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
RS2547708515 SYT1 Health Risk Likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS2547709665 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547709703 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547709728 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547709820 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547714364 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547714818 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547714850 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547714865 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547715052 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547715193 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547715234 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547715376 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547715484 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547715622 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547715854 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547716254 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547716328 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547716337 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547716462 ATP7B Health Risk Pathogenic ATP7B-related disorder, ATP7B-related disorder
RS2547716524 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547716554 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547717373 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2547724461 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547724565 ATP7B Health Risk Pathogenic —
RS2547725052 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547725494 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547725567 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547725887 ATP7B Health Risk Pathogenic —
RS2547726543 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547726575 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547727051 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2547728137 CPLANE1 Health Risk Pathogenic —
RS2547728684 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS2547729623 CPLANE1 Health Risk Likely pathogenic —
RS2547734539 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547738187 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2547740910 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2547741003 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2547752366 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547752969 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547753077 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547753650 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547753785 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547753845 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547773063 CACNA1C Health Risk Pathogenic —
RS2547777444 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547777899 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547778015 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547778738 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547778823 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547779039 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547779339 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547779453 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547785983 SYT1 Health Risk Likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS2547792647 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547792957 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547793038 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793319 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793353 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547793475 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547793496 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793888 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547794264 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547794793 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547794910 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547795485 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547807758 ATP5F1B Health Risk Pathogenic Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, Hypermetabolism due to Defect in Mitochondrial Coupling
RS2547813133 SOX5 Health Risk Pathogenic —
RS2547813154 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2547813256 SOX5 Health Risk Pathogenic —
RS2547813307 SOX5 Health Risk Pathogenic/Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2547813787 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547814405 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547814506 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547815959 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547816098 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547816289 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547816464 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547817547 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547817654 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547818083 VPS13C Health Risk Pathogenic —
RS2547818100 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547818656 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547818839 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547819253 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547819269 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547819386 CPLANE1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2547819511 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547819753 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547820642 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547820845 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547821915 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547821975 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547822465 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547822680 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547823042 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547823060 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547823465 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547824080 CPLANE1 Health Risk Likely pathogenic —
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