Links from Gene
Items: 1 to 20 of 2669
1.
rs1491374068 has merged into rs58528348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:68835723
(GRCh38)
2:69062855
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68835712:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01890 (Varview), LINC01888 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0.2933/1469
(1000Genomes)
- HGVS:
NC_000002.12:g.68835723_68835737del, NC_000002.12:g.68835724_68835737del, NC_000002.12:g.68835725_68835737del, NC_000002.12:g.68835726_68835737del, NC_000002.12:g.68835727_68835737del, NC_000002.12:g.68835728_68835737del, NC_000002.12:g.68835729_68835737del, NC_000002.12:g.68835730_68835737del, NC_000002.12:g.68835731_68835737del, NC_000002.12:g.68835732_68835737del, NC_000002.12:g.68835733_68835737del, NC_000002.12:g.68835734_68835737del, NC_000002.12:g.68835735_68835737del, NC_000002.12:g.68835736_68835737del, NC_000002.12:g.68835737del, NC_000002.12:g.68835737dup, NC_000002.12:g.68835736_68835737dup, NC_000002.12:g.68835735_68835737dup, NC_000002.12:g.68835734_68835737dup, NC_000002.12:g.68835733_68835737dup, NC_000002.12:g.68835732_68835737dup, NC_000002.12:g.68835731_68835737dup, NC_000002.12:g.68835729_68835737dup, NC_000002.12:g.68835728_68835737dup, NC_000002.12:g.68835727_68835737dup, NC_000002.11:g.69062855_69062869del, NC_000002.11:g.69062856_69062869del, NC_000002.11:g.69062857_69062869del, NC_000002.11:g.69062858_69062869del, NC_000002.11:g.69062859_69062869del, NC_000002.11:g.69062860_69062869del, NC_000002.11:g.69062861_69062869del, NC_000002.11:g.69062862_69062869del, NC_000002.11:g.69062863_69062869del, NC_000002.11:g.69062864_69062869del, NC_000002.11:g.69062865_69062869del, NC_000002.11:g.69062866_69062869del, NC_000002.11:g.69062867_69062869del, NC_000002.11:g.69062868_69062869del, NC_000002.11:g.69062869del, NC_000002.11:g.69062869dup, NC_000002.11:g.69062868_69062869dup, NC_000002.11:g.69062867_69062869dup, NC_000002.11:g.69062866_69062869dup, NC_000002.11:g.69062865_69062869dup, NC_000002.11:g.69062864_69062869dup, NC_000002.11:g.69062863_69062869dup, NC_000002.11:g.69062861_69062869dup, NC_000002.11:g.69062860_69062869dup, NC_000002.11:g.69062859_69062869dup
2.
rs1491191615 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:68835712
(GRCh38)
2:69062844
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68835711:CA:
- Gene:
- LINC01890 (Varview), LINC01888 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00002/1
(GnomAD)
-=0.00004/1
(TOMMO)
-=0.00397/7
(Korea1K)
- HGVS:
3.
rs1490979142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:68830480
(GRCh38)
2:69057612
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68830479:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490679166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:68831366
(GRCh38)
2:69058498
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68831365:A:C,NC_000002.12:68831365:A:G
- Gene:
- LINC01890 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.68831366A>C, NC_000002.12:g.68831366A>G, NC_000002.11:g.69058498A>C, NC_000002.11:g.69058498A>G, XR_940226.4:n.1156T>G, XR_940226.4:n.1156T>C, XR_940226.3:n.1337T>G, XR_940226.3:n.1337T>C, XR_940226.2:n.1156T>G, XR_940226.2:n.1156T>C, XR_940226.1:n.1156T>G, XR_940226.1:n.1156T>C
6.
rs1489925849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:68838862
(GRCh38)
2:69065994
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68838861:T:C
- Gene:
- LINC01890 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1489878618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:68838490
(GRCh38)
2:69065622
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68838489:G:T
- Gene:
- LINC01890 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000022/3
(GnomAD)
- HGVS:
8.
rs1489651921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68831128
(GRCh38)
2:69058260
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68831127:C:T
- Gene:
- LINC01890 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1488961215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68833212
(GRCh38)
2:69060344
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68833211:A:G
- Gene:
- LINC01890 (Varview), LINC01888 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1488704692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:68836052
(GRCh38)
2:69063184
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68836051:A:C
- Gene:
- LINC01890 (Varview), LINC01888 (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:
11.
rs1488563605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68837502
(GRCh38)
2:69064634
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68837501:C:T
- Gene:
- LINC01890 (Varview), LINC01888 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_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:
13.
rs1488342041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:68827336
(GRCh38)
2:69054468
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68827335:T:A,NC_000002.12:68827335:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1488224278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:68838886
(GRCh38)
2:69066018
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68838885:A:C
- Gene:
- LINC01890 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
15.
rs1488134605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:68827207
(GRCh38)
2:69054339
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68827206:T:C
- Gene:
- ARHGAP25 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487928804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:68838462
(GRCh38)
2:69065594
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68838461:C:A
- Gene:
- LINC01890 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
18.
rs1487915099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:68829928
(GRCh38)
2:69057060
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68829927:G:C,NC_000002.12:68829927:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1486903771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:68827358
(GRCh38)
2:69054490
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68827357:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
20.
rs1486191161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68826446
(GRCh38)
2:69053578
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68826445:C:T
- Gene:
- ARHGAP25 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000002.12:g.68826446C>T, NC_000002.11:g.69053578C>T, XM_011533207.4:c.*252C>T, XM_011533207.3:c.*252C>T, XM_011533207.2:c.*252C>T, XM_011533207.1:c.*252C>T, XM_011533210.4:c.*252C>T, XM_011533210.3:c.*252C>T, XM_011533210.2:c.*252C>T, XM_011533210.1:c.*252C>T, XM_011533209.3:c.*252C>T, XM_011533209.2:c.*252C>T, XM_011533209.1:c.*252C>T, NM_001007231.3:c.*252C>T, NM_001007231.2:c.*252C>T, NM_014882.3:c.*252C>T, NM_014882.2:c.*252C>T, NM_001166277.2:c.*252C>T, NM_001166277.1:c.*252C>T, NM_001166276.2:c.*252C>T, NM_001166276.1:c.*252C>T, XM_017005426.2:c.*252C>T, XM_017005426.1:c.*252C>T, NM_001364819.1:c.*252C>T, NM_001364820.1:c.*252C>T, NM_001364821.1:c.*252C>T