Links from Gene
Items: 1 to 20 of 3835
1.
rs1491089183 has merged into rs35764500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:60067223
(GRCh38)
11:59834696
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60067212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.60067223_60067230del, NC_000011.10:g.60067227_60067230del, NC_000011.10:g.60067228_60067230del, NC_000011.10:g.60067229_60067230del, NC_000011.10:g.60067230del, NC_000011.10:g.60067230dup, NC_000011.10:g.60067229_60067230dup, NC_000011.10:g.60067228_60067230dup, NC_000011.10:g.60067227_60067230dup, NC_000011.10:g.60067226_60067230dup, NC_000011.10:g.60067225_60067230dup, NC_000011.10:g.60067224_60067230dup, NC_000011.10:g.60067223_60067230dup, NC_000011.10:g.60067222_60067230dup, NC_000011.9:g.59834696_59834703del, NC_000011.9:g.59834700_59834703del, NC_000011.9:g.59834701_59834703del, NC_000011.9:g.59834702_59834703del, NC_000011.9:g.59834703del, NC_000011.9:g.59834703dup, NC_000011.9:g.59834702_59834703dup, NC_000011.9:g.59834701_59834703dup, NC_000011.9:g.59834700_59834703dup, NC_000011.9:g.59834699_59834703dup, NC_000011.9:g.59834698_59834703dup, NC_000011.9:g.59834697_59834703dup, NC_000011.9:g.59834696_59834703dup, NC_000011.9:g.59834695_59834703dup, NW_019805498.1:g.161104_161111del, NW_019805498.1:g.161108_161111del, NW_019805498.1:g.161109_161111del, NW_019805498.1:g.161110_161111del, NW_019805498.1:g.161111del, NW_019805498.1:g.161111dup, NW_019805498.1:g.161110_161111dup, NW_019805498.1:g.161109_161111dup, NW_019805498.1:g.161108_161111dup, NW_019805498.1:g.161107_161111dup, NW_019805498.1:g.161106_161111dup, NW_019805498.1:g.161105_161111dup, NW_019805498.1:g.161104_161111dup, NW_019805498.1:g.161103_161111dup
2.
rs1491077846 has merged into rs71456407 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:60068249
(GRCh38)
11:59835722
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60068238:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000011.10:g.60068249_60068257del, NC_000011.10:g.60068250_60068257del, NC_000011.10:g.60068251_60068257del, NC_000011.10:g.60068252_60068257del, NC_000011.10:g.60068254_60068257del, NC_000011.10:g.60068255_60068257del, NC_000011.10:g.60068256_60068257del, NC_000011.10:g.60068257del, NC_000011.10:g.60068257dup, NC_000011.10:g.60068256_60068257dup, NC_000011.10:g.60068255_60068257dup, NC_000011.10:g.60068254_60068257dup, NC_000011.10:g.60068253_60068257dup, NC_000011.10:g.60068252_60068257dup, NC_000011.10:g.60068251_60068257dup, NC_000011.10:g.60068249_60068257dup, NC_000011.9:g.59835722_59835730del, NC_000011.9:g.59835723_59835730del, NC_000011.9:g.59835724_59835730del, NC_000011.9:g.59835725_59835730del, NC_000011.9:g.59835727_59835730del, NC_000011.9:g.59835728_59835730del, NC_000011.9:g.59835729_59835730del, NC_000011.9:g.59835730del, NC_000011.9:g.59835730dup, NC_000011.9:g.59835729_59835730dup, NC_000011.9:g.59835728_59835730dup, NC_000011.9:g.59835727_59835730dup, NC_000011.9:g.59835726_59835730dup, NC_000011.9:g.59835725_59835730dup, NC_000011.9:g.59835724_59835730dup, NC_000011.9:g.59835722_59835730dup, NW_019805498.1:g.162130_162138del, NW_019805498.1:g.162131_162138del, NW_019805498.1:g.162132_162138del, NW_019805498.1:g.162133_162138del, NW_019805498.1:g.162135_162138del, NW_019805498.1:g.162136_162138del, NW_019805498.1:g.162137_162138del, NW_019805498.1:g.162138del, NW_019805498.1:g.162138dup, NW_019805498.1:g.162137_162138dup, NW_019805498.1:g.162136_162138dup, NW_019805498.1:g.162135_162138dup, NW_019805498.1:g.162134_162138dup, NW_019805498.1:g.162133_162138dup, NW_019805498.1:g.162132_162138dup, NW_019805498.1:g.162130_162138dup
4.
rs1490709586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:60061349
(GRCh38)
11:59828822
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60061348:G:C
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490683647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:60061434
(GRCh38)
11:59828907
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60061431:CTCT:CT
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490644480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:60064556
(GRCh38)
11:59832029
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60064555:T:C
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000324/6
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000071/10
(GnomAD)
C=0.001339/6
(Estonian)
- HGVS:
7.
rs1490491427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:60054741
(GRCh38)
11:59822214
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60054740:A:G
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490147175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:60063216
(GRCh38)
11:59830689
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60063215:A:G
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490122837 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:60067813
(GRCh38)
11:59835287
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60067813:G:GG
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489877381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:60059533
(GRCh38)
11:59827006
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60059532:C:T
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1489867472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:60060946
(GRCh38)
11:59828419
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60060945:A:G
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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:
12.
rs1489731244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:60067416
(GRCh38)
11:59834889
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60067415:C:T
- Gene:
- MS4A3 (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:
13.
rs1489600891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:60069998
(GRCh38)
11:59837471
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60069997:T:C
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489549689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:60063319
(GRCh38)
11:59830792
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60063318:A:G
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
15.
rs1489326842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:60058326
(GRCh38)
11:59825799
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60058325:G:A
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489230660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:60055685
(GRCh38)
11:59823158
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60055684:G:T
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489032888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:60070365
(GRCh38)
11:59837838
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60070364:T:A
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.60070365T>A, NC_000011.9:g.59837838T>A, NW_019805498.1:g.164254T>A, NM_006138.5:c.*132T>A, NM_006138.4:c.*132T>A, XM_011545363.4:c.*132T>A, XM_011545363.3:c.*132T>A, XM_011545363.2:c.*132T>A, XM_011545363.1:c.*132T>A, NM_001031809.2:c.*132T>A, NM_001031809.1:c.*132T>A, NM_001031666.2:c.*132T>A, NM_001031666.1:c.*132T>A
19.
rs1488899076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:60059985
(GRCh38)
11:59827458
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60059984:C:T
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1488796110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:60067736
(GRCh38)
11:59835209
(GRCh37)
- Canonical SPDI:
- NC_000011.10:60067735:C:G
- Gene:
- MS4A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: