Links from Gene
Items: 1 to 20 of 1000
3.
rs1491096853 has merged into rs57437959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:49519840
(GRCh38)
19:50023097
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49519826:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.49519840_49519848del, NC_000019.10:g.49519844_49519848del, NC_000019.10:g.49519845_49519848del, NC_000019.10:g.49519846_49519848del, NC_000019.10:g.49519847_49519848del, NC_000019.10:g.49519848del, NC_000019.10:g.49519848dup, NC_000019.10:g.49519847_49519848dup, NC_000019.10:g.49519846_49519848dup, NC_000019.10:g.49519845_49519848dup, NC_000019.10:g.49519844_49519848dup, NC_000019.10:g.49519843_49519848dup, NC_000019.10:g.49519842_49519848dup, NC_000019.10:g.49519841_49519848dup, NC_000019.10:g.49519840_49519848dup, NC_000019.10:g.49519836_49519848dup, NC_000019.10:g.49519848_49519849insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50023097_50023105del, NC_000019.9:g.50023101_50023105del, NC_000019.9:g.50023102_50023105del, NC_000019.9:g.50023103_50023105del, NC_000019.9:g.50023104_50023105del, NC_000019.9:g.50023105del, NC_000019.9:g.50023105dup, NC_000019.9:g.50023104_50023105dup, NC_000019.9:g.50023103_50023105dup, NC_000019.9:g.50023102_50023105dup, NC_000019.9:g.50023101_50023105dup, NC_000019.9:g.50023100_50023105dup, NC_000019.9:g.50023099_50023105dup, NC_000019.9:g.50023098_50023105dup, NC_000019.9:g.50023097_50023105dup, NC_000019.9:g.50023093_50023105dup, NC_000019.9:g.50023105_50023106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491033503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 19:49519488
(GRCh38)
19:50022745
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49519487:CCCCC:CCCC,NC_000019.10:49519487:CCCCC:CCCCCC
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490955370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:49514116
(GRCh38)
19:50017373
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49514115:A:G
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.49514116A>G, NC_000019.9:g.50017373A>G, NM_004107.5:c.308A>G, NM_004107.4:c.308A>G, NM_001136019.3:c.308A>G, NM_001136019.2:c.308A>G, XM_047438411.1:c.-113A>G, XM_047438409.1:c.308A>G, XM_047438408.1:c.308A>G, NM_001411064.1:c.308A>G, XM_047438410.1:c.308A>G, XM_047438412.1:c.308A>G, NP_004098.1:p.Lys103Arg, NP_001129491.1:p.Lys103Arg, XP_047294365.1:p.Lys103Arg, XP_047294364.1:p.Lys103Arg, XP_047294366.1:p.Lys103Arg, XP_047294368.1:p.Lys103Arg
7.
rs1490836259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49520939
(GRCh38)
19:50024196
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49520938:C:T
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490770195 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 19:49520119
(GRCh38)
19:50023376
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49520118:CC:C
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490571310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49514229
(GRCh38)
19:50017486
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49514228:G:A
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.49514229G>A, NC_000019.9:g.50017486G>A, NM_004107.5:c.344G>A, NM_004107.4:c.344G>A, NM_001136019.3:c.344G>A, NM_001136019.2:c.344G>A, XM_047438411.1:c.-77G>A, XM_047438408.1:c.344G>A, XM_047438410.1:c.344G>A, XM_047438412.1:c.344G>A, NP_004098.1:p.Gly115Asp, NP_001129491.1:p.Gly115Asp, XP_047294364.1:p.Gly115Asp, XP_047294366.1:p.Gly115Asp, XP_047294368.1:p.Gly115Asp
11.
rs1490463260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49523057
(GRCh38)
19:50026314
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49523056:G:A
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(Korea1K)
A=0.00068/2
(KOREAN)
A=0.00081/14
(TOMMO)
- HGVS:
12.
rs1489813444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:49526914
(GRCh38)
19:50030171
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49526913:C:G,NC_000019.10:49526913:C:T
- Gene:
- FCGRT (Varview), RCN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489729875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:49523649
(GRCh38)
19:50026906
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49523648:A:G
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489714435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:49514653
(GRCh38)
19:50017910
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49514652:G:A,NC_000019.10:49514652:G:C
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000071/2
(TOMMO)
C=0.000685/2
(KOREAN)
- HGVS:
15.
rs1489544704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:49512945
(GRCh38)
19:50016202
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49512944:G:T
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
17.
rs1489188335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:49511604
(GRCh38)
19:50014861
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49511603:G:A,NC_000019.10:49511603:G:C
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
19.
rs1488751082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:49512904
(GRCh38)
19:50016161
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49512903:T:G
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00004/2
(GnomAD)
- HGVS:
20.
rs1488747696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49524318
(GRCh38)
19:50027575
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49524317:C:T
- Gene:
- FCGRT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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: