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
RS2138145527 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138145739 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138145859 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138145870 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138150227 FGF9 Health Risk Pathogenic —
RS2138150784 ARID2 Health Risk Pathogenic ARID2-related BAFopathy, ARID2-related BAFopathy
RS2138157209 ARID2 Health Risk Pathogenic Desmoplastic/nodular medulloblastoma, Desmoplastic/nodular medulloblastoma
RS2138162523 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138162739 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138165087 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138165644 ARID2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2138165905 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138166428 ARID2 Health Risk Likely pathogenic ARID2-related BAFopathy, ARID2-related BAFopathy
RS2138168418 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138168655 ARID2 Health Risk Pathogenic —
RS2138170893 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138174491 ARID2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138174785 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138177530 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2138177726 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138177931 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138178306 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138180455 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138181920 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138192598 ARID2 Health Risk Likely pathogenic —
RS2138204557 LPAR6 Health Risk Pathogenic Hypotrichosis 8, Hypotrichosis 8
RS2138204996 PIBF1 Health Risk Likely pathogenic Joubert syndrome 33, Joubert syndrome 33
RS2138212278 RFXAP Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2138213000 RFXAP Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2138215714 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2138215835 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138219892 ATN1 Health Risk Pathogenic/Likely pathogenic Congenital hypotonia, epilepsy
RS2138219913 ATN1 Health Risk Pathogenic Congenital hypotonia, epilepsy
RS2138219948 ATN1 Health Risk Conflicting classifications of pathogenicity Congenital hypotonia, epilepsy
RS2138219961 ATN1 Health Risk Likely pathogenic Congenital hypotonia, epilepsy
RS2138231889 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS2138232693 ARID2 Health Risk Likely pathogenic Chronic diarrhea, Chronic diarrhea
RS2138233303 ARID2 Health Risk Pathogenic —
RS2138241608 EED Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2138257533 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2138258171 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138258864 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2138259100 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2138259162 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2138297703 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2138298697 CEP290 Health Risk Pathogenic Leber congenital amaurosis 10, Leber congenital amaurosis 10
RS2138301967 LACC1 Health Risk Likely pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS2138306726 CIT Health Risk Likely pathogenic Microcephaly 17, primary
RS2138327123 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138327168 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138327439 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder
RS2138331297 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138331328 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138331459 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138331562 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138331576 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138331596 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138331657 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138335800 RB1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138335833 RB1 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2138335981 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138336089 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138336180 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138336207 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138336213 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138336481 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138342284 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138342342 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138342499 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138342583 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138342748 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138344431 RB1 Health Risk Likely pathogenic Retinoblastoma, Hereditary retinoblastoma
RS2138344503 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138344612 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138344622 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138344869 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138344902 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138344925 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2138344987 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138345066 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138345077 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138345650 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138345665 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138345718 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138345814 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138345919 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138345982 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138346270 RB1 Health Risk Pathogenic RB1-related disorder, RB1-related disorder
RS2138346300 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138354487 RB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2138354579 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138354759 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2138359672 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2138382043 SMAD9 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2138386032 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138407151 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2138414735 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2138415342 COL4A1 Health Risk Pathogenic Microangiopathy and leukoencephalopathy, pontine
RS2138422722 POLE Health Risk Pathogenic —
RS2138427647 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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