Links from Gene
Items: 1 to 20 of 6982
2.
rs1491341438 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 9:93347618
(GRCh38)
9:96109900
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93347616:CGC:C
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491326463 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCCCCTGTGACTTGCA
[Show Flanks]
- Chromosome:
- 9:93347617
(GRCh38)
9:96109900
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93347617:GCATCCCCTGTGACTTGCA:GCATCCCCTGTGACTTGCATCCCCTGTGACTTGCA
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCATCCCCTGTGACTTGCATCCCCTGTGACTTGCA=0./0
(
ALFA)
GCATCCCCTGTGACTT=0.000007/1
(GnomAD)
GCATCCCCTGTGACTT=0.000026/7
(TOPMED)
- HGVS:
4.
rs1491112160 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:93322320
(GRCh38)
9:96084602
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93322318:TCT:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
-=0.000061/8
(GnomAD)
- HGVS:
5.
rs1490773653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:93326028
(GRCh38)
9:96088310
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93326027:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490725929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:93341712
(GRCh38)
9:96103994
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93341711:C:G
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490548296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:93347888
(GRCh38)
9:96110170
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93347887:T:A
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
8.
rs1490522702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:93334334
(GRCh38)
9:96096616
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93334333:T:C
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490470640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:93335278
(GRCh38)
9:96097560
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93335277:C:T
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490417606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:93332614
(GRCh38)
9:96094896
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93332613:G:A
- Gene:
- C9orf129 (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:
11.
rs1490267842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:93327520
(GRCh38)
9:96089802
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93327519:A:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489994237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 9:93321748
(GRCh38)
9:96084030
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93321747:C:A,NC_000009.12:93321747:C:G,NC_000009.12:93321747:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0./0
(KOREAN)
T=0.000004/1
(TOPMED)
G=0.000071/1
(TOMMO)
- HGVS:
15.
rs1489955672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:93336722
(GRCh38)
9:96099004
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93336721:G:A
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489756960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:93328021
(GRCh38)
9:96090303
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93328020:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489597386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:93339694
(GRCh38)
9:96101976
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93339693:G:T
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489483523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:93337461
(GRCh38)
9:96099743
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93337460:A:G
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1489294115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:93340763
(GRCh38)
9:96103045
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93340762:A:G
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
20.
rs1489080616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:93343509
(GRCh38)
9:96105791
(GRCh37)
- Canonical SPDI:
- NC_000009.12:93343508:T:C
- Gene:
- C9orf129 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: