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
RS761043122 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS761043713 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS761044764 GFI1B Health Risk Pathogenic Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS761045773 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS761045901 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS761046219 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases
RS761046498 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS761047725 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Capillary malformation-arteriovenous malformation 2
RS761047751 FREM2 Health Risk Pathogenic —
RS761048204 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Inborn genetic diseases
RS761048859 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS761049544 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS761050391 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761051062 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS761051181 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS761051371 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761052211 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS761052528 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS761053170 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761053549 SALL1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 1, Congenital anomaly of kidney and urinary tract
RS761054054 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761054207 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS761054714 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS761055346 EIF2B2 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS761056344 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy
RS761057565 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS761060634 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 5A
RS761061042 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761061379 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS761061399 TBC1D23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761061866 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS761062389 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS761062440 UNC80 Health Risk Likely pathogenic UNC80-related disorder, UNC80-related disorder
RS761062776 CNNM4 Health Risk Pathogenic —
RS761063067 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS761063520 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS761063842 ADGRV1 Health Risk Likely pathogenic —
RS761063847 ALDOB Health Risk Pathogenic Hereditary fructosuria, Inborn genetic diseases
RS761064507 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS761064906 PUS1 Health Risk Conflicting classifications of pathogenicity —
RS761064915 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS761066341 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS761066631 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS761067098 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS761067911 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS761068277 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Lamellar ichthyosis
RS76106850 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS761068783 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS761069193 BCAS3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS761069656 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS761069955 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS761070664 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS761070985 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS761071115 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS761071372 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS761072017 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS761072755 SEPSECS Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS761072761 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS761074497 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS761074887 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS761075303 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS761075492 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS761075511 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS761075541 C3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761076607 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS761076987 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS761077237 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS761077330 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761077963 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761079177 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS761079636 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS761079751 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS761080016 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS761080544 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS761080545 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS761081587 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS761082272 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS761083620 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS761083981 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS761084315 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS761084716 ADAMTSL4 Health Risk Pathogenic —
RS761084829 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS761085263 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS761086584 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS761087054 ESPN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome
RS761087545 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS761087968 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS761089024 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS761089162 FANCD2;FANCD2OS Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS761089886 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 8
RS761090665 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS761090705 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS761090896 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS761092578 GPSM2 Health Risk Pathogenic/Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS761092656 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS761092893 LRRC56 Health Risk Pathogenic —
RS761093701 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS761094613 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS761094724 GLRA2 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS761095604 IFT172 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
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