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
RS2102817952 LMNA Health Risk Likely pathogenic 7 conditions, 7 conditions
RS2102818068 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818172 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818240 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818589 PAPPA2 Health Risk Pathogenic Short stature, Dauber-Argente type
RS2102818731 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818745 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818749 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818914 LMNA Health Risk Likely pathogenic —
RS2102821722 USH2A Health Risk Pathogenic —
RS2102821808 USH2A Health Risk Pathogenic —
RS2102823161 USH2A Health Risk Pathogenic —
RS2102823179 USH2A Health Risk Pathogenic —
RS2102823316 USH2A Health Risk Pathogenic —
RS2102823350 USH2A Health Risk Pathogenic —
RS2102823618 GNPAT Health Risk Likely pathogenic —
RS2102824382 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2102825068 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata
RS2102825771 TMEM63A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2102832737 IARS2 Health Risk Likely pathogenic —
RS2102837157 IARS2 Health Risk Pathogenic —
RS2102839341 IARS2 Health Risk Pathogenic —
RS2102844404 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102857548 TBCE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2102859415 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2102863392 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102864339 LYST Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2102865393 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1A
RS2102865805 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102866054 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome, Warburg micro syndrome 2
RS2102866080 RAB3GAP2 Health Risk Likely pathogenic —
RS2102866096 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2102875639 NCF2 Health Risk Likely pathogenic Chronic granulomatous disease, Chronic granulomatous disease
RS2102878324 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102878838 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102878843 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102878915 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102879250 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102879360 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102880436 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102880445 RAB3GAP2 Health Risk Likely pathogenic —
RS2102881081 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS2102881813 LMNA Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2102882192 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102883099 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A
RS2102883169 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, 11 conditions
RS2102884287 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102885144 NTRK1 Health Risk Likely pathogenic —
RS2102885150 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102885178 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102885187 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102886126 NTRK1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2102886311 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102886618 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102886914 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102887031 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102887348 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS2102888292 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102888695 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102889960 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102890051 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102890220 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102890245 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102890652 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2102890974 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102891243 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102891563 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102891579 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102891660 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2102893113 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102893473 NTRK1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2102893640 LMNA Health Risk Likely pathogenic —
RS2102893828 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102894271 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102894535 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102894883 ACTN2 Health Risk Likely pathogenic Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA
RS2102895466 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102895541 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102896007 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102896324 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102897778 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102897826 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102898170 EGLN1 Health Risk Pathogenic Erythrocytosis, familial
RS2102898301 LMNA Health Risk Likely pathogenic Cardiomyopathy, 11 conditions
RS2102898304 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS2102900184 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102900454 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102901069 LMNA Health Risk Likely pathogenic Familial partial lipodystrophy, Dunnigan type
RS2102901580 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions
RS2102901937 LMNA Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2102903043 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS2102904669 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102905325 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102905446 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102906069 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102908451 PRUNE1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS2102910660 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2102912108 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102912139 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102912811 WDR26 Health Risk Conflicting classifications of pathogenicity —
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