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
RS1555461695 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555461697 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555461704 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461727 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461733 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555461765 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461777 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461779 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461788 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555461790 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461796 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461809 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS1555461825 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555461835 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555461846 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555461868 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555461870 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1555461872 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555461875 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555462026 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555462031 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555462076 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555462145 IGF1R Health Risk Pathogenic —
RS1555462184 AP4E1 Health Risk Likely pathogenic Stuttering, familial persistent
RS1555462347 USP7 Health Risk Likely pathogenic USP7-related disorder, Hao-Fountain syndrome
RS1555462433 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555462438 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555462463 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555463008 IGF1R Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555464774 AP3B2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 48
RS1555465642 USP7 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS1555465891 SRCAP Health Risk Pathogenic/Likely pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS1555465917 SRCAP Health Risk Pathogenic —
RS1555465928 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS1555465942 SRCAP Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Floating-Harbor syndrome
RS1555465963 CLCN7 Health Risk Likely pathogenic —
RS1555465966 SRCAP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555466178 SRCAP Health Risk Likely pathogenic —
RS1555466999 SLC12A1 Health Risk Likely pathogenic Nephrocalcinosis, Nephrolithiasis
RS1555467052 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1555467473 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1555467557 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Inborn genetic diseases
RS1555468374 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1555468482 ERCC4 Health Risk Pathogenic Cockayne syndrome, Fanconi anemia complementation group Q
RS1555468632 CLN3 Health Risk Pathogenic Retinitis pigmentosa, Neuronal ceroid lipofuscinosis 3
RS1555468634 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Retinitis pigmentosa
RS1555468695 CLN3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Neuronal ceroid lipofuscinosis
RS1555468920 CLN3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555469089 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1555469159 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1555469452 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1555469477 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1555469732 TELO2 Health Risk Likely pathogenic —
RS1555470631 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555471077 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555471086 CREBBP Health Risk Pathogenic —
RS1555471098 CREBBP Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1555471323 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555471336 CREBBP Health Risk Pathogenic —
RS1555471355 CREBBP Health Risk Pathogenic/Likely pathogenic —
RS1555471385 CREBBP Health Risk Likely pathogenic —
RS1555471394 CREBBP Health Risk Likely pathogenic Inborn genetic diseases, Menke-Hennekam syndrome 1
RS1555471813 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555471874 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1555471931 CREBBP Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555471981 MEIS2 Health Risk Pathogenic Inborn genetic diseases, Cardiac malformation
RS1555472161 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472262 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472270 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472296 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472406 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472432 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472440 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472543 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1555472553 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555472691 MEIOB Health Risk Pathogenic Spermatogenic failure 22, Spermatogenic failure 22
RS1555472931 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1555472938 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555473070 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555473105 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555473122 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555473138 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555473349 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1555473491 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Cervical cancer
RS1555473499 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555473668 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1555473890 CREBBP Health Risk Pathogenic —
RS1555474009 IFT140 Health Risk Pathogenic Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene, Retinitis pigmentosa 80
RS1555475106 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1555475120 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1555475250 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555475275 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1555475283 STUB1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48
RS1555475319 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1555475334 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1555475342 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1555475352 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555475375 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS1555475414 SALL1 Health Risk Conflicting classifications of pathogenicity SALL1-related disorder, Townes syndrome
RS1555475434 HCN4 Health Risk Likely pathogenic Brugada syndrome 8, Brugada syndrome 8
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