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
RS2108409355 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108409560 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108409594 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108409609 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, PDCD10-related disorder
RS2108410808 PIK3CA Health Risk Pathogenic —
RS2108413895 PIK3CA Health Risk Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA-related disorder
RS2108414262 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2108414274 TBL1XR1 Health Risk Likely pathogenic Malignant lymphoma, large B-cell
RS2108414289 TBL1XR1 Health Risk Pathogenic Intellectual disability, autosomal dominant 41
RS2108414363 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108418891 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2108420039 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS2108421980 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2108424082 PIK3CA Health Risk Likely pathogenic PIK3CA related overgrowth syndrome, Rosette-forming glioneuronal tumor
RS2108424902 PIK3CA Health Risk Pathogenic/Likely pathogenic See cases, Angioosteohypertrophic syndrome
RS2108425112 ATR Health Risk Pathogenic —
RS2108425281 PIK3CA Health Risk Pathogenic/Likely pathogenic Cowden syndrome, Neoplasm
RS2108427429 ATR Health Risk Likely pathogenic —
RS2108427672 ATR Health Risk Pathogenic —
RS2108428908 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108429272 PIK3CA Health Risk Pathogenic/Likely pathogenic PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome
RS2108429507 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2108429509 PIK3CA Health Risk Pathogenic/Likely pathogenic PIK3CA related overgrowth syndrome, Cowden syndrome
RS2108429797 PIK3CA Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2108430158 PIK3CA Health Risk Pathogenic Lymphatic malformation, Lymphatic malformation
RS2108436501 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2108437312 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 41
RS2108437770 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108437904 ATR Health Risk Pathogenic —
RS2108438340 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 3
RS2108441280 ATR Health Risk Pathogenic —
RS2108441358 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108441513 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108441527 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108442073 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS2108446715 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Ovarian serous cystadenocarcinoma
RS2108456024 ATR Health Risk Likely pathogenic —
RS2108458548 EIF4A2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2108458617 EIF4A2 Health Risk Pathogenic/Likely pathogenic Intellectual disability with muscular spams, Neurodevelopmental disorder with hypotonia and speech delay
RS2108461735 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108462660 ATR Health Risk Pathogenic —
RS2108464046 EIF4A2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and speech delay
RS2108464344 ATR Health Risk Pathogenic —
RS2108466164 ATR Health Risk Likely pathogenic —
RS2108470990 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108473228 DNAJB11 Health Risk Pathogenic Renal cyst, Polycystic kidney disease
RS2108474093 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108477090 ATR Health Risk Likely pathogenic —
RS2108478067 ATR Health Risk Likely pathogenic —
RS2108478837 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108478897 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108479136 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS2108479383 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108479510 TBL1XR1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2108479532 TBL1XR1 Health Risk Likely pathogenic —
RS2108479565 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108480284 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108484048 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108484340 DNAJB11 Health Risk Likely pathogenic Enlarged kidney, Multiple renal cysts
RS2108485039 ATR Health Risk Likely pathogenic —
RS2108488694 ATR Health Risk Pathogenic —
RS2108490656 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Intellectual disability
RS2108490732 TBL1XR1 Health Risk Pathogenic —
RS2108490822 TBL1XR1 Health Risk Pathogenic Intellectual disability, autosomal dominant 41
RS2108496178 TBL1XR1 Health Risk Pathogenic Intellectual disability, autosomal dominant 41
RS2108496973 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108503840 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108503870 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108503904 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS2108504144 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108505736 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108509028 PLD1 Health Risk Likely pathogenic —
RS2108509666 DNAJC19 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS2108509746 DNAJC19 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS2108521642 SOX2 Health Risk Likely pathogenic Chorioretinal coloboma, Chorioretinal coloboma
RS2108521694 LOC108281177;SOX2;SOX2-OT Health Risk Pathogenic —
RS2108521702 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108521859 SOX2 Health Risk Likely pathogenic —
RS2108521935 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522189 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522196 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522646 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522652 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522679 SOX2 Health Risk Pathogenic Anophthalmia, Anophthalmia
RS2108522776 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522980 SOX2 Health Risk Pathogenic/Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108522983 SOX2;SOX2-OT Health Risk Pathogenic —
RS2108523389 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2108523802 SOX2 Health Risk Pathogenic —
RS2108525892 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108526355 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108526541 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108526606 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108528645 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108531489 P3H2 Health Risk Pathogenic —
RS2108532290 P3H2 Health Risk Pathogenic —
RS2108539830 TBL1XR1 Health Risk Pathogenic TBL1XR1-related disorder, TBL1XR1-related disorder
RS2108539881 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2108551939 MASP1 Health Risk Pathogenic —
RS2108565864 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
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