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
RS1946487230 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1946487548 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1946488462 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1946491613 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1946491661 CDKN1B Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, CDKN1B-related disorder
RS1946492962 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1946493725 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1946496773 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Ovarian cancer
RS1946497104 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1946498276 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1946498768 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1946499901 MRE11 Health Risk Pathogenic/Likely pathogenic Breast carcinoma, Ataxia-telangiectasia-like disorder 1
RS1946508324 DPAGT1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1946512581 DPAGT1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1946513256 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1946523602 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1946583076 GP9 Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard Soulier syndrome
RS1946586230 GP9 Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1946597477 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1946605498 TECTA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS1946656233 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS1946660318 TECTA Health Risk Pathogenic —
RS1946669738 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1946676671 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1946724126 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1946727506 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1946778092 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1946780929 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1946792293 DDX11 Health Risk Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS1946857788 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1946956410 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1947001391 GUCY2C Health Risk Pathogenic —
RS1947002584 GUCY2C Health Risk Pathogenic Congenital diarrhea 6, Congenital diarrhea 6
RS1947056659 TECTA Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS1947057220 TECTA Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS1947102571 MPDZ Health Risk Pathogenic —
RS1947104738 MPDZ Health Risk Pathogenic —
RS1947157785 ETV6 Health Risk Likely pathogenic —
RS1947184803 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B
RS1947244829 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1947265336 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS1947274911 PCDH15 Health Risk Pathogenic —
RS1947296046 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1947324005 AQP2 Health Risk Pathogenic —
RS1947324508 AQP2 Health Risk Pathogenic —
RS1947335024 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2
RS1947349400 AQP2 Health Risk Pathogenic —
RS1947358808 KCNA1 Health Risk Likely pathogenic Inborn genetic diseases, Episodic ataxia type 1
RS1947361964 AQP2 Health Risk Likely pathogenic —
RS1947362334 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1947522752 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1947531929 NECAP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 21
RS1947971579 SC5D Health Risk Pathogenic Lathosterolosis, Lathosterolosis
RS1948089932 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1948102480 RACGAP1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS1948104184 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1948107534 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1948141206 CEACAM16 Health Risk Conflicting classifications of pathogenicity —
RS1948142385 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS1948212796 FOLR1 Health Risk Pathogenic —
RS1948231142 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS1948252170 CASP8 Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS1948278092 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1948326461 CHD4 Health Risk Pathogenic/Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948326612 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948327010 CHD4 Health Risk Pathogenic/Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948331954 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS1948335884 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS1948336129 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948388503 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS1948391148 CD3G Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1948408994 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1948418139 CD3G Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1948418309 CHD4 Health Risk Pathogenic —
RS1948434432 CHD4 Health Risk Conflicting classifications of pathogenicity Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948436363 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948453702 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1948478259 FGD4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1948507281 GUCY2C Health Risk Likely pathogenic —
RS1948507892 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1948513922 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1948519774 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1948522736 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1948522792 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1948522929 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1948523741 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1948532502 CHD4 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS1948533760 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1948533963 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1948534023 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1948534047 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary retinoblastoma
RS1948534542 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1948565964 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1948569124 GRIN2B Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1948581537 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1948582304 CAPN1 Health Risk Pathogenic —
RS1948582433 CAPN1 Health Risk Pathogenic —
RS1948582497 CAPN1 Health Risk Pathogenic —
RS1948588956 SCNN1A Health Risk Pathogenic —
RS1948590484 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
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