Links from Gene
Items: 1 to 20 of 1045
1.
rs1491020364 has merged into rs35991384 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:35169340
(GRCh38)
16:34403711
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.35169340_35169346del, NC_000016.10:g.35169343_35169346del, NC_000016.10:g.35169344_35169346del, NC_000016.10:g.35169345_35169346del, NC_000016.10:g.35169346del, NC_000016.10:g.35169346dup, NC_000016.10:g.35169345_35169346dup, NC_000016.10:g.35169344_35169346dup, NC_000016.10:g.35169343_35169346dup, NC_000016.10:g.35169337_35169346dup, NC_000016.9:g.34403711_34403717del, NC_000016.9:g.34403714_34403717del, NC_000016.9:g.34403715_34403717del, NC_000016.9:g.34403716_34403717del, NC_000016.9:g.34403717del, NC_000016.9:g.34403717dup, NC_000016.9:g.34403716_34403717dup, NC_000016.9:g.34403715_34403717dup, NC_000016.9:g.34403714_34403717dup, NC_000016.9:g.34403708_34403717dup
2.
rs1490509298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:35171794
(GRCh38)
16:34406165
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35171793:T:C
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
3.
rs1490398664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:35170206
(GRCh38)
16:34404577
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35170205:C:T
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489270779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:35170261
(GRCh38)
16:34404632
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35170260:G:A,NC_000016.10:35170260:G:T
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1487520269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:35169924
(GRCh38)
16:34404295
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35169923:C:G,NC_000016.10:35169923:C:T
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0./0
(KOREAN)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486346551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:35170576
(GRCh38)
16:34404947
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35170575:C:T
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486209133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:35168939
(GRCh38)
16:34403310
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35168938:G:A,NC_000016.10:35168938:G:T
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
8.
rs1486071314 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTG
[Show Flanks]
- Chromosome:
- 16:35169344
(GRCh38)
16:34403716
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35169344:TTG:TTGTTG
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTGTTG=0./0
(
ALFA)
TTG=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485309977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:35172109
(GRCh38)
16:34406480
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35172108:C:G
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
11.
rs1485069620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:35169423
(GRCh38)
16:34403794
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35169422:G:A
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1483962413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:35169991
(GRCh38)
16:34404362
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35169990:C:G
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1482274346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:35169750
(GRCh38)
16:34404121
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35169749:G:A
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1482113396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:35172293
(GRCh38)
16:34406664
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35172292:G:A
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1481667445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 16:35171070
(GRCh38)
16:34405442
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35171070:AA:AAAA
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
AA=0.000007/1
(GnomAD)
AA=0.000008/2
(TOPMED)
- HGVS:
16.
rs1481605670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:35170412
(GRCh38)
16:34404783
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35170411:C:T
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1481144987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCCGC
[Show Flanks]
- Chromosome:
- 16:35170367
(GRCh38)
16:34404739
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35170367:GCCGCGCCGC:GCCGCGCCGCGCCGC
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCGCGCCGCGCCGC=0./0
(
ALFA)
GCCGC=0.000004/1
(TOPMED)
GCCGC=0.000007/1
(GnomAD)
- HGVS:
18.
rs1480703664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTT>-
[Show Flanks]
- Chromosome:
- 16:35171507
(GRCh38)
16:34405878
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35171503:TTTATTT:TTT
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1480029385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:35171426
(GRCh38)
16:34405797
(GRCh37)
- Canonical SPDI:
- NC_000016.10:35171425:A:G
- Gene:
- UBE2MP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: