Links from Gene
Items: 1 to 20 of 3101
1.
rs1491466101 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 15:22612812
(GRCh38)
15:23260282
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22612812:AT:ATAT
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
AT=0.000176/24
(GnomAD)
- HGVS:
2.
rs1491414317 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 15:22612784
(GRCh38)
15:23260311
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22612783:TA:
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00396/47
(
ALFA)
-=0.00138/23
(TOMMO)
-=0.0053/8
(Korea1K)
- HGVS:
3.
rs1491307666 has merged into rs60873077 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 15:22612798
(GRCh38)
15:23260296
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:22612784:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.22612786CA[6], NC_000015.10:g.22612786CA[8], NC_000015.10:g.22612786CA[9], NC_000015.10:g.22612786CA[10], NC_000015.10:g.22612786CA[11], NC_000015.10:g.22612786CA[12], NC_000015.10:g.22612786CA[13], NC_000015.10:g.22612786CA[15], NC_000015.10:g.22612786CA[16], NC_000015.10:g.22612786CA[17], NC_000015.10:g.22612786CA[18], NC_000015.10:g.22612786CA[19], NC_000015.10:g.22612786CA[20], NC_000015.10:g.22612786CA[21], NC_000015.10:g.22612786CA[22], NC_000015.10:g.22612786CA[23], NC_000015.9:g.23260284GT[6], NC_000015.9:g.23260284GT[8], NC_000015.9:g.23260284GT[9], NC_000015.9:g.23260284GT[10], NC_000015.9:g.23260284GT[11], NC_000015.9:g.23260284GT[12], NC_000015.9:g.23260284GT[13], NC_000015.9:g.23260284GT[15], NC_000015.9:g.23260284GT[16], NC_000015.9:g.23260284GT[17], NC_000015.9:g.23260284GT[18], NC_000015.9:g.23260284GT[19], NC_000015.9:g.23260284GT[20], NC_000015.9:g.23260284GT[21], NC_000015.9:g.23260284GT[22], NC_000015.9:g.23260284GT[23], NW_021160017.1:g.3507133CA[11], NW_021160017.1:g.3507133CA[13], NW_021160017.1:g.3507133CA[14], NW_021160017.1:g.3507133CA[15], NW_021160017.1:g.3507133CA[16], NW_021160017.1:g.3507133CA[17], NW_021160017.1:g.3507133CA[18], NW_021160017.1:g.3507133CA[20], NW_021160017.1:g.3507133CA[21], NW_021160017.1:g.3507133CA[22], NW_021160017.1:g.3507133CA[23], NW_021160017.1:g.3507133CA[24], NW_021160017.1:g.3507133CA[25], NW_021160017.1:g.3507133CA[26], NW_021160017.1:g.3507133CA[27], NW_021160017.1:g.3507133CA[28], NT_187604.1:g.257122CA[14], NT_187604.1:g.257122CA[6], NT_187604.1:g.257122CA[8], NT_187604.1:g.257122CA[9], NT_187604.1:g.257122CA[10], NT_187604.1:g.257122CA[11], NT_187604.1:g.257122CA[13], NT_187604.1:g.257122CA[15], NT_187604.1:g.257122CA[16], NT_187604.1:g.257122CA[17], NT_187604.1:g.257122CA[18], NT_187604.1:g.257122CA[19], NT_187604.1:g.257122CA[20], NT_187604.1:g.257122CA[21], NT_187604.1:g.257122CA[22], NT_187604.1:g.257122CA[23]
4.
rs1491190444 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:22619251
(GRCh38)
15:23253844
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22619250:AT:
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
-=0.00004/1
(TOMMO)
-=0.00332/6
(Korea1K)
- HGVS:
5.
rs1491011057 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:22612813
(GRCh38)
15:23260282
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22612812:AT:
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000147/20
(GnomAD)
-=0.000248/4
(TOMMO)
- HGVS:
6.
rs1490860415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:22613125
(GRCh38)
15:23259971
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22613124:C:T
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
7.
rs1490508965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:22615324
(GRCh38)
15:23257772
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22615323:C:G
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490437427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:22613963
(GRCh38)
15:23259133
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22613962:A:C
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.00003/4
(GnomAD)
- HGVS:
9.
rs1490370191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:22612060
(GRCh38)
15:23261036
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22612059:T:C
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000279/39
(GnomAD)
C=0.001405/9
(1000Genomes)
G=0.004296/72
(TOMMO)
- HGVS:
10.
rs1490298566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:22612365
(GRCh38)
15:23260731
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22612364:A:C,NC_000015.10:22612364:A:G
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
11.
rs1490147000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 15:22613185
(GRCh38)
15:23259911
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22613184:T:C,NC_000015.10:22613184:T:G
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000021/3
(GnomAD_exomes)
C=0.000179/3
(TOMMO)
- HGVS:
NC_000015.10:g.22613185T>C, NC_000015.10:g.22613185T>G, NC_000015.9:g.23259911A>G, NC_000015.9:g.23259911A>C, NW_021160017.1:g.3507542T>C, NW_021160017.1:g.3507542T>G, NT_187604.1:g.257517T>C, NT_187604.1:g.257517T>G, NR_024074.2:n.880A>G, NR_024074.2:n.880A>C, NR_024074.1:n.880A>G, NR_024074.1:n.880A>C, NM_173613.1:c.338A>G, NM_173613.1:c.338A>C
13.
rs1489935143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:22611780
(GRCh38)
15:23261316
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22611779:A:C,NC_000015.10:22611779:A:G
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/1
(GnomAD_exomes)
- HGVS:
NC_000015.10:g.22611780A>C, NC_000015.10:g.22611780A>G, NC_000015.9:g.23261316T>G, NC_000015.9:g.23261316T>C, NW_021160017.1:g.3506127A>C, NW_021160017.1:g.3506127A>G, NT_187604.1:g.256116A>C, NT_187604.1:g.256116A>G, NR_024074.2:n.1095T>G, NR_024074.2:n.1095T>C, NR_024074.1:n.1095T>G, NR_024074.1:n.1095T>C, NM_173613.1:c.553T>G, NM_173613.1:c.553T>C
14.
rs1489909938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:22610806
(GRCh38)
15:23262290
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22610805:T:C
- Gene:
- GOLGA8IP (Varview), LOC101927846 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
C=0.000029/4
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
16.
rs1489673683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:22610753
(GRCh38)
15:23262343
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22610752:C:G,NC_000015.10:22610752:C:T
- Gene:
- GOLGA8IP (Varview), LOC101927846 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000013/3
(GnomAD_exomes)
- HGVS:
NC_000015.10:g.22610753C>G, NC_000015.10:g.22610753C>T, NC_000015.9:g.23262343G>C, NC_000015.9:g.23262343G>A, NW_021160017.1:g.3505092C>G, NW_021160017.1:g.3505092C>T, NT_187604.1:g.255089C>G, NT_187604.1:g.255089C>T, NR_024074.2:n.1499G>C, NR_024074.2:n.1499G>A, NR_024074.1:n.1499G>C, NR_024074.1:n.1499G>A, NM_173613.1:c.957G>C, NM_173613.1:c.957G>A
17.
rs1489371007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:22617765
(GRCh38)
15:23255331
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22617764:G:C
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489257165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:22617026
(GRCh38)
15:23256070
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22617025:C:G,NC_000015.10:22617025:C:T
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489214458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:22615200
(GRCh38)
15:23257896
(GRCh37)
- Canonical SPDI:
- NC_000015.10:22615199:C:G,NC_000015.10:22615199:C:T
- Gene:
- GOLGA8IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000029/4
(GnomAD)
- HGVS: