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
RS1933800287 CDC45 Health Risk Pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS1933813724 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1933873534 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1933881504 CHM Health Risk Pathogenic —
RS1933891368 CLCN5 Health Risk Pathogenic Dent disease type 1, Proteinuria
RS1933898062 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1933903437 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1933918055 IL1RAPL1 Health Risk Likely pathogenic —
RS1933958646 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1933972061 AP1S2 Health Risk Likely pathogenic Pettigrew syndrome, Pettigrew syndrome
RS1933979876 CLCN5 Health Risk Likely pathogenic Dent disease type 1, X-linked recessive nephrolithiasis with renal failure
RS1933984291 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS1934015542 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1934037265 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1934037561 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1934039336 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1934041295 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1934055157 CLCN5 Health Risk Likely pathogenic —
RS1934069016 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1934164465 PHEX Health Risk Likely pathogenic —
RS1934205000 AP1S2 Health Risk Pathogenic —
RS1934205302 CFAP44 Health Risk Pathogenic —
RS1934209113 AP1S2 Health Risk Pathogenic Pettigrew syndrome, Thyroid cancer
RS1934288587 AP1S2 Health Risk Pathogenic/Likely pathogenic Pettigrew syndrome, Pettigrew syndrome
RS1934470534 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS1934541230 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1934549221 BCOR Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1934561313 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1934564024 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS1934582371 MID1 Health Risk Pathogenic/Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1934631873 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS1934642808 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS1934657828 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1934693393 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1934694621 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1934722562 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1934728804 KDM5C Health Risk Likely pathogenic Intellectual disability, Hirsutism
RS1934751829 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1934884804 SMARCA1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS1934953 CYP2C8 Health Risk association Pulmonary disease, chronic obstructive
RS1934977011 PHEX Health Risk Pathogenic —
RS1934977931 PHEX Health Risk Pathogenic —
RS1935034055 BCOR Health Risk Pathogenic BCOR-related disorder, Oculofaciocardiodental syndrome
RS1935034328 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1935080744 BCOR Health Risk Pathogenic —
RS1935081157 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1935180194 PHEX Health Risk Likely pathogenic —
RS1935181910 PHEX Health Risk Likely pathogenic —
RS1935183456 PHEX Health Risk Likely pathogenic —
RS1935184925 PHEX Health Risk Pathogenic —
RS1935185526 PHEX Health Risk Likely pathogenic —
RS1935185854 PHEX Health Risk Pathogenic —
RS1935194749 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1935220169 GK Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1935269189 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1935269631 PHEX Health Risk Pathogenic —
RS1935270550 PHEX Health Risk Pathogenic —
RS1935273095 PHEX Health Risk Pathogenic —
RS1935273502 PHEX Health Risk Pathogenic —
RS1935273759 PHEX Health Risk Likely pathogenic —
RS1935275564 PHEX Health Risk Pathogenic —
RS1935333494 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1935349786 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1935449238 CRYBB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1935478339 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Inborn genetic diseases
RS1935482553 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1935483520 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1935496594 CRYBB2 Health Risk Likely pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS1935506410 PHEX Health Risk Pathogenic —
RS1935507597 PHEX Health Risk Pathogenic —
RS1935508775 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1935508894 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1935539638 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1935543685 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1935548501 PHEX Health Risk Pathogenic —
RS1935549248 PHEX Health Risk Pathogenic —
RS1935549921 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1935550041 PHEX Health Risk Pathogenic —
RS1935553204 PHEX Health Risk Likely pathogenic —
RS1935600115 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS1935664658 BCOR Health Risk Pathogenic —
RS1935668973 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1935671225 ALAS2 Health Risk Likely pathogenic X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS1935688006 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1935688233 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1935731505 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1935770465 UROC1 Health Risk Pathogenic Urocanate hydratase deficiency, Urocanate hydratase deficiency
RS1935810876 RBM10 Health Risk Pathogenic —
RS1935828015 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1935843757 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS1935884990 ACAD9 Health Risk Conflicting classifications of pathogenicity —
RS1935927985 STAG1 Health Risk Likely pathogenic —
RS1935950310 ZNF148 Health Risk Likely pathogenic —
RS1935959694 ZNF148 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1936007409 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1936038822 ACAD9 Health Risk Pathogenic —
RS1936041020 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1936098220 OCRL Health Risk Pathogenic —
RS1936103770 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1936109638 PLOD2 Health Risk Likely pathogenic —
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