038127324 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2038154558 PTPN11 Health Risk Pathogenic/Likely pathogenic RASopathy, Noonan syndrome 1
RS2038170208 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038182629 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038190712 LOXHD1 Health Risk Pathogenic/Likely pathogenic —
RS2038193754 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038195054 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038196341 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS2038202226 DNMT1 Health Risk Likely pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS2038212764 LOXHD1 Health Risk Pathogenic —
RS2038226312 LOXHD1 Health Risk Pathogenic —
RS2038231425 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038232008 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038232781 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2038232911 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2038244158 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS2038250738 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS2038316193 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2038317129 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2038332961 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2038335853 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2038338161 LOXHD1 Health Risk Pathogenic —
RS2038340977 CEP290 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 10, Bardet-Biedl syndrome 14
RS2038343394 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2038350104 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2038398296 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038398856 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2038399117 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS2038407808 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038407878 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2038408351 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038409656 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2038409874 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2038416963 DNMT1 Health Risk Likely pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS2038438402 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS2038438612 FTL Health Risk Pathogenic/Likely pathogenic Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS2038442836 PTPN11 Health Risk Pathogenic/Likely pathogenic RASopathy, Noonan syndrome 1
RS2038452898 TRAPPC10 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Neurodevelopmental disorder with microcephaly
RS2038460623 KCNJ1 Health Risk Pathogenic —
RS2038469040 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038470723 ABCC2 Health Risk Pathogenic —
RS2038474519 ABCC2 Health Risk Pathogenic —
RS2038474528 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2038478071 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2038478110 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038491713 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2038495632 LOXHD1 Health Risk Likely pathogenic —
RS2038495764 ATP8A2 Health Risk Likely pathogenic —
RS2038511531 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038512511 KIAA0586 Health Risk Pathogenic —
RS2038517512 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038519770 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038522097 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038538013 PAFAH1B3 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2038542991 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2038565518 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2038566039 USH2A Health Risk Likely pathogenic —
RS2038566220 USH2A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS2038566435 USH2A Health Risk Pathogenic —
RS2038568675 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2038569132 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2038569690 USH2A Health Risk Likely pathogenic —
RS2038571383 ITCH Health Risk Likely pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2038594225 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2038606313 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2038616626 LOXHD1 Health Risk Likely pathogenic —
RS2038617610 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2038617702 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038618125 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038628210 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038641578 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038648611 POLR3B Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS2038649365 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038653435 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2038664064 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2038665417 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2038667190 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038668800 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2038674067 CLCN7 Health Risk Likely pathogenic —
RS2038674221 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038680566 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS2038684134 SLC24A5 Health Risk Pathogenic —
RS2038684395 SLC24A5 Health Risk Likely pathogenic Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
RS2038687584 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038690553 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2038700262 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2038701489 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
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