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
RS2065899494 MECP2 Health Risk Pathogenic —
RS2065902096 MECP2 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly
RS2065902916 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065903080 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065904037 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065904589 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2065905008 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2065907079 MECP2 Health Risk Pathogenic —
RS2065907185 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2065908727 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2065911287 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2065911518 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2065911737 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS2065913161 MECP2 Health Risk Likely pathogenic —
RS2065913795 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2065914451 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2065917262 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2065919863 MECP2 Health Risk Pathogenic/Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Neurodevelopmental delay
RS2065920670 MECP2 Health Risk Likely pathogenic Autism, susceptibility to
RS2065924353 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS2065924675 MECP2 Health Risk Likely pathogenic —
RS2065925520 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2065925648 MECP2 Health Risk Pathogenic —
RS2065928811 MECP2 Health Risk Pathogenic —
RS2065932064 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2065932114 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, BBS4-related disorder
RS2065932944 BBS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bardet-Biedl syndrome
RS2065933012 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2065933350 SH3KBP1 Health Risk Conflicting classifications of pathogenicity —
RS2065935510 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2065935636 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2065938100 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2065944203 MECP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly
RS2065947222 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS2065950974 MECP2 Health Risk Pathogenic/Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS2065959942 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS2065960258 BPTF Health Risk Likely pathogenic —
RS2065960775 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS2065962813 MITF Health Risk Pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2065987178 MECP2 Health Risk Pathogenic —
RS2065988707 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2065989620 MECP2 Health Risk Pathogenic Rett syndrome, Intellectual disability
RS2066011284 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066011417 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066030589 FOXP3 Health Risk Likely pathogenic —
RS2066032846 FOXP3 Health Risk Likely pathogenic Hydrops fetalis, Hydrops fetalis
RS2066044949 FOXP3 Health Risk Pathogenic/Likely pathogenic/Likely risk allele Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Neurodevelopmental disorder
RS2066051319 MYRF Health Risk Likely pathogenic Congenital diaphragmatic hernia, Heart
RS2066053673 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2066062676 COL4A5 Health Risk Pathogenic/Likely pathogenic COL4A5-related disorder, Nonpapillary renal cell carcinoma
RS2066064057 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2066064533 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2066069145 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066070056 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066070104 COL4A5 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2066083033 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2066088072 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2066089464 FOXP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2066099798 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066101487 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066119604 AVP Health Risk Conflicting classifications of pathogenicity Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
RS2066130986 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066132105 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066138676 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066139158 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066140289 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066155612 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066157933 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066157974 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066158230 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066158359 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066158802 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066158952 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066159719 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066160116 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066160245 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2066169270 TTN Health Risk Pathogenic Early-onset myopathy with fatal cardiomyopathy, TTN-related myopathy
RS2066183255 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066188778 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066189282 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2066227699 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066231013 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066237678 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066248439 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066264379 MITF Health Risk Pathogenic —
RS2066264802 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Tietz syndrome
RS2066265350 MITF Health Risk Conflicting classifications of pathogenicity Intellectual disability, Waardenburg syndrome type 2A
RS2066273571 COL4A5 Health Risk Likely pathogenic —
RS2066274585 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066284895 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS2066292405 TRAPPC9 Health Risk Pathogenic —
RS2066300090 TCTN1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2066302424 MYRF Health Risk Likely pathogenic Heart, malformation of
RS2066302717 COL4A5 Health Risk Likely pathogenic —
RS2066319871 HAMP Health Risk Pathogenic Hemochromatosis type 2B, Hemochromatosis type 2B
RS2066339336 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066342176 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066342908 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066373952 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2066382188 MYRF Health Risk Likely pathogenic Heart, malformation of
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