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
RS1670805547 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1670806923 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1670807608 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS1670857628 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1670884795 LRPPRC Health Risk Pathogenic —
RS1670921815 SDHC Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1670970306 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Ovarian serous cystadenocarcinoma
RS1670978559 TPO Health Risk Pathogenic —
RS1671005559 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome 4
RS1671008126 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS1671017057 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671019928 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1671044312 LRPPRC Health Risk Likely pathogenic —
RS1671145065 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1671149258 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS1671156558 SDHC Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1671157149 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1671171740 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS1671184211 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1671196392 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1671197579 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1671228363 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS1671229414 SOS1 Health Risk Likely pathogenic 46, XY partial gonadal dysgenesis
RS1671237172 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1671239143 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671239184 ALMS1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1671239229 ALMS1 Health Risk Pathogenic —
RS1671239582 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671240457 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671280764 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1671299484 FBXO11 Health Risk Likely pathogenic —
RS1671301435 LRPPRC Health Risk Pathogenic —
RS1671302218 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1671310097 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1671340542 ALMS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Alstrom syndrome
RS1671343808 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671350045 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671380508 ALMS1 Health Risk Pathogenic Retinal dystrophy, early-onset severe
RS1671446124 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1671446564 FBXO11 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1671498215 POMC Health Risk Pathogenic —
RS1671524499 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1671535986 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1671620332 ADAMTSL4 Health Risk Pathogenic —
RS1671623546 ADAMTSL4 Health Risk Likely pathogenic —
RS1671655923 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease
RS1671660634 GBA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1671676200 ADAMTSL4 Health Risk Pathogenic —
RS1671684409 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1671685956 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma/paraganglioma syndrome 3
RS1671699033 GBA1 Health Risk Pathogenic —
RS1671711470 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1671712475 GBA1 Health Risk Likely pathogenic Gaucher disease type I, GBA1-related disorder
RS1671785111 ADAMTSL4 Health Risk Pathogenic —
RS1671794742 ODC1 Health Risk Pathogenic Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
RS1671795191 ODC1 Health Risk Likely pathogenic Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
RS1671798353 ODC1 Health Risk Pathogenic Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
RS1671813157 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1671814748 ODC1 Health Risk Pathogenic Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
RS1671814787 ODC1 Health Risk Pathogenic Neurodevelopmental disorder with alopecia and brain abnormalities, Neurodevelopmental disorder with alopecia and brain abnormalities
RS1671825414 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS1671846580 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1671852270 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1671854739 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1671854827 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1671856137 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671859372 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671859518 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1671859674 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671859807 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671863383 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1671863469 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671865905 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS1671869827 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671872221 GBA1 Health Risk Pathogenic Gaucher disease, Parkinson disease
RS1671873298 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1671874854 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1671876151 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671876471 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671879028 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1671880064 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671880172 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671883188 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671883598 ALMS1 Health Risk Pathogenic Alstrom syndrome, Leber congenital amaurosis
RS1671885188 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671885850 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671886130 ALMS1 Health Risk Pathogenic Retinal dystrophy, early-onset severe
RS1671886193 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671888166 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1671890891 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671890998 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS1671897788 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671899045 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671910873 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1671915447 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1671925979 ALMS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1671932095 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1671936359 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS1671940053 MOGS Health Risk Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS1671941012 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
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