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
RS1672815555 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672818590 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672820246 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS1672822541 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1672830111 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672830765 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1672863537 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1672866585 FBXO11 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1672907018 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1672918134 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672919182 FAM161A Health Risk Pathogenic —
RS1672921868 FAM161A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1672928309 FAM161A Health Risk Pathogenic —
RS1672931057 FAM161A Health Risk Pathogenic —
RS1672934629 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1672938022 FAM161A Health Risk Pathogenic —
RS1672942991 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672945766 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1672946564 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672946845 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672947148 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS1672947913 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1672948970 FAM161A Health Risk Pathogenic —
RS1672950651 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1672951706 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1672953209 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672953502 FAM161A Health Risk Pathogenic —
RS1672955848 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1672956184 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1672957185 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1672958391 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1672959153 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672964092 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1672964817 FAM161A Health Risk Pathogenic —
RS1672973685 ALMS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1672976991 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1672982825 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1672986669 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1673040470 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1673064965 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1673065619 DNMT3A Health Risk Pathogenic DNMT3A-related disorder, DNMT3A-related disorder
RS1673066717 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1673067879 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1673070318 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1673072429 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1673074932 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1673078633 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1673079599 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1673082068 MSH2 Health Risk Pathogenic —
RS1673083690 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1673092558 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS1673102663 MATN3 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS1673116593 PREPL Health Risk Likely pathogenic —
RS1673136181 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1673169930 PREPL Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS1673171921 AKT3 Health Risk Pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS1673189476 WDR26 Health Risk Pathogenic/Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1673192650 WDR26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1673217321 LPIN1 Health Risk Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent
RS1673229720 NPHS2 Health Risk Pathogenic/Likely pathogenic Steroid-resistant nephrotic syndrome, Nephrotic syndrome
RS1673254835 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS1673255837 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1673263416 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1673264509 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1673288090 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Cardiovascular phenotype
RS1673318855 RPIA Health Risk Pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS1673322799 WDR26 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1673323181 WDR26 Health Risk Pathogenic —
RS1673333616 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1673398956 RIT1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome 8
RS1673399238 RIT1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 8, Cardiovascular phenotype
RS1673479296 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1673531830 KIDINS220 Health Risk Pathogenic KIDINS220-related disorder, KIDINS220-related disorder
RS1673545403 MSTO1 Health Risk Pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS1673549822 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS1673582111 KLHL20 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Neurodevelopmental disorder
RS1673617254 MSTO1 Health Risk Pathogenic —
RS1673619175 TTC7A Health Risk Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1673628520 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1673643995 ALMS1 Health Risk Pathogenic —
RS1673664656 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15
RS1673720739 LPIN1 Health Risk Pathogenic —
RS1673733539 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1673747823 LPIN1 Health Risk Pathogenic —
RS1673789444 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1673843345 ALG14 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with epilepsy, behavioral abnormalities
RS1673920358 LRPPRC Health Risk Pathogenic —
RS1673926348 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1673928022 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1673931379 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1673938031 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1673943931 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1673945046 LRPPRC Health Risk Pathogenic —
RS1673948297 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1673949938 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1673950263 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1673951492 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1673951633 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome
RS1673954981 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1673963444 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
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