SNP Links for Gene (Select 140739) - SNP

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Select item 14915582661.

rs1491558266 has merged into rs10557852 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:238029609 (GRCh38)
2:238938250 (GRCh37)
Canonical SPDI:: NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:238029595:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.225/1127 (1000Genomes)
HGVS:: NC_000002.12:g.238029609_238029612del, NC_000002.12:g.238029610_238029612del, NC_000002.12:g.238029611_238029612del, NC_000002.12:g.238029612del, NC_000002.12:g.238029612dup, NC_000002.12:g.238029611_238029612dup, NC_000002.12:g.238029610_238029612dup, NC_000002.11:g.238938250_238938253del, NC_000002.11:g.238938251_238938253del, NC_000002.11:g.238938252_238938253del, NC_000002.11:g.238938253del, NC_000002.11:g.238938253dup, NC_000002.11:g.238938252_238938253dup, NC_000002.11:g.238938251_238938253dup

Select item 14915306332.

rs1491530633 has merged into rs34177204 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:237994122 (GRCh38)
2:238902764 (GRCh37)
Canonical SPDI:: NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237994109:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0257/99 (ALSPAC)
T=0.2556/1280 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.237994122_237994127del, NC_000002.12:g.237994123_237994127del, NC_000002.12:g.237994124_237994127del, NC_000002.12:g.237994125_237994127del, NC_000002.12:g.237994126_237994127del, NC_000002.12:g.237994127del, NC_000002.12:g.237994127dup, NC_000002.12:g.237994126_237994127dup, NC_000002.12:g.237994125_237994127dup, NC_000002.12:g.237994119_237994127dup, NC_000002.11:g.238902764_238902769del, NC_000002.11:g.238902765_238902769del, NC_000002.11:g.238902766_238902769del, NC_000002.11:g.238902767_238902769del, NC_000002.11:g.238902768_238902769del, NC_000002.11:g.238902769del, NC_000002.11:g.238902769dup, NC_000002.11:g.238902768_238902769dup, NC_000002.11:g.238902767_238902769dup, NC_000002.11:g.238902761_238902769dup

Select item 14914723863.

rs1491472386 has merged into rs55984976 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:237985009 (GRCh38)
2:238893651 (GRCh37)
Canonical SPDI:: NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237984996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0729/281 (ALSPAC)
HGVS:: NC_000002.12:g.237985009_237985014del, NC_000002.12:g.237985010_237985014del, NC_000002.12:g.237985011_237985014del, NC_000002.12:g.237985012_237985014del, NC_000002.12:g.237985013_237985014del, NC_000002.12:g.237985014del, NC_000002.12:g.237985014dup, NC_000002.12:g.237985013_237985014dup, NC_000002.12:g.237985012_237985014dup, NC_000002.12:g.237985011_237985014dup, NC_000002.12:g.237985008_237985014dup, NC_000002.11:g.238893651_238893656del, NC_000002.11:g.238893652_238893656del, NC_000002.11:g.238893653_238893656del, NC_000002.11:g.238893654_238893656del, NC_000002.11:g.238893655_238893656del, NC_000002.11:g.238893656del, NC_000002.11:g.238893656dup, NC_000002.11:g.238893655_238893656dup, NC_000002.11:g.238893654_238893656dup, NC_000002.11:g.238893653_238893656dup, NC_000002.11:g.238893650_238893656dup

Select item 14914167354.

rs1491416735 has merged into rs370519965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:237974512 (GRCh38)
2:238883154 (GRCh37)
Canonical SPDI:: NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237974501:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237974512_237974514del, NC_000002.12:g.237974513_237974514del, NC_000002.12:g.237974514del, NC_000002.12:g.237974514dup, NC_000002.12:g.237974513_237974514dup, NC_000002.12:g.237974511_237974514dup, NC_000002.12:g.237974510_237974514dup, NC_000002.12:g.237974509_237974514dup, NC_000002.12:g.237974508_237974514dup, NC_000002.12:g.237974507_237974514dup, NC_000002.12:g.237974504_237974514dup, NC_000002.12:g.237974514_237974515insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.237974514_237974515insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.238883154_238883156del, NC_000002.11:g.238883155_238883156del, NC_000002.11:g.238883156del, NC_000002.11:g.238883156dup, NC_000002.11:g.238883155_238883156dup, NC_000002.11:g.238883153_238883156dup, NC_000002.11:g.238883152_238883156dup, NC_000002.11:g.238883151_238883156dup, NC_000002.11:g.238883150_238883156dup, NC_000002.11:g.238883149_238883156dup, NC_000002.11:g.238883146_238883156dup, NC_000002.11:g.238883156_238883157insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.238883156_238883157insTTTTTTTTTTTTTTTTTTTTT

Select item 14914115765.

rs1491411576 has merged into rs759256844 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:237990416 (GRCh38)
2:238899058 (GRCh37)
Canonical SPDI:: NC_000002.12:237990403:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237990403:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:237990403:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:237990403:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:237990403:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00211/49 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000002.12:g.237990416_237990418del, NC_000002.12:g.237990417_237990418del, NC_000002.12:g.237990418del, NC_000002.12:g.237990418dup, NC_000002.12:g.237990417_237990418dup, NC_000002.11:g.238899058_238899060del, NC_000002.11:g.238899059_238899060del, NC_000002.11:g.238899060del, NC_000002.11:g.238899060dup, NC_000002.11:g.238899059_238899060dup

Select item 14913220346.

rs1491322034 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:237972541 (GRCh38)
2:238881183 (GRCh37)
Canonical SPDI:: NC_000002.12:237972540:AT:
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000002.12:g.237972541_237972542del, NC_000002.11:g.238881183_238881184del

Select item 14913011447.

rs1491301144 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTT [Show Flanks]
Chromosome:: 2:238006760 (GRCh38)
2:238915403 (GRCh37)
Canonical SPDI:: NC_000002.12:238006760:TTTTT:TTTTTCTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTCTTTTT=0./0 (ALFA)
TTTTTC=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238006761_238006765T[5]CTTTTT[1], NC_000002.11:g.238915403_238915407T[5]CTTTTT[1]

Select item 14912611908.

rs1491261190 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:237994109 (GRCh38)
2:238902751 (GRCh37)
Canonical SPDI:: NC_000002.12:237994107:TCT:T
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003962/47 (ALFA)
-=0.00453/453 (GnomAD)
HGVS:: NC_000002.12:g.237994109_237994110del, NC_000002.11:g.238902751_238902752del

Select item 14912509199.

rs1491250919 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:237974501 (GRCh38)
2:238883143 (GRCh37)
Canonical SPDI:: NC_000002.12:237974500:GT:
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00029/21 (GnomAD)
-=0.00062/4 (1000Genomes)
-=0.00067/11 (TOMMO)
HGVS:: NC_000002.12:g.237974501_237974502del, NC_000002.11:g.238883143_238883144del

Select item 149120345810.

rs1491203458 has merged into rs57914670 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:237972556 (GRCh38)
2:238881198 (GRCh37)
Canonical SPDI:: NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237972541:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.237972556_237972568del, NC_000002.12:g.237972557_237972568del, NC_000002.12:g.237972558_237972568del, NC_000002.12:g.237972559_237972568del, NC_000002.12:g.237972560_237972568del, NC_000002.12:g.237972561_237972568del, NC_000002.12:g.237972562_237972568del, NC_000002.12:g.237972563_237972568del, NC_000002.12:g.237972564_237972568del, NC_000002.12:g.237972565_237972568del, NC_000002.12:g.237972566_237972568del, NC_000002.12:g.237972567_237972568del, NC_000002.12:g.237972568del, NC_000002.12:g.237972568dup, NC_000002.12:g.237972567_237972568dup, NC_000002.12:g.237972566_237972568dup, NC_000002.12:g.237972565_237972568dup, NC_000002.11:g.238881198_238881210del, NC_000002.11:g.238881199_238881210del, NC_000002.11:g.238881200_238881210del, NC_000002.11:g.238881201_238881210del, NC_000002.11:g.238881202_238881210del, NC_000002.11:g.238881203_238881210del, NC_000002.11:g.238881204_238881210del, NC_000002.11:g.238881205_238881210del, NC_000002.11:g.238881206_238881210del, NC_000002.11:g.238881207_238881210del, NC_000002.11:g.238881208_238881210del, NC_000002.11:g.238881209_238881210del, NC_000002.11:g.238881210del, NC_000002.11:g.238881210dup, NC_000002.11:g.238881209_238881210dup, NC_000002.11:g.238881208_238881210dup, NC_000002.11:g.238881207_238881210dup

Select item 149118618111.

rs1491186181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT [Show Flanks]
Chromosome:: 2:237994108 (GRCh38)
2:238902751 (GRCh37)
Canonical SPDI:: NC_000002.12:237994108:CT:CTCCT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.237994110_237994111insCCT, NC_000002.11:g.238902752_238902753insCCT

Select item 149118362112.

rs1491183621 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:237990111 (GRCh38)
2:238898753 (GRCh37)
Canonical SPDI:: NC_000002.12:237990110:CA:
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05041/598 (ALFA)
-=0.0052/147 (TOMMO)
-=0.0067/12 (Korea1K)
HGVS:: NC_000002.12:g.237990111_237990112del, NC_000002.11:g.238898753_238898754del

Select item 149117792913.

rs1491177929 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCT,CTTCTTCT [Show Flanks]
Chromosome:: 2:237994110 (GRCh38)
2:238902753 (GRCh37)
Canonical SPDI:: NC_000002.12:237994110:T:TCT,NC_000002.12:237994110:T:TCTTCT,NC_000002.12:237994110:T:TCTTCTTCT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
TC=0.01046/173 (TOMMO)
HGVS:: NC_000002.12:g.237994111_237994112insCT, NC_000002.12:g.237994111_237994112insCTTCT, NC_000002.12:g.237994111_237994112insCTTCTTCT, NC_000002.11:g.238902753_238902754insCT, NC_000002.11:g.238902753_238902754insCTTCT, NC_000002.11:g.238902753_238902754insCTTCTTCT

Select item 149117104714.

rs1491171047 has merged into rs146262180 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:237990125 (GRCh38)
2:238898767 (GRCh37)
Canonical SPDI:: NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:237990111:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.271/1357 (1000Genomes)
HGVS:: NC_000002.12:g.237990125_237990133del, NC_000002.12:g.237990126_237990133del, NC_000002.12:g.237990127_237990133del, NC_000002.12:g.237990128_237990133del, NC_000002.12:g.237990129_237990133del, NC_000002.12:g.237990130_237990133del, NC_000002.12:g.237990131_237990133del, NC_000002.12:g.237990132_237990133del, NC_000002.12:g.237990133del, NC_000002.12:g.237990133dup, NC_000002.12:g.237990132_237990133dup, NC_000002.12:g.237990131_237990133dup, NC_000002.11:g.238898767_238898775del, NC_000002.11:g.238898768_238898775del, NC_000002.11:g.238898769_238898775del, NC_000002.11:g.238898770_238898775del, NC_000002.11:g.238898771_238898775del, NC_000002.11:g.238898772_238898775del, NC_000002.11:g.238898773_238898775del, NC_000002.11:g.238898774_238898775del, NC_000002.11:g.238898775del, NC_000002.11:g.238898775dup, NC_000002.11:g.238898774_238898775dup, NC_000002.11:g.238898773_238898775dup

Select item 149115291415.

rs1491152914 has merged into rs66771814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:237986155 (GRCh38)
2:238894797 (GRCh37)
Canonical SPDI:: NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:237986142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.237986155_237986158del, NC_000002.12:g.237986156_237986158del, NC_000002.12:g.237986157_237986158del, NC_000002.12:g.237986158del, NC_000002.12:g.237986158dup, NC_000002.12:g.237986157_237986158dup, NC_000002.12:g.237986156_237986158dup, NC_000002.12:g.237986155_237986158dup, NC_000002.12:g.237986154_237986158dup, NC_000002.12:g.237986153_237986158dup, NC_000002.12:g.237986151_237986158dup, NC_000002.12:g.237986150_237986158dup, NC_000002.11:g.238894797_238894800del, NC_000002.11:g.238894798_238894800del, NC_000002.11:g.238894799_238894800del, NC_000002.11:g.238894800del, NC_000002.11:g.238894800dup, NC_000002.11:g.238894799_238894800dup, NC_000002.11:g.238894798_238894800dup, NC_000002.11:g.238894797_238894800dup, NC_000002.11:g.238894796_238894800dup, NC_000002.11:g.238894795_238894800dup, NC_000002.11:g.238894793_238894800dup, NC_000002.11:g.238894792_238894800dup

Select item 149114110616.

rs1491141106 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:238035800 (GRCh38)
2:238944441 (GRCh37)
Canonical SPDI:: NC_000002.12:238035799:AC:
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.238035800_238035801del, NC_000002.11:g.238944441_238944442del

Select item 149108879417.

rs1491088794 has merged into rs34003831 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:238012057 (GRCh38)
2:238920699 (GRCh37)
Canonical SPDI:: NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:238012044:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4197/2102 (1000Genomes)
HGVS:: NC_000002.12:g.238012057_238012062del, NC_000002.12:g.238012061_238012062del, NC_000002.12:g.238012062del, NC_000002.12:g.238012062dup, NC_000002.12:g.238012061_238012062dup, NC_000002.12:g.238012060_238012062dup, NC_000002.12:g.238012059_238012062dup, NC_000002.12:g.238012058_238012062dup, NC_000002.12:g.238012057_238012062dup, NC_000002.12:g.238012056_238012062dup, NC_000002.12:g.238012052_238012062dup, NC_000002.11:g.238920699_238920704del, NC_000002.11:g.238920703_238920704del, NC_000002.11:g.238920704del, NC_000002.11:g.238920704dup, NC_000002.11:g.238920703_238920704dup, NC_000002.11:g.238920702_238920704dup, NC_000002.11:g.238920701_238920704dup, NC_000002.11:g.238920700_238920704dup, NC_000002.11:g.238920699_238920704dup, NC_000002.11:g.238920698_238920704dup, NC_000002.11:g.238920694_238920704dup

Select item 149107354318.

rs1491073543 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:237974515 (GRCh38)
2:238883157 (GRCh37)
Canonical SPDI:: NC_000002.12:237974513:TGT:T
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00076/9 (ALFA)
-=0.00043/34 (GnomAD)
-=0.00094/15 (TOMMO)
HGVS:: NC_000002.12:g.237974515_237974516del, NC_000002.11:g.238883157_238883158del

Select item 149104202519.

rs1491042025 [Homo sapiens]

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

Select item 149103094120.

rs1491030941 has merged into rs35634659 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 2:237988459 (GRCh38)
2:238897101 (GRCh37)
Canonical SPDI:: NC_000002.12:237988447:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:237988447:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:237988447:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:237988447:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: UBE2F (Varview), UBE2F-SCLY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00086/4 (ALFA)
A=0.02017/338 (TOMMO)
A=0.14894/574 (ALSPAC)
A=0.15763/93 (NorthernSweden)
A=0.15858/588 (TWINSUK)
A=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.237988459_237988461del, NC_000002.12:g.237988460_237988461del, NC_000002.12:g.237988461del, NC_000002.12:g.237988461dup, NC_000002.11:g.238897101_238897103del, NC_000002.11:g.238897102_238897103del, NC_000002.11:g.238897103del, NC_000002.11:g.238897103dup

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