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
RS2069154005 MAPK1 Health Risk Pathogenic 6 conditions, Noonan syndrome 13
RS2069154121 MAPK1 Health Risk Pathogenic 6 conditions, Noonan syndrome 13
RS2069191620 SCO2 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2069199944 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2069206788 SCO2 Health Risk Pathogenic —
RS2069218741 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS2069219201 NLRP7 Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS2069226261 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2069227227 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2069227856 PAFAH1B1 Health Risk Pathogenic —
RS2069230138 SCO2 Health Risk Pathogenic —
RS2069240492 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2069242131 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2069271269 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2069289146 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2069325477 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2069325872 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069325928 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069326347 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069326534 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069326575 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069326761 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069327013 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069327949 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069328243 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069328472 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069329312 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069329470 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069329774 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069329829 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069330560 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069330719 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069331323 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069331850 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069332805 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069333368 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069334590 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069335393 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069336015 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069336193 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2069336790 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069336948 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069337096 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069337884 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069338050 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069338262 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2069338311 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069338793 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069358559 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2069359971 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2069361375 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS2069361452 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2069375606 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069376216 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069376426 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069376973 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069377259 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069377278 TYMP Health Risk Pathogenic/Likely pathogenic —
RS2069378035 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069378463 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069379168 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069380852 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069381058 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069381323 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069382435 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069382585 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069382639 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069383338 TYMP Health Risk Likely pathogenic —
RS2069383586 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069385520 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069385970 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069386536 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069386760 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069386858 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069404553 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2069405903 NBEA Health Risk Likely pathogenic —
RS2069418640 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2069445752 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2069446068 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2069447812 NF1 Health Risk Likely pathogenic —
RS2069448326 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069448374 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069448419 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069448473 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069448538 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069448879 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069449497 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069450324 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069451431 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069452094 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069453458 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069454068 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069454362 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069454402 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069454695 NF1 Health Risk Pathogenic —
RS2069454921 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069502314 TYMP Health Risk Pathogenic —
RS2069504242 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2069534941 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2069544 MYH7 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
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