Links from Gene
Items: 1 to 20 of 1000
1.
rs1491544402 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:139577405
(GRCh38)
5:138956991
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139577405::C
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491489902 has merged into rs34697798 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 5:139578452
(GRCh38)
5:138958037
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:139578434:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.2432/1218
(1000Genomes)
- HGVS:
NC_000005.10:g.139578436GT[8], NC_000005.10:g.139578436GT[9], NC_000005.10:g.139578436GT[10], NC_000005.10:g.139578436GT[11], NC_000005.10:g.139578436GT[12], NC_000005.10:g.139578436GT[13], NC_000005.10:g.139578436GT[14], NC_000005.10:g.139578436GT[15], NC_000005.10:g.139578436GT[16], NC_000005.10:g.139578436GT[18], NC_000005.10:g.139578436GT[19], NC_000005.10:g.139578436GT[20], NC_000005.10:g.139578436GT[21], NC_000005.10:g.139578436GT[22], NC_000005.10:g.139578436GT[23], NC_000005.10:g.139578436GT[24], NC_000005.10:g.139578436GT[25], NC_000005.9:g.138958021GT[8], NC_000005.9:g.138958021GT[9], NC_000005.9:g.138958021GT[10], NC_000005.9:g.138958021GT[11], NC_000005.9:g.138958021GT[12], NC_000005.9:g.138958021GT[13], NC_000005.9:g.138958021GT[14], NC_000005.9:g.138958021GT[15], NC_000005.9:g.138958021GT[16], NC_000005.9:g.138958021GT[18], NC_000005.9:g.138958021GT[19], NC_000005.9:g.138958021GT[20], NC_000005.9:g.138958021GT[21], NC_000005.9:g.138958021GT[22], NC_000005.9:g.138958021GT[23], NC_000005.9:g.138958021GT[24], NC_000005.9:g.138958021GT[25]
3.
rs1491458585 has merged into rs1380936097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 5:139595381
(GRCh38)
5:138974966
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139595380:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139595380:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.00007/1
(
ALFA)
- HGVS:
4.
rs1491329125 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:139564458
(GRCh38)
5:138944043
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139564457:CT:
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491314327 has merged into rs34610126 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:139614070
(GRCh38)
5:138993655
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000005.10:g.139614070_139614081del, NC_000005.10:g.139614074_139614081del, NC_000005.10:g.139614076_139614081del, NC_000005.10:g.139614077_139614081del, NC_000005.10:g.139614078_139614081del, NC_000005.10:g.139614079_139614081del, NC_000005.10:g.139614080_139614081del, NC_000005.10:g.139614081del, NC_000005.10:g.139614081dup, NC_000005.10:g.139614080_139614081dup, NC_000005.10:g.139614079_139614081dup, NC_000005.10:g.139614078_139614081dup, NC_000005.9:g.138993655_138993666del, NC_000005.9:g.138993659_138993666del, NC_000005.9:g.138993661_138993666del, NC_000005.9:g.138993662_138993666del, NC_000005.9:g.138993663_138993666del, NC_000005.9:g.138993664_138993666del, NC_000005.9:g.138993665_138993666del, NC_000005.9:g.138993666del, NC_000005.9:g.138993666dup, NC_000005.9:g.138993665_138993666dup, NC_000005.9:g.138993664_138993666dup, NC_000005.9:g.138993663_138993666dup
6.
rs1491268082 has merged into rs70988710 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:139605597
(GRCh38)
5:138985182
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139605591:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000005.10:g.139605597_139605614del, NC_000005.10:g.139605601_139605614del, NC_000005.10:g.139605602_139605614del, NC_000005.10:g.139605603_139605614del, NC_000005.10:g.139605604_139605614del, NC_000005.10:g.139605605_139605614del, NC_000005.10:g.139605606_139605614del, NC_000005.10:g.139605607_139605614del, NC_000005.10:g.139605608_139605614del, NC_000005.10:g.139605609_139605614del, NC_000005.10:g.139605610_139605614del, NC_000005.10:g.139605611_139605614del, NC_000005.10:g.139605612_139605614del, NC_000005.10:g.139605613_139605614del, NC_000005.10:g.139605614del, NC_000005.10:g.139605614dup, NC_000005.10:g.139605613_139605614dup, NC_000005.10:g.139605612_139605614dup, NC_000005.10:g.139605611_139605614dup, NC_000005.10:g.139605610_139605614dup, NC_000005.10:g.139605609_139605614dup, NC_000005.10:g.139605608_139605614dup, NC_000005.10:g.139605607_139605614dup, NC_000005.10:g.139605606_139605614dup, NC_000005.10:g.139605605_139605614dup, NC_000005.10:g.139605604_139605614dup, NC_000005.10:g.139605603_139605614dup, NC_000005.10:g.139605597_139605614dup, NC_000005.10:g.139605596_139605614dup, NC_000005.10:g.139605595_139605614dup, NC_000005.10:g.139605593_139605614dup, NC_000005.10:g.139605592_139605614A[33]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.138985182_138985199del, NC_000005.9:g.138985186_138985199del, NC_000005.9:g.138985187_138985199del, NC_000005.9:g.138985188_138985199del, NC_000005.9:g.138985189_138985199del, NC_000005.9:g.138985190_138985199del, NC_000005.9:g.138985191_138985199del, NC_000005.9:g.138985192_138985199del, NC_000005.9:g.138985193_138985199del, NC_000005.9:g.138985194_138985199del, NC_000005.9:g.138985195_138985199del, NC_000005.9:g.138985196_138985199del, NC_000005.9:g.138985197_138985199del, NC_000005.9:g.138985198_138985199del, NC_000005.9:g.138985199del, NC_000005.9:g.138985199dup, NC_000005.9:g.138985198_138985199dup, NC_000005.9:g.138985197_138985199dup, NC_000005.9:g.138985196_138985199dup, NC_000005.9:g.138985195_138985199dup, NC_000005.9:g.138985194_138985199dup, NC_000005.9:g.138985193_138985199dup, NC_000005.9:g.138985192_138985199dup, NC_000005.9:g.138985191_138985199dup, NC_000005.9:g.138985190_138985199dup, NC_000005.9:g.138985189_138985199dup, NC_000005.9:g.138985188_138985199dup, NC_000005.9:g.138985182_138985199dup, NC_000005.9:g.138985181_138985199dup, NC_000005.9:g.138985180_138985199dup, NC_000005.9:g.138985178_138985199dup, NC_000005.9:g.138985177_138985199A[33]GAAAAAAAAAAAAAAAAAAAAAAAA[1]
7.
rs1491263157 has merged into rs75539434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:139574743
(GRCh38)
5:138954328
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.012455/48
(ALSPAC)
- HGVS:
NC_000005.10:g.139574743_139574753del, NC_000005.10:g.139574744_139574753del, NC_000005.10:g.139574745_139574753del, NC_000005.10:g.139574746_139574753del, NC_000005.10:g.139574747_139574753del, NC_000005.10:g.139574748_139574753del, NC_000005.10:g.139574749_139574753del, NC_000005.10:g.139574750_139574753del, NC_000005.10:g.139574751_139574753del, NC_000005.10:g.139574752_139574753del, NC_000005.10:g.139574753del, NC_000005.10:g.139574753dup, NC_000005.10:g.139574752_139574753dup, NC_000005.10:g.139574751_139574753dup, NC_000005.10:g.139574750_139574753dup, NC_000005.10:g.139574749_139574753dup, NC_000005.10:g.139574748_139574753dup, NC_000005.10:g.139574747_139574753dup, NC_000005.10:g.139574746_139574753dup, NC_000005.10:g.139574745_139574753dup, NC_000005.10:g.139574744_139574753dup, NC_000005.10:g.139574743_139574753dup, NC_000005.10:g.139574742_139574753dup, NC_000005.10:g.139574741_139574753dup, NC_000005.10:g.139574740_139574753dup, NC_000005.10:g.139574739_139574753dup, NC_000005.10:g.139574738_139574753dup, NC_000005.10:g.139574737_139574753dup, NC_000005.10:g.139574736_139574753dup, NC_000005.9:g.138954328_138954338del, NC_000005.9:g.138954329_138954338del, NC_000005.9:g.138954330_138954338del, NC_000005.9:g.138954331_138954338del, NC_000005.9:g.138954332_138954338del, NC_000005.9:g.138954333_138954338del, NC_000005.9:g.138954334_138954338del, NC_000005.9:g.138954335_138954338del, NC_000005.9:g.138954336_138954338del, NC_000005.9:g.138954337_138954338del, NC_000005.9:g.138954338del, NC_000005.9:g.138954338dup, NC_000005.9:g.138954337_138954338dup, NC_000005.9:g.138954336_138954338dup, NC_000005.9:g.138954335_138954338dup, NC_000005.9:g.138954334_138954338dup, NC_000005.9:g.138954333_138954338dup, NC_000005.9:g.138954332_138954338dup, NC_000005.9:g.138954331_138954338dup, NC_000005.9:g.138954330_138954338dup, NC_000005.9:g.138954329_138954338dup, NC_000005.9:g.138954328_138954338dup, NC_000005.9:g.138954327_138954338dup, NC_000005.9:g.138954326_138954338dup, NC_000005.9:g.138954325_138954338dup, NC_000005.9:g.138954324_138954338dup, NC_000005.9:g.138954323_138954338dup, NC_000005.9:g.138954322_138954338dup, NC_000005.9:g.138954321_138954338dup
8.
rs1491166959 has merged into rs869189901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:139577416
(GRCh38)
5:138957001
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139577404:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.139577416_139577429del, NC_000005.10:g.139577417_139577429del, NC_000005.10:g.139577418_139577429del, NC_000005.10:g.139577419_139577429del, NC_000005.10:g.139577420_139577429del, NC_000005.10:g.139577421_139577429del, NC_000005.10:g.139577422_139577429del, NC_000005.10:g.139577423_139577429del, NC_000005.10:g.139577424_139577429del, NC_000005.10:g.139577425_139577429del, NC_000005.10:g.139577426_139577429del, NC_000005.10:g.139577427_139577429del, NC_000005.10:g.139577428_139577429del, NC_000005.10:g.139577429del, NC_000005.10:g.139577429dup, NC_000005.10:g.139577428_139577429dup, NC_000005.10:g.139577427_139577429dup, NC_000005.10:g.139577426_139577429dup, NC_000005.10:g.139577425_139577429dup, NC_000005.10:g.139577424_139577429dup, NC_000005.10:g.139577423_139577429dup, NC_000005.10:g.139577422_139577429dup, NC_000005.10:g.139577419_139577429dup, NC_000005.10:g.139577429_139577430insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.138957001_138957014del, NC_000005.9:g.138957002_138957014del, NC_000005.9:g.138957003_138957014del, NC_000005.9:g.138957004_138957014del, NC_000005.9:g.138957005_138957014del, NC_000005.9:g.138957006_138957014del, NC_000005.9:g.138957007_138957014del, NC_000005.9:g.138957008_138957014del, NC_000005.9:g.138957009_138957014del, NC_000005.9:g.138957010_138957014del, NC_000005.9:g.138957011_138957014del, NC_000005.9:g.138957012_138957014del, NC_000005.9:g.138957013_138957014del, NC_000005.9:g.138957014del, NC_000005.9:g.138957014dup, NC_000005.9:g.138957013_138957014dup, NC_000005.9:g.138957012_138957014dup, NC_000005.9:g.138957011_138957014dup, NC_000005.9:g.138957010_138957014dup, NC_000005.9:g.138957009_138957014dup, NC_000005.9:g.138957008_138957014dup, NC_000005.9:g.138957007_138957014dup, NC_000005.9:g.138957004_138957014dup, NC_000005.9:g.138957014_138957015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491143694 has merged into rs919205121 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 5:139564469
(GRCh38)
5:138944054
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139564458:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139564458:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139564458:TTTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0.000054/1
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.010652/179
(TOMMO)
- HGVS:
11.
rs1491141551 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:139595380
(GRCh38)
5:138974965
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139595379:GT:
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1491051609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:139620603
(GRCh38)
5:139000189
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139620603:AAAAAAA:AAAAAAAA
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490956788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:139582859
(GRCh38)
5:138962444
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139582858:A:T
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000072/10
(GnomAD)
T=0.000079/21
(TOPMED)
- HGVS:
17.
rs1490955631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:139615295
(GRCh38)
5:138994880
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139615294:T:C
- Gene:
- UBE2D2 (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)
C=0.000035/1
(TOMMO)
- HGVS:
18.
rs1490941002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:139601360
(GRCh38)
5:138980945
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139601359:T:C
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490938576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:139611331
(GRCh38)
5:138990916
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139611330:C:A,NC_000005.10:139611330:C:T
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
20.
rs1490779957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 5:139581906
(GRCh38)
5:138961491
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139581905:A:G,NC_000005.10:139581905:A:T
- Gene:
- UBE2D2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS: