Links from Gene
Items: 1 to 20 of 1096
1.
rs1490984040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:73696742
(GRCh38)
6:74406465
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696741:C:G
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
2.
rs1489906120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:73697967
(GRCh38)
6:74407690
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73697966:T:C
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489849269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:73697988
(GRCh38)
6:74407711
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73697987:C:A
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
4.
rs1489818718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:73695701
(GRCh38)
6:74405424
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73695700:T:C
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489495940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:73696477
(GRCh38)
6:74406200
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696476:A:G
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489185849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:73697918
(GRCh38)
6:74407641
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73697917:A:G
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488859344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:73696712
(GRCh38)
6:74406435
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696711:G:C
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
8.
rs1488513096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:73696227
(GRCh38)
6:74405950
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696226:A:G
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant,genic_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:
NC_000006.12:g.73696227A>G, NC_000006.11:g.74405950A>G, NG_033971.1:g.5443A>G, NM_133493.5:c.12A>G, NM_133493.4:c.12A>G, NM_133493.3:c.12A>G, NM_001159587.3:c.12A>G, NM_001159587.2:c.12A>G, NM_001159587.1:c.12A>G, NM_001159588.3:c.12A>G, NM_001159588.2:c.12A>G, NM_001159588.1:c.12A>G
9.
rs1488481932 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:73695202
(GRCh38)
6:74404925
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73695201:T:
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488054091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:73696919
(GRCh38)
6:74406642
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696918:A:C
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1487826686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:73696133
(GRCh38)
6:74405856
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696132:C:A
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
12.
rs1487424488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:73696019
(GRCh38)
6:74405742
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696018:A:G
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1487140582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:73697600
(GRCh38)
6:74407323
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73697599:C:G
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1486866771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:73693757
(GRCh38)
6:74403480
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73693756:G:A
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484907233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:73695725
(GRCh38)
6:74405448
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73695724:G:C
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1484877101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:73694790
(GRCh38)
6:74404513
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73694789:C:T
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000034/9
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1484541967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:73697419
(GRCh38)
6:74407142
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73697418:G:T
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.73697419G>T, NC_000006.11:g.74407142G>T, NG_033971.1:g.6635G>T, NM_133493.5:c.94G>T, NM_133493.4:c.94G>T, NM_133493.3:c.94G>T, NM_001159587.3:c.94G>T, NM_001159587.2:c.94G>T, NM_001159587.1:c.94G>T, NM_001159588.3:c.94G>T, NM_001159588.2:c.94G>T, NM_001159588.1:c.94G>T, XM_047418211.1:c.55G>T, NP_598000.2:p.Ala32Ser, NP_001153059.1:p.Ala32Ser, NP_001153060.1:p.Ala32Ser, XP_047274167.1:p.Ala19Ser
19.
rs1482644882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:73693505
(GRCh38)
6:74403228
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73693504:T:A
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1481492898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:73696511
(GRCh38)
6:74406234
(GRCh37)
- Canonical SPDI:
- NC_000006.12:73696510:T:A
- Gene:
- CD109 (Varview), CD109-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS: