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
RS543241831 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS543242420 FTL Health Risk Conflicting classifications of pathogenicity Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS543247133 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543247171 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS543250835 PLK4 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 2, PLK4-related disorder
RS543253703 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS543254581 CDHR1 Health Risk Conflicting classifications of pathogenicity —
RS543255240 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS543272850 TK2 Health Risk Pathogenic —
RS543275318 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS543277216 CYB5R3 Health Risk Pathogenic/Likely pathogenic Deficiency of cytochrome-b5 reductase, CYB5R3-related disorder
RS543281875 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS543285265 SLC25A22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS543285355 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS543290126 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS543291626 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, UV-sensitive syndrome 2
RS543300039 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS543305514 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS543313284 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS543313859 KCTD17 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 26, Inborn genetic diseases
RS543318580 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS543320028 NTRK1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS543326525 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS543329958 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS543339423 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS543339576 GABRG2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS543341299 GJB4 Health Risk Conflicting classifications of pathogenicity —
RS543344637 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS543345616 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS543346172 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS543348635 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS543350920 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian serous cystadenocarcinoma
RS543353436 REN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial juvenile hyperuricemic nephropathy type 2
RS543369426 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Sarcoma
RS543370102 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS543374987 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS543376073 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
RS543376293 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Multiple endocrine neoplasia
RS543387071 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS543390575 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543422533 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS543422544 AFG3L2 Health Risk Pathogenic Spastic ataxia 5, Spastic ataxia 5
RS543423053 PAX2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS543434883 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS543436497 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS543440046 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS543441756 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS543447540 GLI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GLI3-related disorder
RS543458339 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS543467648 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS543477138 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KCNQ2-related disorder
RS543478618 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS543482000 GFM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543486699 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS543493041 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS543509332 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa
RS543512307 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, SLC22A12-related disorder
RS543521135 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS543524943 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS543525711 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Inborn genetic diseases
RS543533126 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS543534409 ASTN2;TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 11, Sarcotubular myopathy
RS543542721 TFG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 57, Hereditary motor and sensory neuropathy
RS543547663 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 9
RS543553606 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS543563990 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS543570530 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS543572030 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS543574061 KRT5 Health Risk Conflicting classifications of pathogenicity —
RS543585518 CSF1R Health Risk Pathogenic —
RS543585784 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS543597396 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS543602231 RSPH1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Congenital portosystemic shunt
RS543606863 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS543611480 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS543614309 HYLS1;PUS3 Health Risk Conflicting classifications of pathogenicity Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS543634397 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS543636524 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS543644944 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS543645962 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases
RS543646763 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS543650388 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS543659673 GJB6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A
RS543669116 TMPRSS15 Health Risk Likely pathogenic —
RS543669472 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS543673731 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543676323 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS543677594 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS543691110 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS543697946 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Abnormality of metabolism/homeostasis
RS543698823 PROM1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PROM1-related disorder
RS543702763 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS543703718 PRPH2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Stargardt disease
RS543710228 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS543710675 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS543712958 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS543717406 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS543729483 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS543734103 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS543735501 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
« Prev 1 ... 2908 2909 2910 2911 2912 2913 2914 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →