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
RS1586422427 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS1586426486 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586426507 CHD7 Health Risk Likely pathogenic —
RS1586430684 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1586430715 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1586431452 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1586431903 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1586432203 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1586437186 CHD7 Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1586440484 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1586440620 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1586444410 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586444636 CHD7 Health Risk Pathogenic —
RS1586446057 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1586446101 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586446578 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1586449004 CHD7 Health Risk Likely pathogenic —
RS1586451506 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586451553 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1586452701 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586452965 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586453267 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586453329 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586453824 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586456278 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1586456293 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1586456350 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1586456404 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1586457060 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1586457084 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1586459408 THAP1 Health Risk Likely pathogenic Dystonic disorder, Dystonic disorder
RS1586459413 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS1586460329 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586462917 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1586463029 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586464368 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1586466948 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586468521 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586472959 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS1586479593 INTS8 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
RS1586484463 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS1586485406 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1586485438 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1586486170 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS1586487826 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1586496726 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1586499614 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1586507590 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1586510615 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS1586510870 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1586514992 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS1586515112 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS1586540615 INTS8 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
RS1586555859 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1586557065 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1586558204 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1586561494 CYP11B1 Health Risk Conflicting classifications of pathogenicity —
RS1586565506 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1586573244 CYP11B2 Health Risk Pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS1586586381 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS1586590135 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1586595293 MNX1 Health Risk Pathogenic —
RS1586620121 CPSF1 Health Risk Pathogenic Myopia 27, Myopia 27
RS1586635371 SMARCA2 Health Risk Likely pathogenic —
RS1586636643 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1586652047 SLC39A4 Health Risk Likely pathogenic —
RS1586657848 SMARCA2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Blepharophimosis-impaired intellectual development syndrome
RS1586660338 SMARCA2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1586660370 SMARCA2 Health Risk Pathogenic Intellectual disability, Blepharophimosis-impaired intellectual development syndrome
RS1586660381 SMARCA2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Blepharophimosis-impaired intellectual development syndrome
RS1586660389 SMARCA2 Health Risk Pathogenic Intellectual disability, Nicolaides-Baraitser syndrome
RS1586672470 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1586681137 POMK Health Risk Pathogenic Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1586681982 TONSL Health Risk Pathogenic/Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS1586686845 KCNV2 Health Risk Pathogenic cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram
RS1586686896 KCNV2 Health Risk Likely pathogenic cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram
RS1586687216 KCNV2 Health Risk Pathogenic cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram
RS1586687247 KCNV2 Health Risk Likely pathogenic cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram
RS1586687279 TONSL Health Risk Pathogenic/Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS1586692058 TONSL Health Risk Pathogenic/Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS1586692481 SMARCA2 Health Risk Likely pathogenic Intellectual disability, Blepharophimosis-impaired intellectual development syndrome
RS1586692548 SMARCA2 Health Risk Pathogenic Intellectual disability, Blepharophimosis-impaired intellectual development syndrome
RS1586692551 SMARCA2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Blepharophimosis-impaired intellectual development syndrome
RS1586692857 KCNV2 Health Risk Likely pathogenic cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram
RS1586698317 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1586721515 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1586744173 GLIS3 Health Risk Pathogenic/Likely pathogenic Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS1586765219 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1586787093 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1586790519 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Papillary renal cell carcinoma type 1
RS1586791537 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586791945 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586792875 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586794015 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1586794308 GDAP1 Health Risk Likely pathogenic —
RS1586794620 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586795055 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586795216 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS1586795440 GDAP1 Health Risk Likely pathogenic —
RS1586795973 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
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