SNP Links for Gene (Select 7336) - SNP

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Select item 14915527871.

rs1491552787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:48041174 (GRCh38)
8:48953735 (GRCh37)
Canonical SPDI:: NC_000008.11:48041174:T:TGT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.48041175_48041176insGT, NC_000008.10:g.48953735_48953736insGT

Select item 14915321272.

rs1491532127 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:48060209 (GRCh38)
8:48972769 (GRCh37)
Canonical SPDI:: NC_000008.11:48060208:CA:
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000008.11:g.48060209_48060210del, NC_000008.10:g.48972769_48972770del

Select item 14914791563.

rs1491479156 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:48014644 (GRCh38)
8:48927204 (GRCh37)
Canonical SPDI:: NC_000008.11:48014643:CA:
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.48014644_48014645del, NC_000008.10:g.48927204_48927205del

Select item 14913928324.

rs1491392832 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 8:48035620 (GRCh38)
8:48948181 (GRCh37)
Canonical SPDI:: NC_000008.11:48035620:TTT:TTTGTTT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0./0 (ALFA)
TTTG=0.00002/1 (GnomAD)
HGVS:: NC_000008.11:g.48035623_48035624insGTTT, NC_000008.10:g.48948183_48948184insGTTT

Select item 14913896575.

rs1491389657 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:48052197 (GRCh38)
8:48964758 (GRCh37)
Canonical SPDI:: NC_000008.11:48052197:T:TT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000045/12 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.48052198dup, NC_000008.10:g.48964758dup

Select item 14913328376.

rs1491332837 has merged into rs778688669 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 8:48017389 (GRCh38)
8:48929949 (GRCh37)
Canonical SPDI:: NC_000008.11:48017378:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:48017378:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:48017378:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:48017378:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:48017378:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:48017378:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.175/7 (GENOME_DK)
HGVS:: NC_000008.11:g.48017389_48017392del, NC_000008.11:g.48017390_48017392del, NC_000008.11:g.48017391_48017392del, NC_000008.11:g.48017392del, NC_000008.11:g.48017392dup, NC_000008.11:g.48017391_48017392dup, NC_000008.10:g.48929949_48929952del, NC_000008.10:g.48929950_48929952del, NC_000008.10:g.48929951_48929952del, NC_000008.10:g.48929952del, NC_000008.10:g.48929952dup, NC_000008.10:g.48929951_48929952dup

Select item 14913239237.

rs1491323923 has merged into rs1179934700 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:48014657 (GRCh38)
8:48927217 (GRCh37)
Canonical SPDI:: NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48014644:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.48014657_48014664del, NC_000008.11:g.48014658_48014664del, NC_000008.11:g.48014660_48014664del, NC_000008.11:g.48014661_48014664del, NC_000008.11:g.48014662_48014664del, NC_000008.11:g.48014663_48014664del, NC_000008.11:g.48014664del, NC_000008.11:g.48014664dup, NC_000008.11:g.48014663_48014664dup, NC_000008.11:g.48014662_48014664dup, NC_000008.11:g.48014661_48014664dup, NC_000008.11:g.48014659_48014664dup, NC_000008.10:g.48927217_48927224del, NC_000008.10:g.48927218_48927224del, NC_000008.10:g.48927220_48927224del, NC_000008.10:g.48927221_48927224del, NC_000008.10:g.48927222_48927224del, NC_000008.10:g.48927223_48927224del, NC_000008.10:g.48927224del, NC_000008.10:g.48927224dup, NC_000008.10:g.48927223_48927224dup, NC_000008.10:g.48927222_48927224dup, NC_000008.10:g.48927221_48927224dup, NC_000008.10:g.48927219_48927224dup

Select item 14912813518.

rs1491281351 has merged into rs578114987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:48035117 (GRCh38)
8:48947677 (GRCh37)
Canonical SPDI:: NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035107:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.4393/2200 (1000Genomes)
HGVS:: NC_000008.11:g.48035117_48035132del, NC_000008.11:g.48035118_48035132del, NC_000008.11:g.48035119_48035132del, NC_000008.11:g.48035120_48035132del, NC_000008.11:g.48035121_48035132del, NC_000008.11:g.48035122_48035132del, NC_000008.11:g.48035123_48035132del, NC_000008.11:g.48035124_48035132del, NC_000008.11:g.48035125_48035132del, NC_000008.11:g.48035126_48035132del, NC_000008.11:g.48035127_48035132del, NC_000008.11:g.48035128_48035132del, NC_000008.11:g.48035129_48035132del, NC_000008.11:g.48035130_48035132del, NC_000008.11:g.48035131_48035132del, NC_000008.11:g.48035132del, NC_000008.11:g.48035132dup, NC_000008.11:g.48035131_48035132dup, NC_000008.11:g.48035130_48035132dup, NC_000008.11:g.48035129_48035132dup, NC_000008.11:g.48035128_48035132dup, NC_000008.11:g.48035127_48035132dup, NC_000008.11:g.48035126_48035132dup, NC_000008.11:g.48035125_48035132dup, NC_000008.11:g.48035124_48035132dup, NC_000008.11:g.48035123_48035132dup, NC_000008.11:g.48035122_48035132dup, NC_000008.11:g.48035121_48035132dup, NC_000008.11:g.48035120_48035132dup, NC_000008.11:g.48035118_48035132dup, NC_000008.11:g.48035132_48035133insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.48035132_48035133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.48947677_48947692del, NC_000008.10:g.48947678_48947692del, NC_000008.10:g.48947679_48947692del, NC_000008.10:g.48947680_48947692del, NC_000008.10:g.48947681_48947692del, NC_000008.10:g.48947682_48947692del, NC_000008.10:g.48947683_48947692del, NC_000008.10:g.48947684_48947692del, NC_000008.10:g.48947685_48947692del, NC_000008.10:g.48947686_48947692del, NC_000008.10:g.48947687_48947692del, NC_000008.10:g.48947688_48947692del, NC_000008.10:g.48947689_48947692del, NC_000008.10:g.48947690_48947692del, NC_000008.10:g.48947691_48947692del, NC_000008.10:g.48947692del, NC_000008.10:g.48947692dup, NC_000008.10:g.48947691_48947692dup, NC_000008.10:g.48947690_48947692dup, NC_000008.10:g.48947689_48947692dup, NC_000008.10:g.48947688_48947692dup, NC_000008.10:g.48947687_48947692dup, NC_000008.10:g.48947686_48947692dup, NC_000008.10:g.48947685_48947692dup, NC_000008.10:g.48947684_48947692dup, NC_000008.10:g.48947683_48947692dup, NC_000008.10:g.48947682_48947692dup, NC_000008.10:g.48947681_48947692dup, NC_000008.10:g.48947680_48947692dup, NC_000008.10:g.48947678_48947692dup, NC_000008.10:g.48947692_48947693insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.48947692_48947693insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911935879.

rs1491193587 has merged into rs557515958 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:48060218 (GRCh38)
8:48972778 (GRCh37)
Canonical SPDI:: NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48060209:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.48060218_48060233del, NC_000008.11:g.48060219_48060233del, NC_000008.11:g.48060220_48060233del, NC_000008.11:g.48060221_48060233del, NC_000008.11:g.48060222_48060233del, NC_000008.11:g.48060223_48060233del, NC_000008.11:g.48060224_48060233del, NC_000008.11:g.48060226_48060233del, NC_000008.11:g.48060227_48060233del, NC_000008.11:g.48060228_48060233del, NC_000008.11:g.48060230_48060233del, NC_000008.11:g.48060231_48060233del, NC_000008.11:g.48060232_48060233del, NC_000008.11:g.48060233del, NC_000008.11:g.48060233dup, NC_000008.11:g.48060232_48060233dup, NC_000008.11:g.48060231_48060233dup, NC_000008.11:g.48060230_48060233dup, NC_000008.11:g.48060229_48060233dup, NC_000008.11:g.48060233_48060234insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.48060233_48060234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.48972778_48972793del, NC_000008.10:g.48972779_48972793del, NC_000008.10:g.48972780_48972793del, NC_000008.10:g.48972781_48972793del, NC_000008.10:g.48972782_48972793del, NC_000008.10:g.48972783_48972793del, NC_000008.10:g.48972784_48972793del, NC_000008.10:g.48972786_48972793del, NC_000008.10:g.48972787_48972793del, NC_000008.10:g.48972788_48972793del, NC_000008.10:g.48972790_48972793del, NC_000008.10:g.48972791_48972793del, NC_000008.10:g.48972792_48972793del, NC_000008.10:g.48972793del, NC_000008.10:g.48972793dup, NC_000008.10:g.48972792_48972793dup, NC_000008.10:g.48972791_48972793dup, NC_000008.10:g.48972790_48972793dup, NC_000008.10:g.48972789_48972793dup, NC_000008.10:g.48972793_48972794insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.48972793_48972794insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149116416610.

rs1491164166 has merged into rs770027131 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:48035627 (GRCh38)
8:48948187 (GRCh37)
Canonical SPDI:: NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48035619:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.48035627_48035632del, NC_000008.11:g.48035628_48035632del, NC_000008.11:g.48035629_48035632del, NC_000008.11:g.48035630_48035632del, NC_000008.11:g.48035631_48035632del, NC_000008.11:g.48035632del, NC_000008.11:g.48035632dup, NC_000008.11:g.48035631_48035632dup, NC_000008.11:g.48035630_48035632dup, NC_000008.11:g.48035629_48035632dup, NC_000008.11:g.48035628_48035632dup, NC_000008.11:g.48035627_48035632dup, NC_000008.11:g.48035626_48035632dup, NC_000008.11:g.48035625_48035632dup, NC_000008.11:g.48035624_48035632dup, NC_000008.10:g.48948187_48948192del, NC_000008.10:g.48948188_48948192del, NC_000008.10:g.48948189_48948192del, NC_000008.10:g.48948190_48948192del, NC_000008.10:g.48948191_48948192del, NC_000008.10:g.48948192del, NC_000008.10:g.48948192dup, NC_000008.10:g.48948191_48948192dup, NC_000008.10:g.48948190_48948192dup, NC_000008.10:g.48948189_48948192dup, NC_000008.10:g.48948188_48948192dup, NC_000008.10:g.48948187_48948192dup, NC_000008.10:g.48948186_48948192dup, NC_000008.10:g.48948185_48948192dup, NC_000008.10:g.48948184_48948192dup

Select item 149110245911.

rs1491102459 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GT
Chromosome:: no mapping
Canonical SPDI:

Select item 149099754412.

rs1490997544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48010930 (GRCh38)
8:48923490 (GRCh37)
Canonical SPDI:: NC_000008.11:48010929:C:T
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000024/3 (GnomAD)
HGVS:: NC_000008.11:g.48010930C>T, NC_000008.10:g.48923490C>T

Select item 149097584213.

rs1490975842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48001926 (GRCh38)
8:48914486 (GRCh37)
Canonical SPDI:: NC_000008.11:48001925:C:T
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48001926C>T, NC_000008.10:g.48914486C>T

Select item 149092050314.

rs1490920503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:48000880 (GRCh38)
8:48913440 (GRCh37)
Canonical SPDI:: NC_000008.11:48000879:A:G
Gene:: UBE2V2 (Varview), TCONS_00068220 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.48000880A>G, NC_000008.10:g.48913440A>G

Select item 149088946415.

rs1490889464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:48050383 (GRCh38)
8:48962943 (GRCh37)
Canonical SPDI:: NC_000008.11:48050382:T:C
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0002/1 (1000Genomes)
HGVS:: NC_000008.11:g.48050383T>C, NC_000008.10:g.48962943T>C

Select item 149081663616.

rs1490816636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:48058368 (GRCh38)
8:48970928 (GRCh37)
Canonical SPDI:: NC_000008.11:48058367:T:C
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48058368T>C, NC_000008.10:g.48970928T>C

Select item 149071855217.

rs1490718552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48042810 (GRCh38)
8:48955370 (GRCh37)
Canonical SPDI:: NC_000008.11:48042809:C:T
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000076/20 (TOPMED)
T=0.000107/15 (GnomAD)
HGVS:: NC_000008.11:g.48042810C>T, NC_000008.10:g.48955370C>T

Select item 149066483118.

rs1490664831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:48059416 (GRCh38)
8:48971976 (GRCh37)
Canonical SPDI:: NC_000008.11:48059415:T:G
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.48059416T>G, NC_000008.10:g.48971976T>G

Select item 149064910119.

rs1490649101 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:48061876 (GRCh38)
8:48974436 (GRCh37)
Canonical SPDI:: NC_000008.11:48061875:CCC:CC
Gene:: UBE2V2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48061878del, NC_000008.10:g.48974438del, XM_011517583.4:c.*1050del, XM_011517583.3:c.*1050del, XM_011517583.2:c.*1050del, XM_011517583.1:c.*1050del, XM_017013808.3:c.*1050del, XM_017013808.1:c.*1050del, NM_003350.3:c.*1050del, NM_003350.2:c.*1050del

Select item 149064788920.

rs1490647889 has merged into rs879871970 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 8:48022153 (GRCh38)
8:48934713 (GRCh37)
Canonical SPDI:: NC_000008.11:48022142:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:48022142:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:48022142:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:48022142:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:48022142:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: UBE2V2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000008.11:g.48022153_48022155del, NC_000008.11:g.48022154_48022155del, NC_000008.11:g.48022155del, NC_000008.11:g.48022155dup, NC_000008.11:g.48022154_48022155dup, NC_000008.10:g.48934713_48934715del, NC_000008.10:g.48934714_48934715del, NC_000008.10:g.48934715del, NC_000008.10:g.48934715dup, NC_000008.10:g.48934714_48934715dup

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