Links from Gene
Items: 1 to 20 of 900
1.
rs1490631327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:123365177
(GRCh38)
12:123849724
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123365176:A:G
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490397210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:123365711
(GRCh38)
12:123850258
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123365710:C:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489113551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:123364337
(GRCh38)
12:123848884
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123364336:C:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
4.
rs1488523416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:123366505
(GRCh38)
12:123851052
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366504:G:A,NC_000012.12:123366504:G:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488480485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:123366006
(GRCh38)
12:123850553
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366005:A:G
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488153819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:123365632
(GRCh38)
12:123850179
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123365631:G:A
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487408473 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TAAT>-
[Show Flanks]
- Chromosome:
- 12:123366082
(GRCh38)
12:123850629
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366081:TAAT:
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1484486275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:123366705
(GRCh38)
12:123851252
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366704:C:A
- Gene:
- SBNO1 (Varview), MIR8072 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00059/9
(
ALFA)
A=0.00131/22
(TOMMO)
A=0.00201/9
(Estonian)
A=0.00274/8
(KOREAN)
A=0.0039/25
(1000Genomes)
- HGVS:
9.
rs1484379361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:123364689
(GRCh38)
12:123849236
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123364688:G:A,NC_000012.12:123364688:G:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
10.
rs1484288310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:123364394
(GRCh38)
12:123848941
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123364393:C:A,NC_000012.12:123364393:C:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1483275742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:123364809
(GRCh38)
12:123849356
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123364808:C:G,NC_000012.12:123364808:C:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
NC_000012.12:g.123364809C>G, NC_000012.12:g.123364809C>T, NC_000012.11:g.123849356C>G, NC_000012.11:g.123849356C>T, NG_052874.1:g.5401G>C, NG_052874.1:g.5401G>A, NM_018183.5:c.-109G>C, NM_018183.5:c.-109G>A, NM_018183.4:c.-109G>C, NM_018183.4:c.-109G>A, NM_001167856.3:c.-109G>C, NM_001167856.3:c.-109G>A, NM_001167856.2:c.-109G>C, NM_001167856.2:c.-109G>A, NR_107039.1:n.35G>C, NR_107039.1:n.35G>A
13.
rs1482795696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:123366692
(GRCh38)
12:123851239
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366691:C:T
- Gene:
- SBNO1 (Varview), MIR8072 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1481385370 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GCGAAGGCCACC>-
[Show Flanks]
- Chromosome:
- 12:123365186
(GRCh38)
12:123849733
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123365185:GCGAAGGCCACC:
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1481359197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:123366712
(GRCh38)
12:123851259
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366711:G:C
- Gene:
- SBNO1 (Varview), MIR8072 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00066/10
(
ALFA)
C=0.000023/3
(GnomAD)
C=0.001522/26
(TOMMO)
C=0.002232/10
(Estonian)
C=0.002738/8
(KOREAN)
C=0.003904/25
(1000Genomes)
- HGVS:
16.
rs1481331429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:123365780
(GRCh38)
12:123850327
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123365779:T:A
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1481285065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:123366144
(GRCh38)
12:123850691
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123366143:T:C,NC_000012.12:123366143:T:G
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1481070449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:123364798
(GRCh38)
12:123849345
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123364797:G:A
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1479376638 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:123364962
(GRCh38)
12:123849510
(GRCh37)
- Canonical SPDI:
- NC_000012.12:123364962:CCCC:CCCCC
- Gene:
- SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0.000084/1
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS: