Links from Gene
Items: 1 to 20 of 6610
1.
rs1491390690 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 9:21038473
(GRCh38)
9:21038472
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21038472:GT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000053/14
(TOPMED)
-=0.000168/7
(GnomAD)
- HGVS:
2.
rs1491088457 has merged into rs57245979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:21030278
(GRCh38)
9:21030277
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HACD4 (Varview), LOC105375989 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.393/1968
(1000Genomes)
- HGVS:
NC_000009.12:g.21030278_21030287del, NC_000009.12:g.21030280_21030287del, NC_000009.12:g.21030283_21030287del, NC_000009.12:g.21030284_21030287del, NC_000009.12:g.21030285_21030287del, NC_000009.12:g.21030286_21030287del, NC_000009.12:g.21030287del, NC_000009.12:g.21030287dup, NC_000009.12:g.21030286_21030287dup, NC_000009.12:g.21030285_21030287dup, NC_000009.12:g.21030284_21030287dup, NC_000009.12:g.21030283_21030287dup, NC_000009.12:g.21030282_21030287dup, NC_000009.12:g.21030281_21030287dup, NC_000009.11:g.21030277_21030286del, NC_000009.11:g.21030279_21030286del, NC_000009.11:g.21030282_21030286del, NC_000009.11:g.21030283_21030286del, NC_000009.11:g.21030284_21030286del, NC_000009.11:g.21030285_21030286del, NC_000009.11:g.21030286del, NC_000009.11:g.21030286dup, NC_000009.11:g.21030285_21030286dup, NC_000009.11:g.21030284_21030286dup, NC_000009.11:g.21030283_21030286dup, NC_000009.11:g.21030282_21030286dup, NC_000009.11:g.21030281_21030286dup, NC_000009.11:g.21030280_21030286dup
3.
rs1490986364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:21031303
(GRCh38)
9:21031302
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21031302:G:T
- Gene:
- HACD4 (Varview), LOC105375989 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.003275/6
(Korea1K)
- HGVS:
4.
rs1490766213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:21038591
(GRCh38)
9:21038590
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21038590:A:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490654979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:21052917
(GRCh38)
9:21052916
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21052916:C:G,NC_000009.12:21052916:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
6.
rs1490601054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:21039042
(GRCh38)
9:21039041
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21039041:A:C,NC_000009.12:21039041:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00467/1
(Vietnamese)
- HGVS:
7.
rs1490591070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:21038224
(GRCh38)
9:21038223
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21038223:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490542487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:21036703
(GRCh38)
9:21036702
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21036702:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490470442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:21050441
(GRCh38)
9:21050440
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21050440:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490439120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:21052771
(GRCh38)
9:21052770
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21052770:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490365751 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:21045751
(GRCh38)
9:21045750
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21045750:AT:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490216801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:21034663
(GRCh38)
9:21034662
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21034662:C:A,NC_000009.12:21034662:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490206271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:21046231
(GRCh38)
9:21046230
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21046230:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489979965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:21049527
(GRCh38)
9:21049526
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21049526:A:G,NC_000009.12:21049526:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
15.
rs1489953897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:21051643
(GRCh38)
9:21051642
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21051642:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
16.
rs1489532177 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 9:21046282
(GRCh38)
9:21046282
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21046282:TCT:TCTCT
- Validated:
- by frequency,by alfa
- MAF:
TCTCT=0.000071/1
(
ALFA)
TC=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489246850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:21040185
(GRCh38)
9:21040184
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21040184:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
18.
rs1489209690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:21031080
(GRCh38)
9:21031079
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21031079:T:C
- Gene:
- HACD4 (Varview), LOC105375989 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1489152070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:21036612
(GRCh38)
9:21036611
(GRCh37)
- Canonical SPDI:
- NC_000009.12:21036611:TTTT:TTT
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS: