Links from Gene
Items: 1 to 20 of 32677
1.
rs1491573976 has merged into rs555669162 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGGGAGAGGGA>-,GAGGGA,GAGGGAGAGGGAGAGGGA
[Show Flanks]
- Chromosome:
- 16:8733829
(GRCh38)
16:8827686
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8733814:GAGAGGGAGAGGGAGAGGGAGAGGGA:GAGAGGGAGAGGGA,NC_000016.10:8733814:GAGAGGGAGAGGGAGAGGGAGAGGGA:GAGAGGGAGAGGGAGAGGGA,NC_000016.10:8733814:GAGAGGGAGAGGGAGAGGGAGAGGGA:GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGGGAGAGGGAGAGGGA=0./0
(
ALFA)
-=0.001667/1
(NorthernSweden)
-=0.00276/46
(TOMMO)
-=0.008586/43
(1000Genomes)
-=0.01113/2946
(TOPMED)
- HGVS:
2.
rs1491569008 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AAA,AAAA,AAAGA,AAAGAAA,AAAGAAAGAAAGAAA,AAAGAAAGAAAGAAAGAAA,AAAGAAAGAAAGAAAGAAAGAAA
[Show Flanks]
- Chromosome:
- 16:8737988
(GRCh38)
16:8831846
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8737988::A,NC_000016.10:8737988::AAA,NC_000016.10:8737988::AAAA,NC_000016.10:8737988::AAAGA,NC_000016.10:8737988::AAAGAAA,NC_000016.10:8737988::AAAGAAAGAAAGAAA,NC_000016.10:8737988::AAAGAAAGAAAGAAAGAAA,NC_000016.10:8737988::AAAGAAAGAAAGAAAGAAAGAAA
- Gene:
- ABAT (Varview), LOC107984840 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.8737988_8737989insA, NC_000016.10:g.8737988_8737989insAAA, NC_000016.10:g.8737988_8737989insAAAA, NC_000016.10:g.8737988_8737989insAAAGA, NC_000016.10:g.8737988_8737989insAAAGAAA, NC_000016.10:g.8737988_8737989insAAAGAAAGAAAGAAA, NC_000016.10:g.8737988_8737989insAAAGAAAGAAAGAAAGAAA, NC_000016.10:g.8737988_8737989insAAAGAAAGAAAGAAAGAAAGAAA, NC_000016.9:g.8831845_8831846insA, NC_000016.9:g.8831845_8831846insAAA, NC_000016.9:g.8831845_8831846insAAAA, NC_000016.9:g.8831845_8831846insAAAGA, NC_000016.9:g.8831845_8831846insAAAGAAA, NC_000016.9:g.8831845_8831846insAAAGAAAGAAAGAAA, NC_000016.9:g.8831845_8831846insAAAGAAAGAAAGAAAGAAA, NC_000016.9:g.8831845_8831846insAAAGAAAGAAAGAAAGAAAGAAA, NG_008432.1:g.68402_68403insA, NG_008432.1:g.68402_68403insAAA, NG_008432.1:g.68402_68403insAAAA, NG_008432.1:g.68402_68403insAAAGA, NG_008432.1:g.68402_68403insAAAGAAA, NG_008432.1:g.68402_68403insAAAGAAAGAAAGAAA, NG_008432.1:g.68402_68403insAAAGAAAGAAAGAAAGAAA, NG_008432.1:g.68402_68403insAAAGAAAGAAAGAAAGAAAGAAA
3.
rs1491530522 has merged into rs1406154613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAGAGAG
[Show Flanks]
- Chromosome:
- 16:8733816
(GRCh38)
16:8827673
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8733813:AGAGAG:AG,NC_000016.10:8733813:AGAGAG:AGAG,NC_000016.10:8733813:AGAGAG:AGAGAGAGAGAG
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAG=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
4.
rs1491528450 has merged into rs143434735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT,TTTT
[Show Flanks]
- Chromosome:
- 16:8699984
(GRCh38)
16:8793841
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8699983:TTTTTTTTT:TTTTTTTT,NC_000016.10:8699983:TTTTTTTTT:TTTTTTTTTT,NC_000016.10:8699983:TTTTTTTTT:TTTTTTTTTTT,NC_000016.10:8699983:TTTTTTTTT:TTTTTTTTTTTT
- Gene:
- ABAT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.01002/10
(GoNL)
-=0.01167/7
(NorthernSweden)
-=0.04832/242
(1000Genomes)
-=0.05/2
(GENOME_DK)
T=0.11551/1936
(TOMMO)
-=0.13865/254
(Korea1K)
- HGVS:
NC_000016.10:g.8699992del, NC_000016.10:g.8699992dup, NC_000016.10:g.8699991_8699992dup, NC_000016.10:g.8699990_8699992dup, NC_000016.9:g.8793849del, NC_000016.9:g.8793849dup, NC_000016.9:g.8793848_8793849dup, NC_000016.9:g.8793847_8793849dup, NG_008432.1:g.30406del, NG_008432.1:g.30406dup, NG_008432.1:g.30405_30406dup, NG_008432.1:g.30404_30406dup
6.
rs1491511526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:8699323
(GRCh38)
16:8793180
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8699321:TAT:T
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491501000 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 16:8737988
(GRCh38)
16:8831845
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8737987:GG:
- Gene:
- ABAT (Varview), LOC107984840 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00118/14
(
ALFA)
-=0.00022/3
(TOMMO)
-=0.00205/118
(GnomAD)
- HGVS:
9.
rs1491495794 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT
[Show Flanks]
- Chromosome:
- 16:8673394
(GRCh38)
16:8767252
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8673394:T:TGT,NC_000016.10:8673394:T:TGTGT,NC_000016.10:8673394:T:TGTGTGT,NC_000016.10:8673394:T:TGTGTGTGT,NC_000016.10:8673394:T:TGTGTGTGTGT
- Gene:
- ABAT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.8673395_8673396insGT, NC_000016.10:g.8673395_8673396insGTGT, NC_000016.10:g.8673396GT[3], NC_000016.10:g.8673396GT[4], NC_000016.10:g.8673396GT[5], NC_000016.9:g.8767252_8767253insGT, NC_000016.9:g.8767252_8767253insGTGT, NC_000016.9:g.8767253GT[3], NC_000016.9:g.8767253GT[4], NC_000016.9:g.8767253GT[5], NG_008432.1:g.3809_3810insGT, NG_008432.1:g.3809_3810insGTGT, NG_008432.1:g.3810GT[3], NG_008432.1:g.3810GT[4], NG_008432.1:g.3810GT[5]
11.
rs1491475616 has merged into rs1379164819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA
[Show Flanks]
- Chromosome:
- 16:8769588
(GRCh38)
16:8863445
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000016.10:8769578:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.8769580GA[4], NC_000016.10:g.8769580GA[5], NC_000016.10:g.8769580GA[7], NC_000016.10:g.8769580GA[8], NC_000016.10:g.8769580GA[9], NC_000016.9:g.8863437GA[4], NC_000016.9:g.8863437GA[5], NC_000016.9:g.8863437GA[7], NC_000016.9:g.8863437GA[8], NC_000016.9:g.8863437GA[9], NG_008432.1:g.99994GA[4], NG_008432.1:g.99994GA[5], NG_008432.1:g.99994GA[7], NG_008432.1:g.99994GA[8], NG_008432.1:g.99994GA[9]
12.
rs1491454805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 16:8707186
(GRCh38)
16:8801044
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8707186:TTTTTTT:TTTTTTTT
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
14.
rs1491417384 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:8691048
(GRCh38)
16:8784905
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8691047:GA:
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000015/2
(GnomAD)
- HGVS:
15.
rs1491409443 has merged into rs762237876 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 16:8710690
(GRCh38)
16:8804547
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8710683:GAGAGAGAGA:GAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:8710683:GAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- ABAT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGA=0./0
(
ALFA)
-=0.000121/32
(TOPMED)
GAGAGAGAGAGAGAGAGAGAGAGA=0.001724/1
(NorthernSweden)
- HGVS:
NC_000016.10:g.8710684GA[3], NC_000016.10:g.8710684GA[4], NC_000016.10:g.8710684GA[6], NC_000016.10:g.8710684GA[7], NC_000016.10:g.8710684GA[8], NC_000016.10:g.8710684GA[9], NC_000016.10:g.8710684GA[10], NC_000016.10:g.8710684GA[11], NC_000016.10:g.8710684GA[12], NC_000016.10:g.8710684GA[13], NC_000016.10:g.8710684GA[14], NC_000016.10:g.8710684GA[15], NC_000016.10:g.8710684GA[16], NC_000016.10:g.8710684GA[17], NC_000016.10:g.8710684GA[18], NC_000016.10:g.8710684GA[19], NC_000016.10:g.8710684GA[20], NC_000016.10:g.8710684GA[21], NC_000016.10:g.8710684GA[23], NC_000016.9:g.8804541GA[3], NC_000016.9:g.8804541GA[4], NC_000016.9:g.8804541GA[6], NC_000016.9:g.8804541GA[7], NC_000016.9:g.8804541GA[8], NC_000016.9:g.8804541GA[9], NC_000016.9:g.8804541GA[10], NC_000016.9:g.8804541GA[11], NC_000016.9:g.8804541GA[12], NC_000016.9:g.8804541GA[13], NC_000016.9:g.8804541GA[14], NC_000016.9:g.8804541GA[15], NC_000016.9:g.8804541GA[16], NC_000016.9:g.8804541GA[17], NC_000016.9:g.8804541GA[18], NC_000016.9:g.8804541GA[19], NC_000016.9:g.8804541GA[20], NC_000016.9:g.8804541GA[21], NC_000016.9:g.8804541GA[23], NG_008432.1:g.41098GA[3], NG_008432.1:g.41098GA[4], NG_008432.1:g.41098GA[6], NG_008432.1:g.41098GA[7], NG_008432.1:g.41098GA[8], NG_008432.1:g.41098GA[9], NG_008432.1:g.41098GA[10], NG_008432.1:g.41098GA[11], NG_008432.1:g.41098GA[12], NG_008432.1:g.41098GA[13], NG_008432.1:g.41098GA[14], NG_008432.1:g.41098GA[15], NG_008432.1:g.41098GA[16], NG_008432.1:g.41098GA[17], NG_008432.1:g.41098GA[18], NG_008432.1:g.41098GA[19], NG_008432.1:g.41098GA[20], NG_008432.1:g.41098GA[21], NG_008432.1:g.41098GA[23]
16.
rs1491408889 has merged into rs1418805329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G
[Show Flanks]
- Chromosome:
- 16:8711723
(GRCh38)
16:8805580
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8711721:GGG:G,NC_000016.10:8711721:GGG:GG
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.00396/97
(TOMMO)
- HGVS:
17.
rs1491402629 has merged into rs1202977957 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCC>-,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC
[Show Flanks]
- Chromosome:
- 16:8733133
(GRCh38)
16:8826990
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8733127:CCCCCCCCC:CCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCCCC,NC_000016.10:8733127:CCCCCCCCC:CCCCCCCCCCCCC
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
C=0.015101/9
(NorthernSweden)
- HGVS:
NC_000016.10:g.8733133_8733136del, NC_000016.10:g.8733135_8733136del, NC_000016.10:g.8733136del, NC_000016.10:g.8733136dup, NC_000016.10:g.8733135_8733136dup, NC_000016.10:g.8733134_8733136dup, NC_000016.10:g.8733133_8733136dup, NC_000016.9:g.8826990_8826993del, NC_000016.9:g.8826992_8826993del, NC_000016.9:g.8826993del, NC_000016.9:g.8826993dup, NC_000016.9:g.8826992_8826993dup, NC_000016.9:g.8826991_8826993dup, NC_000016.9:g.8826990_8826993dup, NG_008432.1:g.63547_63550del, NG_008432.1:g.63549_63550del, NG_008432.1:g.63550del, NG_008432.1:g.63550dup, NG_008432.1:g.63549_63550dup, NG_008432.1:g.63548_63550dup, NG_008432.1:g.63547_63550dup
20.
rs1491382772 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 16:8732197
(GRCh38)
16:8826055
(GRCh37)
- Canonical SPDI:
- NC_000016.10:8732197:T:TGT
- Gene:
- ABAT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00019/1
(GnomAD)
- HGVS: