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 62 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9H251 pleiotropic VAR_012167 p.Gly490Ala Non-Disease rs1227049 0.1853 -
Q9H251 pleiotropic VAR_046437 p.Val2968Ala Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_012182 p.Asp2045Asn Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_046412 p.Arg1236Gln Non-Disease - - -
Q9H251 pleiotropic VAR_027336 p.Asp2148Asn Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027324 p.Gly1186Asp Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027332 p.Thr1887Ile Non-Disease - - -
Q9H251 pleiotropic VAR_027317 p.Asp124Gly Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_012177 p.Val1675Ile Non-Disease rs17712523 0.1322 -
Q9H251 pleiotropic VAR_046424 p.Asp1930Asn Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_046418 p.Gln1716Pro Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_012169 p.Asp990Asn Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027339 p.Arg2465Trp Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_046434 p.Gly2771Ser Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_012170 p.Ala1222Thr Non-Disease rs41281316 0.0108 -
Q9H251 pleiotropic VAR_012166 p.Arg3Cys Non-Disease rs7902757 0.1107 -
Q9H251 pleiotropic VAR_012168 p.Ser496Asn Non-Disease rs10999947 0.2524 -
Q9H251 pleiotropic VAR_046433 p.Ile2669Val Non-Disease - - -
Q9H251 pleiotropic VAR_027326 p.Asp1341Asn Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_046422 p.Val1908Ile Non-Disease - - -
Q9H251 pleiotropic VAR_027341 p.Arg2608His Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_012172 p.Arg1349Cys Non-Disease rs41281318 0.0018 -
Q9H251 pleiotropic VAR_024033 p.Arg3189Trp Disease - - Usher syndrome 1D/F (USH1DF) [MIM:601067]
Usher syndrome 1D (USH1D) [MIM:601067]
Q9H251 pleiotropic VAR_012187 p.Ile2950Asn Disease - - Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
Q9H251 pleiotropic VAR_027340 p.Ser2517Gly Disease - - Usher syndrome 1D (USH1D) [MIM:601067]
P22223 pleiotropic VAR_031931 p.Gln563His Non-Disease rs1126933 0.3567 -
P22223 pleiotropic VAR_015422 p.Arg503His Disease - - Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553]
P22223 pleiotropic VAR_031930 p.Arg477His Non-Disease rs34494880 0.0289 -
P22223 pleiotropic VAR_033010 p.Asn322Ile Disease - - Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) [MIM:225280]
P22223 pleiotropic VAR_031929 p.Val237Met Non-Disease rs17854171 - -
P11802 non-pleiotropic VAR_029153 p.Arg82Gln Non-Disease rs3211612 - -
P11802 non-pleiotropic VAR_006201 p.Arg24His Disease - - Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
P11802 non-pleiotropic VAR_006200 p.Arg24Cys Disease rs11547328 - Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
P11802 non-pleiotropic VAR_021152 p.Asn41Ser Disease - - Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048]
P11802 non-pleiotropic VAR_041976 p.Arg122His Non-Disease rs34386532 0.0002 -
P42771 pleiotropic VAR_001463 p.Ala100Pro Non-Disease - - -
P42771 pleiotropic VAR_001460 p.Arg99Pro Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_001423 p.Gln50Arg Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_001472 p.Ala118Thr Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_001462 p.Ala100Leu Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_035069 p.Gly122Arg Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_001453 p.Gly89Asp Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_053029 p.His83Gln Non-Disease rs34968276 - -
P42771 pleiotropic VAR_053030 p.Arg99Trp Non-Disease rs34886500 - -
P42771 pleiotropic VAR_053031 p.Ala102Thr Non-Disease rs35741010 - -
P42771 pleiotropic VAR_001457 p.Leu97Arg Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_001432 p.Ala68Leu Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
P42771 pleiotropic VAR_001422 p.Ile49Thr Non-Disease - - -
P42771 pleiotropic VAR_001428 p.Ala60Thr Non-Disease - - -
P42771 pleiotropic VAR_001420 p.Pro48Leu Disease - - Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]