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
RS1601201552 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601202006 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1601202545 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601204455 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601204466 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1601205954 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1601214948 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601215588 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601216910 COL6A2 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS1601219069 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1601220977 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1601221868 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1601230245 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS1601231322 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B
RS1601232289 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1601238563 TUBB1 Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1601239459 TUBB1 Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1601239696 TUBB1 Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1601240010 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS1601243241 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601245742 SON Health Risk Pathogenic —
RS1601246415 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601247763 GP1BB Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1601248210 GP1BB Health Risk Likely pathogenic Thrombocytopenia, Macrothrombocytopenia
RS1601248245 GP1BB Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1601248530 GP1BB Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1601248578 GP1BB Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Bernard Soulier syndrome
RS1601248859 GP1BB Health Risk Likely pathogenic Macrothrombocytopenia, Thrombocytopenia
RS1601248889 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1601249021 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1601253237 DYRK1A Health Risk Pathogenic —
RS1601260044 SON Health Risk Pathogenic —
RS1601260508 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1601260658 SON Health Risk Pathogenic —
RS1601263223 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1601265607 SON Health Risk Pathogenic —
RS1601267617 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1601268503 SON Health Risk Pathogenic —
RS1601268952 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS1601269091 DYRK1A Health Risk Pathogenic —
RS1601269392 SON Health Risk Pathogenic —
RS1601273823 SON Health Risk Pathogenic —
RS1601274465 SON Health Risk Pathogenic —
RS1601275471 SON Health Risk Pathogenic —
RS1601280018 TBX1 Health Risk Likely pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1601280230 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1601280271 SON Health Risk Pathogenic —
RS1601284455 ITGB2 Health Risk Likely pathogenic —
RS1601294188 TBX1 Health Risk Pathogenic —
RS1601294362 TBX1 Health Risk Pathogenic Conotruncal anomaly face syndrome, Conotruncal anomaly face syndrome
RS1601294872 SPECC1L Health Risk Likely pathogenic Autosomal dominant Opitz G/BBB syndrome, Teebi hypertelorism syndrome
RS1601299278 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1601302490 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1601315812 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related disorder
RS1601316350 DYRK1A Health Risk Pathogenic —
RS1601319086 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1601319352 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1601319501 MN1 Health Risk Conflicting classifications of pathogenicity CEBALID syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS1601319538 MN1 Health Risk Pathogenic/Likely pathogenic CEBALID syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS1601319584 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS1601319598 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS1601319615 MN1 Health Risk Pathogenic CEBALID syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS1601331202 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1601333612 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601339216 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1601340933 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1601356283 LAMA5 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, IIa 26
RS1601382677 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601388576 SMARCB1 Health Risk Pathogenic —
RS1601405064 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related schwannomatosis
RS1601415426 RUNX1 Health Risk Pathogenic Storage pool disease of platelets, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601416036 RUNX1 Health Risk Pathogenic Storage pool disease of platelets, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601419986 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS1601433318 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1
RS1601433521 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601446826 SMARCB1 Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1601493825 MCM3AP Health Risk Likely pathogenic —
RS1601514990 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1601515707 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601515718 RUNX1 Health Risk Likely pathogenic Thrombocytopenia, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601515836 NF2 Health Risk Pathogenic —
RS1601515970 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601516118 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601528621 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601528701 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1601542417 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1601542702 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1601543670 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS1601544177 KCNQ2 Health Risk Pathogenic —
RS1601545088 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1601548832 KCNQ2 Health Risk Likely pathogenic —
RS1601548976 KCNQ2 Health Risk Likely pathogenic —
RS1601551862 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1601552154 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1601566621 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1601572654 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1601573302 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1601578932 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1601579095 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601579295 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
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