SNP Links for Gene (Select 28227) - SNP

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Select item 14915823371.

rs1491582337 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: Y:379090 (GRCh38)
Y:289825 (GRCh37)
Canonical SPDI:: NC_000024.10:379089:CG:
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/4 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000024.10:g.379090_379091del, NC_000024.9:g.289825_289826del, NG_013257.1:g.12802_12803del, NC_000023.11:g.379090_379091del, NC_000023.10:g.339825_339826del, NT_187634.1:g.62443_62444del, NT_187667.1:g.51583_51584del

Select item 14915648622.

rs1491564862 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: Y:346319 (GRCh38)
Y:257054 (GRCh37)
Canonical SPDI:: NC_000024.10:346317:CAC:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.346319_346320del, NC_000024.9:g.257054_257055del, NG_013257.1:g.45574_45575del, NC_000023.11:g.346319_346320del, NC_000023.10:g.307054_307055del, NT_187634.1:g.29465_29466del, NT_187667.1:g.18839_18840del

Select item 14915615303.

rs1491561530 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAGCGAGCCCCAC [Show Flanks]
Chromosome:: Y:356961 (GRCh38)
Y:267697 (GRCh37)
Canonical SPDI:: NC_000024.10:356961::CAGCGAGCCCCAC
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CAGCGAGCCCCAC=0.00007/1 (TOMMO)
HGVS:: NC_000024.10:g.356961_356962insCAGCGAGCCCCAC, NC_000024.9:g.267696_267697insCAGCGAGCCCCAC, NG_013257.1:g.34931_34932insGTGGGGCTCGCTG, NC_000023.11:g.356961_356962insCAGCGAGCCCCAC, NC_000023.10:g.317696_317697insCAGCGAGCCCCAC, NT_187634.1:g.40314_40315insCAGCGAGCCCCAC, NT_187667.1:g.29454_29455insCAGCGAGCCCCAC

Select item 14915540284.

rs1491554028 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: Y:340745 (GRCh38)
Y:251480 (GRCh37)
Canonical SPDI:: NC_000024.10:340744:AT:
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00379/51 (ALFA)
-=0.000137/16 (ExAC)
-=0.000473/66 (GnomAD)
-=0.001062/18 (TOMMO)
HGVS:: NC_000024.10:g.340745_340746del, NC_000024.9:g.251480_251481del, NG_013257.1:g.51147_51148del, NC_000023.11:g.340745_340746del, NC_000023.10:g.301480_301481del, NT_187634.1:g.23918_23919del

Select item 14915359535.

rs1491535953 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: Y:340105 (GRCh38)
Y:250840 (GRCh37)
Canonical SPDI:: NC_000024.10:340103:GTG:G
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00076/9 (ALFA)
HGVS:: NC_000024.10:g.340105_340106del, NC_000024.9:g.250840_250841del, NG_013257.1:g.51788_51789del, NC_000023.11:g.340105_340106del, NC_000023.10:g.300840_300841del, NT_187634.1:g.23277_23278del, NT_187667.1:g.12963_12964del

Select item 14915230256.

rs1491523025 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: Y:335056 (GRCh38)
Y:245791 (GRCh37)
Canonical SPDI:: NC_000024.10:335055:CA:
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000177/3 (TOMMO)
HGVS:: NC_000024.10:g.335056_335057del, NC_000024.9:g.245791_245792del, NG_013257.1:g.56836_56837del, NC_000023.11:g.335056_335057del, NC_000023.10:g.295791_295792del, NT_187634.1:g.18252_18253del, NT_187667.1:g.7876_7877del, XM_011546177.4:c.*821_*822del, XM_011546177.3:c.*821_*822del, XM_011546177.2:c.*821_*822del, XM_011545630.4:c.*821_*822del, XM_011545630.3:c.*821_*822del, XM_011545630.2:c.*821_*822del, XM_047442002.1:c.1500_1501del, XM_047442005.1:c.1101_1102del, XM_047442003.1:c.1101_1102del, XM_047442004.1:c.1101_1102del, XM_047442001.1:c.1584_1585del, XM_047442724.1:c.1500_1501del, XM_047442727.1:c.1101_1102del, XM_047442725.1:c.1101_1102del, XM_047442726.1:c.1101_1102del, XM_047442723.1:c.1584_1585del, XM_047442954.1:c.1500_1501del, XM_047442890.1:c.*821_*822del, XM_047442958.1:c.1101_1102del, XM_047442953.1:c.1584_1585del, XM_047442959.1:c.1101_1102del, XP_047298680.1:p.Leu503fs, XP_047298683.1:p.Leu370fs, XP_047298681.1:p.Leu370fs, XP_047298682.1:p.Leu370fs, XP_047298679.1:p.Leu531fs

Select item 14914769147.

rs1491476914 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: Y:341710 (GRCh38)
Y:252446 (GRCh37)
Canonical SPDI:: NC_000024.10:341710::A,NC_000024.10:341710::T
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000036/2 (GnomAD)
HGVS:: NC_000024.10:g.341710_341711insA, NC_000024.10:g.341710_341711insT, NC_000024.9:g.252445_252446insA, NC_000024.9:g.252445_252446insT, NG_013257.1:g.50182_50183insT, NG_013257.1:g.50182_50183insA, NC_000023.11:g.341710_341711insA, NC_000023.11:g.341710_341711insT, NC_000023.10:g.302445_302446insA, NC_000023.10:g.302445_302446insT, NT_187634.1:g.24883_24884insA, NT_187634.1:g.24883_24884insT, NT_187667.1:g.14656dup, NT_187667.1:g.14656_14657insT, NM_199326.1:c.-427_-426insT, NM_199326.1:c.-427_-426insA

Select item 14914733848.

rs1491473384 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: Y:384982 (GRCh38)
Y:295717 (GRCh37)
Canonical SPDI:: NC_000024.10:384981:CA:
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000024.10:g.384982_384983del, NC_000024.9:g.295717_295718del, NG_013257.1:g.6910_6911del, NC_000023.11:g.384982_384983del, NC_000023.10:g.345717_345718del, NT_187634.1:g.68335_68336del, NT_187667.1:g.57475_57476del

Select item 14914494529.

rs1491449452 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: Y:356961 (GRCh38)
Y:267696 (GRCh37)
Canonical SPDI:: NC_000024.10:356960:AG:
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.356961_356962del, NC_000024.9:g.267696_267697del, NG_013257.1:g.34931_34932del, NC_000023.11:g.356961_356962del, NC_000023.10:g.317696_317697del, NT_187634.1:g.40314_40315del, NT_187667.1:g.29454_29455del

Select item 149142698210.

rs1491426982 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AGGAGA [Show Flanks]
Chromosome:: Y:340104 (GRCh38)
Y:250840 (GRCh37)
Canonical SPDI:: NC_000024.10:340104::A,NC_000024.10:340104::AGGAGA
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGAGA=0.00025/3 (ALFA)
HGVS:: NC_000024.10:g.340104_340105insA, NC_000024.10:g.340104_340105insAGGAGA, NC_000024.9:g.250839_250840insA, NC_000024.9:g.250839_250840insAGGAGA, NG_013257.1:g.51788_51789insT, NG_013257.1:g.51788_51789insTCTCCT, NC_000023.11:g.340104_340105insA, NC_000023.11:g.340104_340105insAGGAGA, NC_000023.10:g.300839_300840insA, NC_000023.10:g.300839_300840insAGGAGA, NT_187634.1:g.23276_23277insA, NT_187634.1:g.23276_23277insAGGAGA, NT_187667.1:g.12962_12963insA, NT_187667.1:g.12962_12963insAGGAGA

Select item 149141472311.

rs1491414723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: Y:335056 (GRCh38)
Y:245792 (GRCh37)
Canonical SPDI:: NC_000024.10:335056:A:AA
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.335057dup, NC_000024.9:g.245792dup, NG_013257.1:g.56836dup, NC_000023.11:g.335057dup, NC_000023.10:g.295792dup, NT_187634.1:g.18253dup, NT_187667.1:g.7877dup, XM_011546177.4:c.*821dup, XM_011546177.3:c.*821dup, XM_011546177.2:c.*821dup, XM_011545630.4:c.*821dup, XM_011545630.3:c.*821dup, XM_011545630.2:c.*821dup, XM_047442002.1:c.1500dup, XM_047442005.1:c.1101dup, XM_047442003.1:c.1101dup, XM_047442004.1:c.1101dup, XM_047442001.1:c.1584dup, XM_047442724.1:c.1500dup, XM_047442727.1:c.1101dup, XM_047442725.1:c.1101dup, XM_047442726.1:c.1101dup, XM_047442723.1:c.1584dup, XM_047442954.1:c.1500dup, XM_047442890.1:c.*821dup, XM_047442958.1:c.1101dup, XM_047442953.1:c.1584dup, XM_047442959.1:c.1101dup, XP_047298680.1:p.Glu501Ter, XP_047298683.1:p.Glu368Ter, XP_047298681.1:p.Glu368Ter, XP_047298682.1:p.Glu368Ter, XP_047298679.1:p.Glu529Ter

Select item 149139635712.

rs1491396357 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: Y:340133 (GRCh38)
Y:250868 (GRCh37)
Canonical SPDI:: NC_000024.10:340129:GAGAG:GAG
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAG=0.00051/6 (ALFA)
HGVS:: NC_000024.10:g.340131AG[1], NC_000024.9:g.250866AG[1], NG_013257.1:g.51760TC[1], NC_000023.11:g.340131AG[1], NC_000023.10:g.300866AG[1], NT_187634.1:g.23304AG[1], NT_187667.1:g.12989AG[1]

Select item 149135624113.

rs1491356241 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: Y:339451 (GRCh38)
Y:250186 (GRCh37)
Canonical SPDI:: NC_000024.10:339450:AG:
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.000416/2 (1000Genomes)
-=0.000752/199 (TOPMED)
HGVS:: NC_000024.10:g.339451_339452del, NC_000024.9:g.250186_250187del, NG_013257.1:g.52441_52442del, NC_000023.11:g.339451_339452del, NC_000023.10:g.300186_300187del, NT_187634.1:g.22647_22648del, NT_187667.1:g.12277_12278del

Select item 149133772814.

rs1491337728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: Y:339451 (GRCh38)
Y:250187 (GRCh37)
Canonical SPDI:: NC_000024.10:339451:GGGG:GGGGGG
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000024.10:g.339454_339455dup, NC_000024.9:g.250189_250190dup, NG_013257.1:g.52440_52441dup, NC_000023.11:g.339454_339455dup, NC_000023.10:g.300189_300190dup, NT_187634.1:g.22650_22651dup, NT_187667.1:g.12280_12281dup

Select item 149129202515.

rs1491292025 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACA,ACAAT [Show Flanks]
Chromosome:: Y:363523 (GRCh38)
Y:274259 (GRCh37)
Canonical SPDI:: NC_000024.10:363523::ACA,NC_000024.10:363523::ACAAT
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000024.10:g.363523_363524insACA, NC_000024.10:g.363523_363524insACAAT, NC_000024.9:g.274258_274259insACA, NC_000024.9:g.274258_274259insACAAT, NG_013257.1:g.28369_28370insTGT, NG_013257.1:g.28369_28370insATTGT, NC_000023.11:g.363523_363524insACA, NC_000023.11:g.363523_363524insACAAT, NC_000023.10:g.324258_324259insACA, NC_000023.10:g.324258_324259insACAAT, NT_187634.1:g.46876_46877insACA, NT_187634.1:g.46876_46877insACAAT, NT_187667.1:g.36016_36017insACA, NT_187667.1:g.36016_36017insACAAT

Select item 149126129316.

rs1491261293 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: Y:380786 (GRCh38)
Y:291521 (GRCh37)
Canonical SPDI:: NC_000024.10:380785:CA:
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000024.10:g.380786_380787del, NC_000024.9:g.291521_291522del, NG_013257.1:g.11106_11107del, NC_000023.11:g.380786_380787del, NC_000023.10:g.341521_341522del, NT_187634.1:g.64139_64140del, NT_187667.1:g.53279_53280del

Select item 149125054217.

rs1491250542 has merged into rs1054118917 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: Y:380793 (GRCh38)
Y:291528 (GRCh37)
Canonical SPDI:: NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:380786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000024.10:g.380793_380811del, NC_000024.10:g.380796_380811del, NC_000024.10:g.380798_380811del, NC_000024.10:g.380799_380811del, NC_000024.10:g.380800_380811del, NC_000024.10:g.380802_380811del, NC_000024.10:g.380803_380811del, NC_000024.10:g.380804_380811del, NC_000024.10:g.380805_380811del, NC_000024.10:g.380806_380811del, NC_000024.10:g.380807_380811del, NC_000024.10:g.380808_380811del, NC_000024.10:g.380809_380811del, NC_000024.10:g.380810_380811del, NC_000024.10:g.380811del, NC_000024.10:g.380811dup, NC_000024.10:g.380810_380811dup, NC_000024.10:g.380809_380811dup, NC_000024.10:g.380808_380811dup, NC_000024.10:g.380807_380811dup, NC_000024.10:g.380806_380811dup, NC_000024.10:g.380805_380811dup, NC_000024.10:g.380800_380811dup, NC_000024.10:g.380811_380812insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000024.9:g.291528_291546del, NC_000024.9:g.291531_291546del, NC_000024.9:g.291533_291546del, NC_000024.9:g.291534_291546del, NC_000024.9:g.291535_291546del, NC_000024.9:g.291537_291546del, NC_000024.9:g.291538_291546del, NC_000024.9:g.291539_291546del, NC_000024.9:g.291540_291546del, NC_000024.9:g.291541_291546del, NC_000024.9:g.291542_291546del, NC_000024.9:g.291543_291546del, NC_000024.9:g.291544_291546del, NC_000024.9:g.291545_291546del, NC_000024.9:g.291546del, NC_000024.9:g.291546dup, NC_000024.9:g.291545_291546dup, NC_000024.9:g.291544_291546dup, NC_000024.9:g.291543_291546dup, NC_000024.9:g.291542_291546dup, NC_000024.9:g.291541_291546dup, NC_000024.9:g.291540_291546dup, NC_000024.9:g.291535_291546dup, NC_000024.9:g.291546_291547insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013257.1:g.11088_11106del, NG_013257.1:g.11091_11106del, NG_013257.1:g.11093_11106del, NG_013257.1:g.11094_11106del, NG_013257.1:g.11095_11106del, NG_013257.1:g.11097_11106del, NG_013257.1:g.11098_11106del, NG_013257.1:g.11099_11106del, NG_013257.1:g.11100_11106del, NG_013257.1:g.11101_11106del, NG_013257.1:g.11102_11106del, NG_013257.1:g.11103_11106del, NG_013257.1:g.11104_11106del, NG_013257.1:g.11105_11106del, NG_013257.1:g.11106del, NG_013257.1:g.11106dup, NG_013257.1:g.11105_11106dup, NG_013257.1:g.11104_11106dup, NG_013257.1:g.11103_11106dup, NG_013257.1:g.11102_11106dup, NG_013257.1:g.11101_11106dup, NG_013257.1:g.11100_11106dup, NG_013257.1:g.11095_11106dup, NG_013257.1:g.11106_11107insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.380793_380811del, NC_000023.11:g.380796_380811del, NC_000023.11:g.380798_380811del, NC_000023.11:g.380799_380811del, NC_000023.11:g.380800_380811del, NC_000023.11:g.380802_380811del, NC_000023.11:g.380803_380811del, NC_000023.11:g.380804_380811del, NC_000023.11:g.380805_380811del, NC_000023.11:g.380806_380811del, NC_000023.11:g.380807_380811del, NC_000023.11:g.380808_380811del, NC_000023.11:g.380809_380811del, NC_000023.11:g.380810_380811del, NC_000023.11:g.380811del, NC_000023.11:g.380811dup, NC_000023.11:g.380810_380811dup, NC_000023.11:g.380809_380811dup, NC_000023.11:g.380808_380811dup, NC_000023.11:g.380807_380811dup, NC_000023.11:g.380806_380811dup, NC_000023.11:g.380805_380811dup, NC_000023.11:g.380800_380811dup, NC_000023.11:g.380811_380812insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.341528_341546del, NC_000023.10:g.341531_341546del, NC_000023.10:g.341533_341546del, NC_000023.10:g.341534_341546del, NC_000023.10:g.341535_341546del, NC_000023.10:g.341537_341546del, NC_000023.10:g.341538_341546del, NC_000023.10:g.341539_341546del, NC_000023.10:g.341540_341546del, NC_000023.10:g.341541_341546del, NC_000023.10:g.341542_341546del, NC_000023.10:g.341543_341546del, NC_000023.10:g.341544_341546del, NC_000023.10:g.341545_341546del, NC_000023.10:g.341546del, NC_000023.10:g.341546dup, NC_000023.10:g.341545_341546dup, NC_000023.10:g.341544_341546dup, NC_000023.10:g.341543_341546dup, NC_000023.10:g.341542_341546dup, NC_000023.10:g.341541_341546dup, NC_000023.10:g.341540_341546dup, NC_000023.10:g.341535_341546dup, NC_000023.10:g.341546_341547insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187634.1:g.64146_64164del, NT_187634.1:g.64149_64164del, NT_187634.1:g.64151_64164del, NT_187634.1:g.64152_64164del, NT_187634.1:g.64153_64164del, NT_187634.1:g.64155_64164del, NT_187634.1:g.64156_64164del, NT_187634.1:g.64157_64164del, NT_187634.1:g.64158_64164del, NT_187634.1:g.64159_64164del, NT_187634.1:g.64160_64164del, NT_187634.1:g.64161_64164del, NT_187634.1:g.64162_64164del, NT_187634.1:g.64163_64164del, NT_187634.1:g.64164del, NT_187634.1:g.64164dup, NT_187634.1:g.64163_64164dup, NT_187634.1:g.64162_64164dup, NT_187634.1:g.64161_64164dup, NT_187634.1:g.64160_64164dup, NT_187634.1:g.64159_64164dup, NT_187634.1:g.64158_64164dup, NT_187634.1:g.64153_64164dup, NT_187634.1:g.64164_64165insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187667.1:g.53286_53304del, NT_187667.1:g.53289_53304del, NT_187667.1:g.53291_53304del, NT_187667.1:g.53292_53304del, NT_187667.1:g.53293_53304del, NT_187667.1:g.53295_53304del, NT_187667.1:g.53296_53304del, NT_187667.1:g.53297_53304del, NT_187667.1:g.53298_53304del, NT_187667.1:g.53299_53304del, NT_187667.1:g.53300_53304del, NT_187667.1:g.53301_53304del, NT_187667.1:g.53302_53304del, NT_187667.1:g.53303_53304del, NT_187667.1:g.53304del, NT_187667.1:g.53304dup, NT_187667.1:g.53303_53304dup, NT_187667.1:g.53302_53304dup, NT_187667.1:g.53301_53304dup, NT_187667.1:g.53300_53304dup, NT_187667.1:g.53299_53304dup, NT_187667.1:g.53298_53304dup, NT_187667.1:g.53293_53304dup, NT_187667.1:g.53304_53305insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149124890918.

rs1491248909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: Y:364522 (GRCh38)
Y:275258 (GRCh37)
Canonical SPDI:: NC_000024.10:364522:A:ACA
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.00014/5 (GnomAD)
HGVS:: NC_000024.10:g.364523_364524insCA, NC_000024.9:g.275258_275259insCA, NG_013257.1:g.27370_27371insGT, NC_000023.11:g.364523_364524insCA, NC_000023.10:g.325258_325259insCA, NT_187634.1:g.47876_47877insCA, NT_187667.1:g.37016_37017insCA

Select item 149124888619.

rs1491248886 has merged into rs59781955 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: Y:376209 (GRCh38)
Y:286944 (GRCh37)
Canonical SPDI:: NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:376198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.090189/296 (1000Genomes)
-=0.093056/24631 (TOPMED)
HGVS:: NC_000024.10:g.376209_376214del, NC_000024.10:g.376210_376214del, NC_000024.10:g.376211_376214del, NC_000024.10:g.376212_376214del, NC_000024.10:g.376213_376214del, NC_000024.10:g.376214del, NC_000024.10:g.376214dup, NC_000024.10:g.376213_376214dup, NC_000024.10:g.376209_376214dup, NC_000024.9:g.286944_286949del, NC_000024.9:g.286945_286949del, NC_000024.9:g.286946_286949del, NC_000024.9:g.286947_286949del, NC_000024.9:g.286948_286949del, NC_000024.9:g.286949del, NC_000024.9:g.286949dup, NC_000024.9:g.286948_286949dup, NC_000024.9:g.286944_286949dup, NG_013257.1:g.15689_15694del, NG_013257.1:g.15690_15694del, NG_013257.1:g.15691_15694del, NG_013257.1:g.15692_15694del, NG_013257.1:g.15693_15694del, NG_013257.1:g.15694del, NG_013257.1:g.15694dup, NG_013257.1:g.15693_15694dup, NG_013257.1:g.15689_15694dup, NC_000023.11:g.376209_376214del, NC_000023.11:g.376210_376214del, NC_000023.11:g.376211_376214del, NC_000023.11:g.376212_376214del, NC_000023.11:g.376213_376214del, NC_000023.11:g.376214del, NC_000023.11:g.376214dup, NC_000023.11:g.376213_376214dup, NC_000023.11:g.376209_376214dup, NC_000023.10:g.336944_336949del, NC_000023.10:g.336945_336949del, NC_000023.10:g.336946_336949del, NC_000023.10:g.336947_336949del, NC_000023.10:g.336948_336949del, NC_000023.10:g.336949del, NC_000023.10:g.336949dup, NC_000023.10:g.336948_336949dup, NC_000023.10:g.336944_336949dup, NT_187634.1:g.59562_59567del, NT_187634.1:g.59563_59567del, NT_187634.1:g.59564_59567del, NT_187634.1:g.59565_59567del, NT_187634.1:g.59566_59567del, NT_187634.1:g.59567del, NT_187634.1:g.59567dup, NT_187634.1:g.59566_59567dup, NT_187634.1:g.59562_59567dup, NT_187667.1:g.48702_48707del, NT_187667.1:g.48703_48707del, NT_187667.1:g.48704_48707del, NT_187667.1:g.48705_48707del, NT_187667.1:g.48706_48707del, NT_187667.1:g.48707del, NT_187667.1:g.48707dup, NT_187667.1:g.48706_48707dup, NT_187667.1:g.48702_48707dup

Select item 149123830120.

rs1491238301 has merged into rs1177610760 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: Y:364527 (GRCh38)
Y:275262 (GRCh37)
Canonical SPDI:: NC_000024.10:364521:AAAAAAAAAAAAA:AAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:364521:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP2R3B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000024.10:g.364527_364534del, NC_000024.10:g.364532_364534del, NC_000024.10:g.364533_364534del, NC_000024.10:g.364534del, NC_000024.10:g.364534dup, NC_000024.10:g.364533_364534dup, NC_000024.10:g.364532_364534dup, NC_000024.10:g.364530_364534dup, NC_000024.10:g.364534_364535insAAAAAAAAAAAAAAAA, NC_000024.10:g.364534_364535insAAAAAAAAAAAAAAAAA, NC_000024.9:g.275262_275269del, NC_000024.9:g.275267_275269del, NC_000024.9:g.275268_275269del, NC_000024.9:g.275269del, NC_000024.9:g.275269dup, NC_000024.9:g.275268_275269dup, NC_000024.9:g.275267_275269dup, NC_000024.9:g.275265_275269dup, NC_000024.9:g.275269_275270insAAAAAAAAAAAAAAAA, NC_000024.9:g.275269_275270insAAAAAAAAAAAAAAAAA, NG_013257.1:g.27364_27371del, NG_013257.1:g.27369_27371del, NG_013257.1:g.27370_27371del, NG_013257.1:g.27371del, NG_013257.1:g.27371dup, NG_013257.1:g.27370_27371dup, NG_013257.1:g.27369_27371dup, NG_013257.1:g.27367_27371dup, NG_013257.1:g.27371_27372insTTTTTTTTTTTTTTTT, NG_013257.1:g.27371_27372insTTTTTTTTTTTTTTTTT, NC_000023.11:g.364527_364534del, NC_000023.11:g.364532_364534del, NC_000023.11:g.364533_364534del, NC_000023.11:g.364534del, NC_000023.11:g.364534dup, NC_000023.11:g.364533_364534dup, NC_000023.11:g.364532_364534dup, NC_000023.11:g.364530_364534dup, NC_000023.11:g.364534_364535insAAAAAAAAAAAAAAAA, NC_000023.11:g.364534_364535insAAAAAAAAAAAAAAAAA, NC_000023.10:g.325262_325269del, NC_000023.10:g.325267_325269del, NC_000023.10:g.325268_325269del, NC_000023.10:g.325269del, NC_000023.10:g.325269dup, NC_000023.10:g.325268_325269dup, NC_000023.10:g.325267_325269dup, NC_000023.10:g.325265_325269dup, NC_000023.10:g.325269_325270insAAAAAAAAAAAAAAAA, NC_000023.10:g.325269_325270insAAAAAAAAAAAAAAAAA, NT_187634.1:g.47880_47887del, NT_187634.1:g.47885_47887del, NT_187634.1:g.47886_47887del, NT_187634.1:g.47887del, NT_187634.1:g.47887dup, NT_187634.1:g.47886_47887dup, NT_187634.1:g.47885_47887dup, NT_187634.1:g.47883_47887dup, NT_187634.1:g.47887_47888insAAAAAAAAAAAAAAAA, NT_187634.1:g.47887_47888insAAAAAAAAAAAAAAAAA, NT_187667.1:g.37020_37027del, NT_187667.1:g.37025_37027del, NT_187667.1:g.37026_37027del, NT_187667.1:g.37027del, NT_187667.1:g.37027dup, NT_187667.1:g.37026_37027dup, NT_187667.1:g.37025_37027dup, NT_187667.1:g.37023_37027dup, NT_187667.1:g.37027_37028insAAAAAAAAAAAAAAAA, NT_187667.1:g.37027_37028insAAAAAAAAAAAAAAAAA

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