SNP Links for Gene (Select 59338) - SNP

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Select item 14914936101.

rs1491493610 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:122417646 (GRCh38)
10:124177163 (GRCh37)
Canonical SPDI:: NC_000010.11:122417646::G
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.122417646_122417647insG, NC_000010.10:g.124177162_124177163insG, NG_027823.1:g.48069_48070insG

Select item 14914796592.

rs1491479659 has merged into rs1254681444 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:122389894 (GRCh38)
10:124149410 (GRCh37)
Canonical SPDI:: NC_000010.11:122389892:ACA:A
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.122389894_122389895del, NC_000010.10:g.124149410_124149411del, NG_027823.1:g.20317_20318del

Select item 14914535303.

rs1491453530 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:122424171 (GRCh38)
10:124183687 (GRCh37)
Canonical SPDI:: NC_000010.11:122424169:TGT:T
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00253/30 (ALFA)
-=0.00004/1 (ExAC)
-=0.00041/31 (GnomAD_exomes)
-=0.00811/479 (GnomAD)
HGVS:: NC_000010.11:g.122424171_122424172del, NC_000010.10:g.124183687_124183688del, NG_027823.1:g.54594_54595del

Select item 14914049874.

rs1491404987 has merged into rs59343401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 10:122384623 (GRCh38)
10:124144139 (GRCh37)
Canonical SPDI:: NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4726/2367 (1000Genomes)
HGVS:: NC_000010.11:g.122384623_122384627del, NC_000010.11:g.122384624_122384627del, NC_000010.11:g.122384625_122384627del, NC_000010.11:g.122384626_122384627del, NC_000010.11:g.122384627del, NC_000010.11:g.122384627dup, NC_000010.11:g.122384626_122384627dup, NC_000010.11:g.122384625_122384627dup, NC_000010.10:g.124144139_124144143del, NC_000010.10:g.124144140_124144143del, NC_000010.10:g.124144141_124144143del, NC_000010.10:g.124144142_124144143del, NC_000010.10:g.124144143del, NC_000010.10:g.124144143dup, NC_000010.10:g.124144142_124144143dup, NC_000010.10:g.124144141_124144143dup, NG_027823.1:g.15046_15050del, NG_027823.1:g.15047_15050del, NG_027823.1:g.15048_15050del, NG_027823.1:g.15049_15050del, NG_027823.1:g.15050del, NG_027823.1:g.15050dup, NG_027823.1:g.15049_15050dup, NG_027823.1:g.15048_15050dup

Select item 14912851265.

rs1491285126 has merged into rs59343401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 10:122384623 (GRCh38)
10:124144139 (GRCh37)
Canonical SPDI:: NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:122384608:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4726/2367 (1000Genomes)
HGVS:: NC_000010.11:g.122384623_122384627del, NC_000010.11:g.122384624_122384627del, NC_000010.11:g.122384625_122384627del, NC_000010.11:g.122384626_122384627del, NC_000010.11:g.122384627del, NC_000010.11:g.122384627dup, NC_000010.11:g.122384626_122384627dup, NC_000010.11:g.122384625_122384627dup, NC_000010.10:g.124144139_124144143del, NC_000010.10:g.124144140_124144143del, NC_000010.10:g.124144141_124144143del, NC_000010.10:g.124144142_124144143del, NC_000010.10:g.124144143del, NC_000010.10:g.124144143dup, NC_000010.10:g.124144142_124144143dup, NC_000010.10:g.124144141_124144143dup, NG_027823.1:g.15046_15050del, NG_027823.1:g.15047_15050del, NG_027823.1:g.15048_15050del, NG_027823.1:g.15049_15050del, NG_027823.1:g.15050del, NG_027823.1:g.15050dup, NG_027823.1:g.15049_15050dup, NG_027823.1:g.15048_15050dup

Select item 14912729596.

rs1491272959 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:122431126 (GRCh38)
10:124190642 (GRCh37)
Canonical SPDI:: NC_000010.11:122431125:CT:
Gene:: PLEKHA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.122431126_122431127del, NC_000010.10:g.124190642_124190643del, NG_027823.1:g.61549_61550del, NM_021622.4:c.*1188_*1189del, NM_021622.5:c.*1188_*1189del, NM_001001974.2:c.*1188_*1189del, NM_001001974.4:c.*1188_*1189del, NM_001001974.3:c.*1188_*1189del, NM_001195608.1:c.*1543_*1544del, NM_001195608.2:c.*1543_*1544del, XM_017016478.3:c.*1288_*1289del, XM_017016478.2:c.*1288_*1289del, XM_017016478.1:c.*1288_*1289del, XM_017016479.3:c.*1288_*1289del, XM_017016479.2:c.*1288_*1289del, XM_017016479.1:c.*1288_*1289del, XM_024448113.2:c.*1188_*1189del, XM_024448113.1:c.*1188_*1189del, XM_011540019.2:c.*1288_*1289del, XM_011540019.1:c.*1288_*1289del, XM_011540024.2:c.*1288_*1289del, XM_011540024.1:c.*1288_*1289del, XM_024448107.2:c.*1288_*1289del, XM_024448107.1:c.*1288_*1289del, XM_024448108.2:c.*1288_*1289del, XM_024448108.1:c.*1288_*1289del, XM_011540018.2:c.*1288_*1289del, XM_011540018.1:c.*1288_*1289del, XM_024448110.2:c.*1288_*1289del, XM_024448110.1:c.*1288_*1289del, XM_011540017.2:c.*1288_*1289del, XM_011540017.1:c.*1288_*1289del, XM_011540022.2:c.*1288_*1289del, XM_011540022.1:c.*1288_*1289del, XM_017016483.2:c.*1292_*1293del, XM_017016483.1:c.*1292_*1293del, XM_017016484.2:c.*1292_*1293del, XM_017016484.1:c.*1292_*1293del, XM_017016487.2:c.*1292_*1293del, XM_017016487.1:c.*1292_*1293del, XM_024448114.2:c.*1188_*1189del, XM_024448114.1:c.*1188_*1189del, XM_024448109.2:c.*1288_*1289del, XM_024448109.1:c.*1288_*1289del, XM_017016482.2:c.*1188_*1189del, XM_017016482.1:c.*1188_*1189del, XM_011540021.2:c.*1288_*1289del, XM_011540021.1:c.*1288_*1289del, NM_001330178.2:c.*1292_*1293del, NM_001330178.1:c.*1292_*1293del, NM_001377231.1:c.*1188_*1189del, NM_001377242.1:c.*1292_*1293del, XM_047425602.1:c.*1288_*1289del, XM_047425603.1:c.*1188_*1189del, XM_047425607.1:c.*1292_*1293del, XM_047425604.1:c.*1188_*1189del, NM_001377243.1:c.*1292_*1293del, XM_047425608.1:c.*1292_*1293del, NM_001377232.1:c.*1188_*1189del, NM_001377234.1:c.*1188_*1189del, NM_001377244.1:c.*1292_*1293del, XM_047425599.1:c.*1288_*1289del, XM_047425610.1:c.*1292_*1293del, XM_047425598.1:c.*1288_*1289del, XM_047425612.1:c.*1292_*1293del, XM_047425600.1:c.*1288_*1289del, NM_001377235.1:c.*1188_*1189del, NM_001377238.1:c.*1543_*1544del, XM_047425611.1:c.*1292_*1293del, XM_047425613.1:c.*1292_*1293del, NR_165160.1:n.2681_2682del, NM_001377254.1:c.*1188_*1189del, NM_001377237.1:c.*1543_*1544del, NM_001377246.1:c.*1292_*1293del, XM_047425609.1:c.*1292_*1293del, NM_001377248.1:c.*1292_*1293del, XM_047425606.1:c.*1188_*1189del, NR_165165.1:n.2640_2641del, XM_047425605.1:c.*1188_*1189del, NR_165161.1:n.2629_2630del, NM_001377240.1:c.*1292_*1293del, NM_001377251.1:c.*1292_*1293del, NM_001377245.1:c.*1292_*1293del, NM_001377230.1:c.*1188_*1189del, NM_001377249.1:c.*1188_*1189del, NM_001377256.1:c.*1292_*1293del, NM_001377241.1:c.*1292_*1293del, NM_001377247.1:c.*1188_*1189del, NM_001377250.1:c.*1292_*1293del, NR_165164.1:n.2546_2547del, NM_001377255.1:c.*1292_*1293del, NR_165162.1:n.2494_2495del, NM_001377257.1:c.*1292_*1293del, NM_001377258.1:c.*1535_*1536del, NM_001377253.1:c.*1188_*1189del, NM_001377252.1:c.*1188_*1189del

Select item 14912389987.

rs1491238998 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:122423110 (GRCh38)
10:124182626 (GRCh37)
Canonical SPDI:: NC_000010.11:122423109:AT:
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.004127/543 (GnomAD)
HGVS:: NC_000010.11:g.122423110_122423111del, NC_000010.10:g.124182626_124182627del, NG_027823.1:g.53533_53534del

Select item 14912124468.

rs1491212446 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:122425713 (GRCh38)
10:124185229 (GRCh37)
Canonical SPDI:: NC_000010.11:122425712:CA:
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.122425713_122425714del, NC_000010.10:g.124185229_124185230del, NG_027823.1:g.56136_56137del

Select item 14911631059.

rs1491163105 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:122424193 (GRCh38)
10:124183709 (GRCh37)
Canonical SPDI:: NC_000010.11:122424192:TG:
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.122424193_122424194del, NC_000010.10:g.124183709_124183710del, NG_027823.1:g.54616_54617del

Select item 149110798810.

rs1491107988 has merged into rs34058512 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:122424182 (GRCh38)
10:124183698 (GRCh37)
Canonical SPDI:: NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122424171:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.122/470 (ALSPAC)
-=0.1324/491 (TWINSUK)
HGVS:: NC_000010.11:g.122424182_122424193del, NC_000010.11:g.122424183_122424193del, NC_000010.11:g.122424184_122424193del, NC_000010.11:g.122424185_122424193del, NC_000010.11:g.122424186_122424193del, NC_000010.11:g.122424187_122424193del, NC_000010.11:g.122424188_122424193del, NC_000010.11:g.122424189_122424193del, NC_000010.11:g.122424190_122424193del, NC_000010.11:g.122424191_122424193del, NC_000010.11:g.122424192_122424193del, NC_000010.11:g.122424193del, NC_000010.11:g.122424193dup, NC_000010.11:g.122424192_122424193dup, NC_000010.11:g.122424191_122424193dup, NC_000010.11:g.122424190_122424193dup, NC_000010.11:g.122424189_122424193dup, NC_000010.11:g.122424188_122424193dup, NC_000010.11:g.122424187_122424193dup, NC_000010.11:g.122424186_122424193dup, NC_000010.11:g.122424182_122424193dup, NC_000010.11:g.122424179_122424193dup, NC_000010.11:g.122424193_122424194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124183698_124183709del, NC_000010.10:g.124183699_124183709del, NC_000010.10:g.124183700_124183709del, NC_000010.10:g.124183701_124183709del, NC_000010.10:g.124183702_124183709del, NC_000010.10:g.124183703_124183709del, NC_000010.10:g.124183704_124183709del, NC_000010.10:g.124183705_124183709del, NC_000010.10:g.124183706_124183709del, NC_000010.10:g.124183707_124183709del, NC_000010.10:g.124183708_124183709del, NC_000010.10:g.124183709del, NC_000010.10:g.124183709dup, NC_000010.10:g.124183708_124183709dup, NC_000010.10:g.124183707_124183709dup, NC_000010.10:g.124183706_124183709dup, NC_000010.10:g.124183705_124183709dup, NC_000010.10:g.124183704_124183709dup, NC_000010.10:g.124183703_124183709dup, NC_000010.10:g.124183702_124183709dup, NC_000010.10:g.124183698_124183709dup, NC_000010.10:g.124183695_124183709dup, NC_000010.10:g.124183709_124183710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.54605_54616del, NG_027823.1:g.54606_54616del, NG_027823.1:g.54607_54616del, NG_027823.1:g.54608_54616del, NG_027823.1:g.54609_54616del, NG_027823.1:g.54610_54616del, NG_027823.1:g.54611_54616del, NG_027823.1:g.54612_54616del, NG_027823.1:g.54613_54616del, NG_027823.1:g.54614_54616del, NG_027823.1:g.54615_54616del, NG_027823.1:g.54616del, NG_027823.1:g.54616dup, NG_027823.1:g.54615_54616dup, NG_027823.1:g.54614_54616dup, NG_027823.1:g.54613_54616dup, NG_027823.1:g.54612_54616dup, NG_027823.1:g.54611_54616dup, NG_027823.1:g.54610_54616dup, NG_027823.1:g.54609_54616dup, NG_027823.1:g.54605_54616dup, NG_027823.1:g.54602_54616dup, NG_027823.1:g.54616_54617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149108435911.

rs1491084359 has merged into rs58485855 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTCTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:122383321 (GRCh38)
10:124142837 (GRCh37)
Canonical SPDI:: NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:122383313:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.3792/1899 (1000Genomes)
HGVS:: NC_000010.11:g.122383321_122383325del, NC_000010.11:g.122383324_122383325del, NC_000010.11:g.122383325del, NC_000010.11:g.122383325dup, NC_000010.11:g.122383314_122383325TTTTTTTTTTTTTCTTTTTTTTTT[2]TTT[1], NC_000010.11:g.122383324_122383325dup, NC_000010.11:g.122383323_122383325dup, NC_000010.11:g.122383322_122383325dup, NC_000010.11:g.122383321_122383325dup, NC_000010.11:g.122383320_122383325dup, NC_000010.11:g.122383319_122383325dup, NC_000010.11:g.122383318_122383325dup, NC_000010.11:g.122383315_122383325dup, NC_000010.11:g.122383314_122383325dup, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383314_122383325T[31]GTTTTTTTTTTTTT[1], NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.122383325_122383326insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142837_124142841del, NC_000010.10:g.124142840_124142841del, NC_000010.10:g.124142841del, NC_000010.10:g.124142841dup, NC_000010.10:g.124142830_124142841TTTTTTTTTTTTTCTTTTTTTTTT[2]TTT[1], NC_000010.10:g.124142840_124142841dup, NC_000010.10:g.124142839_124142841dup, NC_000010.10:g.124142838_124142841dup, NC_000010.10:g.124142837_124142841dup, NC_000010.10:g.124142836_124142841dup, NC_000010.10:g.124142835_124142841dup, NC_000010.10:g.124142834_124142841dup, NC_000010.10:g.124142831_124142841dup, NC_000010.10:g.124142830_124142841dup, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142830_124142841T[31]GTTTTTTTTTTTTT[1], NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.124142841_124142842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13744_13748del, NG_027823.1:g.13747_13748del, NG_027823.1:g.13748del, NG_027823.1:g.13748dup, NG_027823.1:g.13737_13748TTTTTTTTTTTTTCTTTTTTTTTT[2]TTT[1], NG_027823.1:g.13747_13748dup, NG_027823.1:g.13746_13748dup, NG_027823.1:g.13745_13748dup, NG_027823.1:g.13744_13748dup, NG_027823.1:g.13743_13748dup, NG_027823.1:g.13742_13748dup, NG_027823.1:g.13741_13748dup, NG_027823.1:g.13738_13748dup, NG_027823.1:g.13737_13748dup, NG_027823.1:g.13748_13749insTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13737_13748T[31]GTTTTTTTTTTTTT[1], NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027823.1:g.13748_13749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149100061912.

rs1491000619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:122420991 (GRCh38)
10:124180507 (GRCh37)
Canonical SPDI:: NC_000010.11:122420990:A:G
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.122420991A>G, NC_000010.10:g.124180507A>G, NG_027823.1:g.51414A>G

Select item 149096331213.

rs1490963312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:122381027 (GRCh38)
10:124140543 (GRCh37)
Canonical SPDI:: NC_000010.11:122381026:T:A
Gene:: PLEKHA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122381027T>A, NC_000010.10:g.124140543T>A, NG_027823.1:g.11450T>A

Select item 149093732914.

rs1490937329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122378844 (GRCh38)
10:124138360 (GRCh37)
Canonical SPDI:: NC_000010.11:122378843:C:T
Gene:: PLEKHA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0078/35 (ALFA)
T=0.0069/31 (Estonian)
HGVS:: NC_000010.11:g.122378844C>T, NC_000010.10:g.124138360C>T, NG_027823.1:g.9267C>T

Select item 149082983515.

rs1490829835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:122396524 (GRCh38)
10:124156040 (GRCh37)
Canonical SPDI:: NC_000010.11:122396523:A:G
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.122396524A>G, NC_000010.10:g.124156040A>G, NG_027823.1:g.26947A>G

Select item 149081745216.

rs1490817452 [Homo sapiens]

Variant type:: DEL
Alleles:: TGTC>- [Show Flanks]
Chromosome:: 10:122411870 (GRCh38)
10:124171386 (GRCh37)
Canonical SPDI:: NC_000010.11:122411869:TGTC:
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.122411870_122411873del, NC_000010.10:g.124171386_124171389del, NG_027823.1:g.42293_42296del

Select item 149079112517.

rs1490791125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122428278 (GRCh38)
10:124187794 (GRCh37)
Canonical SPDI:: NC_000010.11:122428277:G:A
Gene:: PLEKHA1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122428278G>A, NC_000010.10:g.124187794G>A, NG_027823.1:g.58701G>A, NM_001195608.1:c.903G>A, NM_001195608.2:c.903G>A, XM_017016478.3:c.968G>A, XM_017016478.2:c.968G>A, XM_017016478.1:c.968G>A, XM_017016479.3:c.968G>A, XM_017016479.2:c.968G>A, XM_017016479.1:c.968G>A, XM_011540019.2:c.968G>A, XM_011540019.1:c.968G>A, XM_011540024.2:c.968G>A, XM_011540024.1:c.968G>A, XM_024448107.2:c.968G>A, XM_024448107.1:c.968G>A, XM_024448108.2:c.968G>A, XM_024448108.1:c.968G>A, XM_011540018.2:c.968G>A, XM_011540018.1:c.968G>A, XM_024448110.2:c.968G>A, XM_024448110.1:c.968G>A, XM_011540017.2:c.968G>A, XM_011540017.1:c.968G>A, XM_011540022.2:c.968G>A, XM_011540022.1:c.968G>A, XM_017016483.2:c.903G>A, XM_017016483.1:c.903G>A, XM_017016484.2:c.903G>A, XM_017016484.1:c.903G>A, XM_017016487.2:c.903G>A, XM_017016487.1:c.903G>A, XM_024448109.2:c.968G>A, XM_024448109.1:c.968G>A, XM_011540021.2:c.968G>A, XM_011540021.1:c.968G>A, NM_001330178.2:c.903G>A, NM_001330178.1:c.903G>A, NM_001377242.1:c.903G>A, XM_047425602.1:c.968G>A, XM_047425607.1:c.903G>A, NM_001377243.1:c.903G>A, XM_047425608.1:c.903G>A, NM_001377244.1:c.903G>A, XM_047425599.1:c.968G>A, XM_047425610.1:c.903G>A, XM_047425598.1:c.968G>A, XM_047425612.1:c.903G>A, XM_047425600.1:c.968G>A, NM_001377238.1:c.903G>A, XM_047425611.1:c.903G>A, XM_047425613.1:c.903G>A, NR_165160.1:n.1140G>A, NM_001377237.1:c.903G>A, NM_001377246.1:c.903G>A, XM_047425609.1:c.903G>A, NM_001377248.1:c.921G>A, NR_165161.1:n.1088G>A, NM_001377240.1:c.903G>A, NM_001377251.1:c.870G>A, NM_001377245.1:c.903G>A, NM_001377256.1:c.777G>A, NM_001377241.1:c.903G>A, NM_001377250.1:c.894G>A, NM_001377255.1:c.759G>A, NM_001377257.1:c.759G>A, NP_001182537.1:p.Met301Ile, XP_016871967.1:p.Cys323Tyr, XP_016871968.1:p.Cys323Tyr, XP_011538321.1:p.Cys323Tyr, XP_011538326.1:p.Cys323Tyr, XP_024303875.1:p.Cys323Tyr, XP_024303876.1:p.Cys323Tyr, XP_011538320.1:p.Cys323Tyr, XP_024303878.1:p.Cys323Tyr, XP_011538319.1:p.Cys323Tyr, XP_011538324.1:p.Cys323Tyr, XP_016871972.1:p.Met301Ile, XP_016871973.1:p.Met301Ile, XP_016871976.1:p.Met301Ile, XP_024303877.1:p.Cys323Tyr, XP_011538323.1:p.Cys323Tyr, NP_001317107.1:p.Met301Ile, NP_001364171.1:p.Met301Ile, XP_047281558.1:p.Cys323Tyr, XP_047281563.1:p.Met301Ile, NP_001364172.1:p.Met301Ile, XP_047281564.1:p.Met301Ile, NP_001364173.1:p.Met301Ile, XP_047281555.1:p.Cys323Tyr, XP_047281566.1:p.Met301Ile, XP_047281554.1:p.Cys323Tyr, XP_047281568.1:p.Met301Ile, XP_047281556.1:p.Cys323Tyr, NP_001364167.1:p.Met301Ile, XP_047281567.1:p.Met301Ile, XP_047281569.1:p.Met301Ile, NP_001364166.1:p.Met301Ile, NP_001364175.1:p.Met301Ile, XP_047281565.1:p.Met301Ile, NP_001364177.1:p.Met307Ile, NP_001364169.1:p.Met301Ile, NP_001364180.1:p.Met290Ile, NP_001364174.1:p.Met301Ile, NP_001364185.1:p.Met259Ile, NP_001364170.1:p.Met301Ile, NP_001364179.1:p.Met298Ile, NP_001364184.1:p.Met253Ile, NP_001364186.1:p.Met253Ile

Select item 149075395918.

rs1490753959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:122399820 (GRCh38)
10:124159336 (GRCh37)
Canonical SPDI:: NC_000010.11:122399819:C:A,NC_000010.11:122399819:C:T
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000010.11:g.122399820C>A, NC_000010.11:g.122399820C>T, NC_000010.10:g.124159336C>A, NC_000010.10:g.124159336C>T, NG_027823.1:g.30243C>A, NG_027823.1:g.30243C>T

Select item 149074321319.

rs1490743213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:122429120 (GRCh38)
10:124188636 (GRCh37)
Canonical SPDI:: NC_000010.11:122429119:A:T
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.122429120A>T, NC_000010.10:g.124188636A>T, NG_027823.1:g.59543A>T

Select item 149071819720.

rs1490718197 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:122397536 (GRCh38)
10:124157053 (GRCh37)
Canonical SPDI:: NC_000010.11:122397536:T:TT
Gene:: PLEKHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122397537dup, NC_000010.10:g.124157053dup, NG_027823.1:g.27960dup

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