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
RS747820684 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS747821144 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747821285 TBC1D24 Health Risk Conflicting classifications of pathogenicity DOORS syndrome, Developmental and epileptic encephalopathy
RS747821323 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS747821417 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Inborn genetic diseases
RS747822127 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS747823528 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS747824231 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS747825809 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS747827435 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Hurler syndrome
RS747827699 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS747827911 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS747829176 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS747829749 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS747830413 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS747831061 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS747831095 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS747831153 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747832014 MICU1 Health Risk Conflicting classifications of pathogenicity Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS747832403 CR2 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS747832575 RP1L1 Health Risk Conflicting classifications of pathogenicity —
RS747832587 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS747832667 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Blepharophimosis - intellectual disability syndrome
RS747833393 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS747833630 PLCE1 Health Risk Conflicting classifications of pathogenicity —
RS747833963 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS747834463 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum variant type
RS747834704 SLC26A4 Health Risk Pathogenic/Likely pathogenic Ear malformation, Ear malformation
RS747835003 MERTK Health Risk Conflicting classifications of pathogenicity —
RS747835249 CEP290 Health Risk Pathogenic Retinal dystrophy, Joubert syndrome
RS747835893 LPIN1 Health Risk Pathogenic Acute rhabdomyolysis, Myoglobinuria
RS747837187 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747837246 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS747837301 LIFR Health Risk Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS747837371 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS747837583 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747837754 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS747837803 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS747837865 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS747838255 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS747838657 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS747840267 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, LMF1-related disorder
RS747840565 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS747841271 COL27A1 Health Risk Likely pathogenic —
RS747841902 SLC20A2 Health Risk Pathogenic —
RS747842085 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS747842199 FGFR1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Hypogonadotropic hypogonadism 2 with or without anosmia
RS747842444 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747842576 TNNC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
RS747843638 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS747843653 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS747844017 OTOF Health Risk Conflicting classifications of pathogenicity —
RS747844360 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS747844753 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS747845961 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS747846089 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS747846362 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS747846723 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS747847191 GJB2 Health Risk Pathogenic/Likely pathogenic 8 conditions, Nonsyndromic genetic hearing loss
RS747847543 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS747849923 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS747850974 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS747851434 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS747851551 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS747851909 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS747852149 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS747852608 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747853668 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS747853875 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS747854789 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS747854857 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS747855074 CNGA3 Health Risk Conflicting classifications of pathogenicity —
RS747855165 ROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS747855434 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Premature ovarian failure
RS747855862 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS747855991 CD19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747856236 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS747856982 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747856983 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS747857375 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS747857715 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS747858299 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS747860748 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747861275 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis
RS747861291 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS747862347 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS747862621 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS747862818 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747863168 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS747864095 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS747864683 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS747865323 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS747865842 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS747867083 UBR4 Health Risk Likely pathogenic Short stature, Short stature
RS747867148 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS747867726 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS747868017 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS747868845 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS747870569 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS747870802 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
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