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
RS2150664716 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150668444 FBXO31 Health Risk Pathogenic/Likely pathogenic Ectopic thyroid, Spastic cerebral palsy
RS2150669316 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150669574 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150669764 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150669783 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150669843 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHD7-related disorder
RS2150669923 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150669944 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150669971 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150670337 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150674258 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2150674982 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2150675032 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2150675170 AIPL1 Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS2150676904 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2150677132 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2150678060 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2150680046 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150680264 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150683817 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150685528 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150687333 TCOF1 Health Risk Pathogenic Treacher Collins syndrome, Treacher Collins syndrome
RS2150687380 COL4A4 Health Risk Pathogenic —
RS2150687507 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2150687608 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150687684 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2150688207 COL4A4 Health Risk Pathogenic —
RS2150690183 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150690197 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150691608 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150691981 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2150695587 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150697457 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150697552 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS2150697555 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150697787 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150697832 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150702964 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS2150703022 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS2150703425 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS2150704850 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150705198 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150706662 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150707502 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150708627 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150708828 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150708918 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150710134 PMP22 Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS2150710219 PMP22 Health Risk Likely pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS2150711063 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150711288 MYOCD Health Risk Likely pathogenic Megabladder, congenital
RS2150713720 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150714943 TCOF1 Health Risk Pathogenic —
RS2150715791 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150716827 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150723965 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2150723994 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2150726644 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150728161 DNAH9 Health Risk Pathogenic —
RS2150729369 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150732608 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150732849 NEB Health Risk Likely pathogenic —
RS2150734056 SUGCT Health Risk Likely pathogenic Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS2150734334 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150735761 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150735809 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150735961 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2150736114 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2150736228 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150736424 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2150736431 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2150736605 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150736616 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150736647 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150736648 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2150736842 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150736854 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150736865 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2150736986 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150737232 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS2150737331 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2150737344 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150737598 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2150737655 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150737680 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2150737953 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2150738027 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2150739058 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150739129 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2150739132 COL4A4 Health Risk Pathogenic —
RS2150739928 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2150739953 COL4A4 Health Risk Pathogenic COL4A4-related disorder, Autosomal recessive Alport syndrome
RS2150741648 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741666 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741763 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741788 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741844 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741916 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150746796 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
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