Links from Gene
Items: 1 to 20 of 13364
1.
rs1491570595 has merged into rs3835093 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC
[Show Flanks]
- Chromosome:
- 2:118990568
(GRCh38)
2:119748144
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCCCC
- Gene:
- MARCO (Varview), LOC124906072 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCC=0./0
(
ALFA)
C=0.00952/20
(1000Genomes)
-=0.27686/1067
(ALSPAC)
-=0.27833/167
(NorthernSweden)
-=0.28776/1067
(TWINSUK)
-=0.34056/1523
(Estonian)
- HGVS:
2.
rs1491545467 has merged into rs543393291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 2:118991265
(GRCh38)
2:119748841
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- MARCO (Varview), LOC124906072 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3563/1321
(TWINSUK)
-=0.3638/1402
(ALSPAC)
T=0.4491/2249
(1000Genomes)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000002.12:g.118991265_118991266del, NC_000002.12:g.118991266del, NC_000002.12:g.118991266dup, NC_000002.12:g.118991265_118991266dup, NC_000002.12:g.118991264_118991266dup, NC_000002.12:g.118991263_118991266dup, NC_000002.11:g.119748841_119748842del, NC_000002.11:g.119748842del, NC_000002.11:g.119748842dup, NC_000002.11:g.119748841_119748842dup, NC_000002.11:g.119748840_119748842dup, NC_000002.11:g.119748839_119748842dup
4.
rs1491447761 has merged into rs377378761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA,AAAA,AAAGAAAAA
[Show Flanks]
- Chromosome:
- 2:118986699
(GRCh38)
2:119744275
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118986697:AAA:A,NC_000002.12:118986697:AAA:AAAA,NC_000002.12:118986697:AAA:AAAAA,NC_000002.12:118986697:AAA:AAAAGAAAAA
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.00015/2
(TOMMO)
- HGVS:
6.
rs1491296801 has merged into rs35333881 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:118958419
(GRCh38)
2:119715995
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2079/1041
(1000Genomes)
- HGVS:
NC_000002.12:g.118958419_118958422del, NC_000002.12:g.118958420_118958422del, NC_000002.12:g.118958421_118958422del, NC_000002.12:g.118958422del, NC_000002.12:g.118958422dup, NC_000002.12:g.118958421_118958422dup, NC_000002.12:g.118958420_118958422dup, NC_000002.12:g.118958419_118958422dup, NC_000002.12:g.118958414_118958422dup, NC_000002.12:g.118958413_118958422dup, NC_000002.11:g.119715995_119715998del, NC_000002.11:g.119715996_119715998del, NC_000002.11:g.119715997_119715998del, NC_000002.11:g.119715998del, NC_000002.11:g.119715998dup, NC_000002.11:g.119715997_119715998dup, NC_000002.11:g.119715996_119715998dup, NC_000002.11:g.119715995_119715998dup, NC_000002.11:g.119715990_119715998dup, NC_000002.11:g.119715989_119715998dup
7.
rs1491220186 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA,GAGAGA
[Show Flanks]
- Chromosome:
- 2:118986609
(GRCh38)
2:119744185
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118986607:AGA:A,NC_000002.12:118986607:AGA:AGAGA,NC_000002.12:118986607:AGA:AGAGAGA
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGA=0./0
(
ALFA)
-=0.0002/3
(GnomAD)
- HGVS:
8.
rs1491205770 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAA
[Show Flanks]
- Chromosome:
- 2:118986608
(GRCh38)
2:119744185
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118986608:GAA:GAAGGAA
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGGAA=0./0
(
ALFA)
GAAG=0.00005/1
(GnomAD)
GAAG=0.00065/12
(TOMMO)
- HGVS:
9.
rs1491195503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:118960967
(GRCh38)
2:119718543
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118960964:CACA:CA
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACA=0.0414/185
(
ALFA)
-=0.0415/186
(Estonian)
- HGVS:
11.
rs1491034414 has merged into rs35141497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 2:118964901
(GRCh38)
2:119722477
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.497/2489
(1000Genomes)
- HGVS:
NC_000002.12:g.118964901_118964903del, NC_000002.12:g.118964902_118964903del, NC_000002.12:g.118964903del, NC_000002.12:g.118964903dup, NC_000002.12:g.118964902_118964903dup, NC_000002.12:g.118964901_118964903dup, NC_000002.12:g.118964900_118964903dup, NC_000002.11:g.119722477_119722479del, NC_000002.11:g.119722478_119722479del, NC_000002.11:g.119722479del, NC_000002.11:g.119722479dup, NC_000002.11:g.119722478_119722479dup, NC_000002.11:g.119722477_119722479dup, NC_000002.11:g.119722476_119722479dup
12.
rs1491009742 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:118945424
(GRCh38)
2:119703000
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118945422:TCT:T
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00692/113
(
ALFA)
-=0.00238/40
(TOMMO)
- HGVS:
13.
rs1491005116 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:118945703
(GRCh38)
2:119703279
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118945702:TA:
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.003803/17
(
ALFA)
-=0.000546/1
(Korea1K)
-=0.001718/11
(1000Genomes)
-=0.002632/369
(GnomAD)
-=0.003795/17
(Estonian)
- HGVS:
14.
rs1491003500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:118983122
(GRCh38)
2:119740698
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118983121:T:C
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490973727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:118985682
(GRCh38)
2:119743258
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118985681:G:A
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000319/5
(TOMMO)
- HGVS:
16.
rs1490952956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:118981030
(GRCh38)
2:119738606
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118981029:T:A
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490919374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:118950244
(GRCh38)
2:119707820
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118950243:C:T
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490862557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:118949630
(GRCh38)
2:119707206
(GRCh37)
- Canonical SPDI:
- NC_000002.12:118949629:T:C
- Gene:
- MARCO (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: