Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 170 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P16278 pleiotropic VAR_008682 p.Lys578Arg Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062354 p.Gln255His Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_013552 p.Asn484Lys Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_003337 p.Trp509Cys Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_026133 p.Leu436Phe Non-Disease rs34421970 0.006 -
P16278 pleiotropic VAR_008673 p.Thr82Met Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062366 p.Asp441Asn Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062345 p.Pro136Ser Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062370 p.Pro597Ser Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008671 p.Pro10Leu Disease rs7637099 0.4319 GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_003333 p.Trp273Leu Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_062362 p.Pro397Ala Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_003331 p.Gly123Arg Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008678 p.Arg482Cys Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_062348 p.Asp151Val Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062360 p.Lys346Asn Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062352 p.Asp198Tyr Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_003329 p.Arg49Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062365 p.Leu422Arg Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_037944 p.Pro549Leu Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062350 p.Gln184Arg Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062364 p.Thr420Pro Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_013548 p.His281Tyr Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062340 p.Arg49His Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_013551 p.Gly438Glu Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_008672 p.Arg59His Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062361 p.Tyr347Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_013547 p.Tyr270Asp Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062351 p.Gly190Asp Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008677 p.Val240Met Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008683 p.Arg590His Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_003336 p.Arg482His Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_013549 p.Asp332Asn Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_053875 p.Arg109Trp Non-Disease rs35289681 0.0124 -
P16278 pleiotropic VAR_013542 p.Arg201His Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_037940 p.Leu162Ser Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008685 p.Tyr591Asn Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008679 p.Asp491Asn Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062358 p.Asp332Glu Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062353 p.Tyr199Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062349 p.Leu173Pro Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_003335 p.Arg457Gln Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062347 p.Ser149Phe Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_013541 p.Arg148Ser Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062346 p.Arg148Cys Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_013555 p.Gly579Asp Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_008675 p.Arg121Ser Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_013545 p.Pro263Ser Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062357 p.Thr329Ile Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008684 p.Tyr591Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]