Links from Gene
Items: 1 to 20 of 1000
1.
rs1489954913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:63972863
(GRCh38)
11:63740335
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63972862:A:G
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489388144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:63975690
(GRCh38)
11:63743162
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63975689:C:T
- Gene:
- COX8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
3.
rs1489019398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:63973312
(GRCh38)
11:63740784
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63973311:G:A
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488925581 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGAC>-
[Show Flanks]
- Chromosome:
- 11:63976491
(GRCh38)
11:63743963
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63976488:ACTGAC:AC
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
-=0.0001/14
(GnomAD)
-=0.000159/42
(TOPMED)
-=0.001405/9
(1000Genomes)
-=0.001699/28
(TOMMO)
- HGVS:
5.
rs1488269278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:63974608
(GRCh38)
11:63742080
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63974607:G:A
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1488128432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 11:63976510
(GRCh38)
11:63743982
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63976509:CCCCC:CCCC
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487288055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:63975449
(GRCh38)
11:63742921
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63975448:T:G
- Gene:
- COX8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1487285869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:63976214
(GRCh38)
11:63743686
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63976213:G:C
- Gene:
- COX8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486805326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:63974280
(GRCh38)
11:63741752
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63974279:C:G,NC_000011.10:63974279:C:T
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1485784509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:63975576
(GRCh38)
11:63743048
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63975575:T:G
- Gene:
- COX8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1485168370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:63973952
(GRCh38)
11:63741424
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63973951:A:C,NC_000011.10:63973951:A:G
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 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:
14.
rs1484244449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:63974004
(GRCh38)
11:63741476
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63974003:A:C,NC_000011.10:63974003:A:G
- Gene:
- COX8A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483886290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:63974830
(GRCh38)
11:63742302
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63974829:G:A,NC_000011.10:63974829:G:T
- Gene:
- COX8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483398721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTGTTTTTTATT>-
[Show Flanks]
- Chromosome:
- 11:63973671
(GRCh38)
11:63741143
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63973661:TTTTTTATTGTTGTTTTTTATT:TTTTTTATT
- Gene:
- COX8A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTATT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1483264602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:63974338
(GRCh38)
11:63741810
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63974337:T:A
- Gene:
- COX8A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1483012406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:63975401
(GRCh38)
11:63742873
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63975400:T:A
- Gene:
- COX8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00039/11
(TOMMO)
- HGVS:
19.
rs1482750431 has merged into rs60040549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:63972866
(GRCh38)
11:63740338
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:63972855:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- COX8A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAA=0./0
(GENOME_DK)
-=0.38518/1929
(1000Genomes)
- HGVS:
NC_000011.10:g.63972866_63972878del, NC_000011.10:g.63972867_63972878del, NC_000011.10:g.63972868_63972878del, NC_000011.10:g.63972869_63972878del, NC_000011.10:g.63972870_63972878del, NC_000011.10:g.63972871_63972878del, NC_000011.10:g.63972872_63972878del, NC_000011.10:g.63972873_63972878del, NC_000011.10:g.63972874_63972878del, NC_000011.10:g.63972875_63972878del, NC_000011.10:g.63972876_63972878del, NC_000011.10:g.63972877_63972878del, NC_000011.10:g.63972878del, NC_000011.10:g.63972878dup, NC_000011.10:g.63972877_63972878dup, NC_000011.10:g.63972876_63972878dup, NC_000011.10:g.63972874_63972878dup, NC_000011.9:g.63740338_63740350del, NC_000011.9:g.63740339_63740350del, NC_000011.9:g.63740340_63740350del, NC_000011.9:g.63740341_63740350del, NC_000011.9:g.63740342_63740350del, NC_000011.9:g.63740343_63740350del, NC_000011.9:g.63740344_63740350del, NC_000011.9:g.63740345_63740350del, NC_000011.9:g.63740346_63740350del, NC_000011.9:g.63740347_63740350del, NC_000011.9:g.63740348_63740350del, NC_000011.9:g.63740349_63740350del, NC_000011.9:g.63740350del, NC_000011.9:g.63740350dup, NC_000011.9:g.63740349_63740350dup, NC_000011.9:g.63740348_63740350dup, NC_000011.9:g.63740346_63740350dup, NG_046750.1:g.3260_3272del, NG_046750.1:g.3261_3272del, NG_046750.1:g.3262_3272del, NG_046750.1:g.3263_3272del, NG_046750.1:g.3264_3272del, NG_046750.1:g.3265_3272del, NG_046750.1:g.3266_3272del, NG_046750.1:g.3267_3272del, NG_046750.1:g.3268_3272del, NG_046750.1:g.3269_3272del, NG_046750.1:g.3270_3272del, NG_046750.1:g.3271_3272del, NG_046750.1:g.3272del, NG_046750.1:g.3272dup, NG_046750.1:g.3271_3272dup, NG_046750.1:g.3270_3272dup, NG_046750.1:g.3268_3272dup
20.
rs1482649944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:63973202
(GRCh38)
11:63740674
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63973201:G:A
- Gene:
- COX8A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: