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
RS750134026 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS750135817 IFT43 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly
RS750136163 DRC1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 21
RS750136202 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS750136284 RB1 Health Risk Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS750136965 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS750138232 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750138489 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS750138587 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS750141088 NSUN2 Health Risk Pathogenic —
RS750141316 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS750143580 ANK2 Health Risk Pathogenic —
RS750144413 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750146549 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS750146750 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750146811 FLCN Health Risk Pathogenic Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS750147338 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS750147672 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS750147891 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS750150415 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS750151209 CERKL Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS750151535 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS750152844 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS750153629 CEACAM16 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4B, Autosomal dominant nonsyndromic hearing loss 4B
RS750153731 COL7A1 Health Risk Likely pathogenic —
RS750154146 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS750155092 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS750156215 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, Hereditary coproporphyria
RS750156561 DNHD1 Health Risk Conflicting classifications of pathogenicity Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS750157176 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS750157767 CTSC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Haim-Munk syndrome
RS750158756 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS750159428 NEK1 Health Risk Pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS750159671 GTF3C1 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS750159744 CASQ2 Health Risk Conflicting classifications of pathogenicity Conduction disorder of the heart, Cardiovascular phenotype
RS750159862 ESCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ESCO2-related disorder
RS750161314 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750162087 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750162094 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS750162817 FZD5 Health Risk Pathogenic Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
RS750163692 DEPDC5 Health Risk Pathogenic —
RS750165040 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS750166500 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750166986 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750168062 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS750168369 ANO6 Health Risk Likely pathogenic SCOTT SYNDROME, SCOTT SYNDROME
RS750169840 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS750169914 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS750170007 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Retinal dystrophy
RS750170064 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN8A-related disorder
RS750170870 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS750172128 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS750173113 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53
RS750174107 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS750174170 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS750174638 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS750174880 APC Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS750174953 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS750175032 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Inborn genetic diseases
RS750176716 FKTN Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS750176752 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS750176911 AGRN Health Risk Likely pathogenic —
RS750177565 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS750178517 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS750178720 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS750179985 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS750180293 UROS Health Risk Likely pathogenic Cutaneous porphyria, Cutaneous porphyria
RS750180579 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750180668 CLCC1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 32, Retinal dystrophy
RS750181262 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS750182587 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS750183691 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS750183985 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS750184195 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS750185328 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS750185470 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS750185673 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS750185897 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS750185991 PLG Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary
RS750187574 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS750187920 OTOF Health Risk Pathogenic —
RS750188782 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, 7 conditions
RS750189082 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750189181 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS750189238 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS750190287 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS750190755 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS750190975 CNNM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750191719 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
RS750193844 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, MYL2-related disorder
RS750194090 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS750194822 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS750195040 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS750195683 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS750195772 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS750195919 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS75019736 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS750197808 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750198250 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS750199580 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
« Prev 1 ... 3198 3199 3200 3201 3202 3203 3204 ... 4509 Next »

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

Get Started Free →