Links from Gene
Items: 1 to 20 of 1882
1.
rs1490428504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:22257913
(GRCh38)
10:22546842
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22257912:C:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
2.
rs1490351712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:22255029
(GRCh38)
10:22543958
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22255028:G:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489732893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:22258249
(GRCh38)
10:22547178
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22258248:A:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_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:
5.
rs1488214940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22253489
(GRCh38)
10:22542418
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22253488:A:G
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
6.
rs1487942170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 10:22254549
(GRCh38)
10:22543478
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22254548:A:C,NC_000010.11:22254548:A:G
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000010.11:g.22254549A>C, NC_000010.11:g.22254549A>G, NC_000010.10:g.22543478A>C, NC_000010.10:g.22543478A>G, XR_001747389.3:n.3996T>G, XR_001747389.3:n.3996T>C, XR_001747389.2:n.70T>G, XR_001747389.2:n.70T>C, XR_001747389.1:n.189T>G, XR_001747389.1:n.189T>C, XR_001747390.3:n.3996T>G, XR_001747390.3:n.3996T>C, XR_001747390.2:n.70T>G, XR_001747390.2:n.70T>C, XR_001747390.1:n.189T>G, XR_001747390.1:n.189T>C, NR_038921.1:n.2478A>C, NR_038921.1:n.2478A>G
7.
rs1487876702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22255695
(GRCh38)
10:22544624
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22255694:A:G
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
8.
rs1487642503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:22255874
(GRCh38)
10:22544803
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22255873:G:C
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
9.
rs1487636847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:22252704
(GRCh38)
10:22541633
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22252703:C:A
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487464013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:22256659
(GRCh38)
10:22545588
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22256658:G:A
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1487309265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:22253860
(GRCh38)
10:22542789
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22253859:A:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487188640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:22252764
(GRCh38)
10:22541693
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22252763:G:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
13.
rs1485908352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:22256816
(GRCh38)
10:22545745
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22256815:T:C
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1485289388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:22253543
(GRCh38)
10:22542472
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22253542:G:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1484944522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:22251316
(GRCh38)
10:22540245
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22251315:C:A
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1484691544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:22250688
(GRCh38)
10:22539617
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22250687:G:A
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1484400169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 10:22250315
(GRCh38)
10:22539244
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22250314:G:A,NC_000010.11:22250314:G:T
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000049/13
(TOPMED)
A=0.000078/11
(GnomAD)
- HGVS:
NC_000010.11:g.22250315G>A, NC_000010.11:g.22250315G>T, NC_000010.10:g.22539244G>A, NC_000010.10:g.22539244G>T, XR_001747389.3:n.7459C>T, XR_001747389.3:n.7459C>A, XR_001747389.2:n.3533C>T, XR_001747389.2:n.3533C>A, XR_001747389.1:n.3652C>T, XR_001747389.1:n.3652C>A, XR_001747390.3:n.6738C>T, XR_001747390.3:n.6738C>A, XR_001747390.2:n.2812C>T, XR_001747390.2:n.2812C>A, XR_001747390.1:n.2931C>T, XR_001747390.1:n.2931C>A
19.
rs1483057997 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTAT
[Show Flanks]
- Chromosome:
- 10:22251102
(GRCh38)
10:22540032
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22251102:TAT:TATTTAT
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTTAT=0./0
(
ALFA)
TATT=0.000008/1
(GnomAD)
TATT=0.000071/1
(TOMMO)
- HGVS:
20.
rs1482572972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 10:22251653
(GRCh38)
10:22540582
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22251652:T:A,NC_000010.11:22251652:T:C
- Gene:
- LOC100130992 (Varview), LOC105376447 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.22251653T>A, NC_000010.11:g.22251653T>C, NC_000010.10:g.22540582T>A, NC_000010.10:g.22540582T>C, XR_001747389.3:n.6121A>T, XR_001747389.3:n.6121A>G, XR_001747389.2:n.2195A>T, XR_001747389.2:n.2195A>G, XR_001747389.1:n.2314A>T, XR_001747389.1:n.2314A>G, XR_001747390.3:n.5400A>T, XR_001747390.3:n.5400A>G, XR_001747390.2:n.1474A>T, XR_001747390.2:n.1474A>G, XR_001747390.1:n.1593A>T, XR_001747390.1:n.1593A>G