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
RS2521404010 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Ovarian serous cystadenocarcinoma
RS2521405619 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521409119 SLC9A6 Health Risk Pathogenic —
RS2521410230 PLS3 Health Risk Pathogenic —
RS2521410518 PLS3 Health Risk Pathogenic —
RS2521414161 STAG2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2521414626 PLS3 Health Risk Pathogenic —
RS2521419194 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521424016 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521424312 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521425675 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2521432169 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521440674 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521440743 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521440800 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521441229 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521441733 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521446197 HCFC1 Health Risk Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblX
RS2521450288 PUM1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521451788 FMR1 Health Risk Likely pathogenic Fragile X syndrome, Fragile X syndrome
RS2521452743 PLS3 Health Risk Pathogenic —
RS2521452825 PLS3 Health Risk Pathogenic —
RS2521452967 PLS3 Health Risk Pathogenic Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS2521453615 PLS3 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2521455305 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521455405 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521455525 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521455723 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521458985 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521459845 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS2521468886 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2521471111 PLS3 Health Risk Likely pathogenic Hernia, anterior diaphragmatic
RS2521471675 PLS3 Health Risk Pathogenic —
RS2521475979 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521479452 FMR1 Health Risk Conflicting classifications of pathogenicity Fragile X syndrome, Fragile X syndrome
RS2521479850 FMR1 Health Risk Pathogenic Fragile X syndrome, Fragile X syndrome
RS2521504046 FMR1 Health Risk Likely pathogenic Fragile X-associated tremor/ataxia syndrome, Fragile X-associated tremor/ataxia syndrome
RS2521505359 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521510445 UPF3B Health Risk Pathogenic —
RS2521511100 UPF3B Health Risk Pathogenic —
RS2521518413 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2521519226 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2521521060 PLS3 Health Risk Pathogenic —
RS2521522053 PLS3 Health Risk Pathogenic —
RS2521522129 VPS13D Health Risk Pathogenic —
RS2521522247 PLS3 Health Risk Pathogenic —
RS2521526324 UPF3B Health Risk Likely pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2521534355 PLS3 Health Risk Likely pathogenic X-linked osteoporosis with fractures, X-linked osteoporosis with fractures
RS2521537710 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2521545000 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2521547128 PLS3 Health Risk Likely pathogenic Hernia, anterior diaphragmatic
RS2521554733 HCFC1 Health Risk Conflicting classifications of pathogenicity HCFC1-related disorder, Methylmalonic acidemia with homocystinuria
RS2521559588 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2521564145 PUM1 Health Risk Likely pathogenic PUM1-related disorder, PUM1-related disorder
RS2521574129 UPF3B Health Risk Likely pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2521576667 UPF3B Health Risk Likely pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2521577196 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2521577214 UPF3B Health Risk Pathogenic —
RS2521577389 HUWE1 Health Risk Likely pathogenic —
RS2521582948 UPF3B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521596611 GABRA3 Health Risk Likely pathogenic Epilepsy, X-linked 2
RS2521607268 RNF113A Health Risk Likely pathogenic Trichothiodystrophy 5, nonphotosensitive
RS2521616187 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS2521617594 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521618823 FUCA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521619739 DOCK11 Health Risk Pathogenic Autoinflammatory disease, multisystem
RS2521621423 GABRA3 Health Risk Pathogenic Epilepsy, X-linked 2
RS2521622160 GPRASP2 Health Risk Likely pathogenic X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
RS2521630196 CSTF2 Health Risk Pathogenic Intellectual developmental disorder, X-linked 113
RS2521634441 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521634585 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521635192 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521638529 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521643296 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521643351 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2521644688 LCK Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2521645799 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2521649714 WNK3 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2521665871 PEX14 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group K
RS2521675340 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2521697784 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521700282 IL2RG Health Risk Likely pathogenic —
RS2521700334 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2521700357 IL2RG Health Risk Pathogenic —
RS2521702130 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2521702222 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2521703323 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2521714324 PUM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia 47
RS2521715879 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2521730814 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521730880 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521731093 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521745475 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521745643 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521745894 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521748820 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521753491 SMARCA1 Health Risk Likely pathogenic Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
RS2521759907 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521760199 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2521760820 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
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