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
RS2147759475 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147759662 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147760387 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2147761759 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2147762267 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147762308 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147762411 HADHA Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147762900 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147764198 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147764222 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2147764477 PLP1 Health Risk Pathogenic —
RS2147764567 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147764593 PLP1;RAB9B Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147764596 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147764616 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease
RS2147764634 PLP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease
RS2147765101 COL4A5 Health Risk Likely pathogenic —
RS2147765197 COL4A5 Health Risk Likely pathogenic —
RS2147765873 PLP1 Health Risk Pathogenic —
RS2147765890 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147766068 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, See cases
RS2147766482 PHKA1 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147766716 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147766937 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS2147766958 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS2147766999 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2147767061 PLP1 Health Risk Pathogenic —
RS2147768028 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS2147768516 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147769502 HADHA Health Risk Pathogenic —
RS2147769775 MED12 Health Risk Likely pathogenic FG syndrome, FG syndrome
RS2147769993 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147770199 COL4A5 Health Risk Pathogenic —
RS2147770243 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS2147770394 DLG3 Health Risk Likely pathogenic —
RS2147770608 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2147770618 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147771579 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2147771642 DLG3 Health Risk Likely pathogenic Intellectual disability, X-linked 90
RS2147773762 PCNT Health Risk Pathogenic —
RS2147774632 MED12 Health Risk Pathogenic FG syndrome 1, MED12-related intellectual disability syndrome
RS2147776049 COL4A5 Health Risk Likely pathogenic —
RS2147776168 TFE3 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2147776175 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS2147776373 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2147776381 TFE3 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2147776445 TFE3 Health Risk Likely pathogenic Intellectual developmental disorder, X-linked
RS2147776463 TFE3 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2147776527 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147776565 COL4A5 Health Risk Pathogenic —
RS2147776596 COL4A5 Health Risk Pathogenic —
RS2147776797 COL4A5 Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS2147777343 TFE3 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2147777346 TFE3 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2147777425 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147777495 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2147777529 KDM6A Health Risk Pathogenic Malignant tumor of urinary bladder, Familial cancer of breast
RS2147779510 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147779873 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147780368 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS2147781020 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2147781182 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147781328 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147782173 MED12 Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
RS2147782314 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Senior-Loken syndrome 7
RS2147783150 MED12 Health Risk Likely pathogenic —
RS2147783158 MED12 Health Risk Pathogenic FG syndrome 1, FG syndrome 1
RS2147783395 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2147783712 MED12 Health Risk Likely pathogenic —
RS2147784234 COL4A5 Health Risk Likely pathogenic —
RS2147784271 COL4A5 Health Risk Pathogenic —
RS2147784383 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147785143 MED12 Health Risk Likely pathogenic See cases, See cases
RS2147787275 UPF3B Health Risk Pathogenic —
RS2147787295 UPF3B Health Risk Pathogenic Inborn genetic diseases, Syndromic X-linked intellectual disability 14
RS2147787331 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS2147787964 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147787972 COL4A5 Health Risk Pathogenic —
RS2147788213 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147788229 COL4A5 Health Risk Pathogenic —
RS2147788399 COL4A5 Health Risk Pathogenic —
RS2147789622 MED12 Health Risk Likely pathogenic —
RS2147791162 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2147791994 MED12 Health Risk Pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147796647 MED12 Health Risk Likely pathogenic FG syndrome 1, Blepharophimosis - intellectual disability syndrome
RS2147796671 COL4A5 Health Risk Pathogenic —
RS2147797124 COL4A5 Health Risk Likely pathogenic —
RS2147797143 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147797210 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147797835 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, FG syndrome 1
RS2147798001 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147798012 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147798059 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147798143 COL4A5 Health Risk Pathogenic —
RS2147798207 COL4A5 Health Risk Pathogenic —
RS2147798228 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147799052 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147802765 UPF3B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147805055 DOCK6 Health Risk Likely pathogenic —
RS2147805923 MED12 Health Risk Pathogenic/Likely pathogenic FG syndrome 1, Blepharophimosis - intellectual disability syndrome
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