Links from Gene
Items: 1 to 20 of 9892
2.
rs1491548293 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 8:56518420
(GRCh38)
8:57430980
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56518420:ATATATATATA:ATATATATATATA
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATA=0./0
(
ALFA)
AT=0.000021/3
(GnomAD)
AT=0.000023/6
(TOPMED)
- HGVS:
3.
rs1491323528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:56532502
(GRCh38)
8:57445062
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56532502:TTTTTT:TTTTTTT
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490997887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:56526257
(GRCh38)
8:57438816
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56526256:T:C
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- 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:
7.
rs1490981987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:56539684
(GRCh38)
8:57452243
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56539683:G:A
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490948442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:56523674
(GRCh38)
8:57436233
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56523673:G:C
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490926450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:56540471
(GRCh38)
8:57453030
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56540470:G:T
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490916964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:56558013
(GRCh38)
8:57470572
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56558012:A:G
- Gene:
- LINC00968 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490907573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:56554307
(GRCh38)
8:57466866
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56554306:T:G
- Gene:
- LINC00968 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490901796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:56555082
(GRCh38)
8:57467641
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56555081:G:T
- Gene:
- LINC00968 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.002013/9
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.002009/9
(Estonian)
- HGVS:
14.
rs1490577470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:56532186
(GRCh38)
8:57444745
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56532185:C:T
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490561625 has merged into rs371054390 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 8:56533097
(GRCh38)
8:57445656
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.56533075CA[11], NC_000008.11:g.56533075CA[12], NC_000008.11:g.56533075CA[13], NC_000008.11:g.56533075CA[14], NC_000008.11:g.56533075CA[15], NC_000008.11:g.56533075CA[16], NC_000008.11:g.56533075CA[17], NC_000008.11:g.56533075CA[18], NC_000008.11:g.56533075CA[19], NC_000008.11:g.56533075CA[20], NC_000008.11:g.56533075CA[21], NC_000008.11:g.56533075CA[23], NC_000008.11:g.56533075CA[24], NC_000008.11:g.56533075CA[25], NC_000008.11:g.56533075CA[26], NC_000008.11:g.56533075CA[27], NC_000008.11:g.56533075CA[28], NC_000008.11:g.56533075CA[29], NC_000008.11:g.56533075CA[30], NC_000008.11:g.56533075CA[31], NC_000008.11:g.56533075CA[33], NC_000008.10:g.57445634CA[11], NC_000008.10:g.57445634CA[12], NC_000008.10:g.57445634CA[13], NC_000008.10:g.57445634CA[14], NC_000008.10:g.57445634CA[15], NC_000008.10:g.57445634CA[16], NC_000008.10:g.57445634CA[17], NC_000008.10:g.57445634CA[18], NC_000008.10:g.57445634CA[19], NC_000008.10:g.57445634CA[20], NC_000008.10:g.57445634CA[21], NC_000008.10:g.57445634CA[23], NC_000008.10:g.57445634CA[24], NC_000008.10:g.57445634CA[25], NC_000008.10:g.57445634CA[26], NC_000008.10:g.57445634CA[27], NC_000008.10:g.57445634CA[28], NC_000008.10:g.57445634CA[29], NC_000008.10:g.57445634CA[30], NC_000008.10:g.57445634CA[31], NC_000008.10:g.57445634CA[33]
16.
rs1490491550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:56539413
(GRCh38)
8:57451972
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56539412:C:T
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490463384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:56552801
(GRCh38)
8:57465360
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56552800:A:T
- Gene:
- LINC00968 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490417504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:56553711
(GRCh38)
8:57466270
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56553710:G:C
- Gene:
- LINC00968 (Varview)
- Functional Consequence:
- 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:
19.
rs1490220474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:56541943
(GRCh38)
8:57454502
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56541942:T:C
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490195455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:56538548
(GRCh38)
8:57451107
(GRCh37)
- Canonical SPDI:
- NC_000008.11:56538547:G:T
- Gene:
- LINC00968 (Varview), PENK-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS: