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
RS1342073189 RHOBTB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 64
RS1342073847 KCNA2 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS1342090676 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS13421046 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1342121466 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS1342142271 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS1342167975 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1342179740 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1342189589 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS1342190653 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1342196860 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1342204509 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1342217589 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1342235041 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1342235871 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1342269961 NAA10 Health Risk Conflicting classifications of pathogenicity Microphthalmia, syndromic 1
RS1342275430 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1342285831 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS1342290111 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1342319346 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1342321548 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1342330215 CARD9 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1342338851 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1342350922 LRRK1 Health Risk Pathogenic —
RS1342358367 EYS Health Risk Pathogenic —
RS1342372980 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS1342383599 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1342397080 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS1342399494 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Anophthalmia-microphthalmia syndrome
RS1342402816 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, See cases
RS1342425133 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1342428152 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1342428273 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS1342429887 CEP152 Health Risk Pathogenic/Likely pathogenic Seckel syndrome, Microcephaly 9
RS1342435095 TRPV6 Health Risk Pathogenic Hyperparathyroidism, transient neonatal
RS1342435908 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1342452396 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1342453275 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1342455699 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1342455785 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1342457304 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1342461504 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1342469676 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS1342474321 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1342475527 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 11
RS1342475885 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1342491406 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1342507012 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1342519012 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1342519105 CPAP Health Risk Likely pathogenic —
RS1342521503 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1342522878 COL7A1 Health Risk Pathogenic COL7A1-related disorder, 7 conditions
RS1342532406 RNASEH2B Health Risk Likely pathogenic —
RS1342553753 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1342555870 LIFR Health Risk Likely pathogenic —
RS1342580910 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1342590804 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1342598444 RBCK1 Health Risk Conflicting classifications of pathogenicity Polyglucosan body myopathy type 1, Inborn genetic diseases
RS1342609077 TCIRG1 Health Risk Pathogenic —
RS1342613419 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1342655330 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS1342698215 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1342715176 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1342716199 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1342719071 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1342761401 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1342765447 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1342775753 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1342785506 MYO15A Health Risk Pathogenic —
RS1342790456 NLRP3 Health Risk Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
RS1342793239 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1342803259 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1342817999 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS1342824953 USB1 Health Risk Likely pathogenic —
RS1342829770 FAM161A Health Risk Pathogenic —
RS1342864362 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS1342864499 STRC Health Risk Conflicting classifications of pathogenicity STRC-related disorder, STRC-related disorder
RS1342909456 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1342925232 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, COL7A1-related disorder
RS1342935033 KIAA0753 Health Risk Likely pathogenic —
RS1342950357 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1342955565 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1342959414 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS1342970033 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1342982789 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1343017824 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1343030430 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS1343039962 ARID2 Health Risk Pathogenic ARID2-related BAFopathy, ARID2-related BAFopathy
RS1343053876 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1343078144 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1343080275 ITPA Health Risk Conflicting classifications of pathogenicity Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy
RS1343084607 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1343088568 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1343088775 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1343104321 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1343120755 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1343123940 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1343138103 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1343138502 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy
RS1343140353 BRF1 Health Risk Conflicting classifications of pathogenicity 6 conditions, Inborn genetic diseases
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