Links from Gene
Items: 1 to 20 of 6292
2.
rs1491542762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA,AAA,AAAA,AAAAA,TA
[Show Flanks]
- Chromosome:
- 1:179940951
(GRCh38)
1:179910087
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179940951:A:AA,NC_000001.11:179940951:A:AAA,NC_000001.11:179940951:A:AAAA,NC_000001.11:179940951:A:AAAAA,NC_000001.11:179940951:A:AAAAAA,NC_000001.11:179940951:A:ATA
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.00037/6
(TOMMO)
A=0.00275/5
(Korea1K)
- HGVS:
NC_000001.11:g.179940952dup, NC_000001.11:g.179940952_179940953insAA, NC_000001.11:g.179940952_179940953insAAA, NC_000001.11:g.179940952_179940953insAAAA, NC_000001.11:g.179940952_179940953insAAAAA, NC_000001.11:g.179940952_179940953insTA, NC_000001.10:g.179910087dup, NC_000001.10:g.179910087_179910088insAA, NC_000001.10:g.179910087_179910088insAAA, NC_000001.10:g.179910087_179910088insAAAA, NC_000001.10:g.179910087_179910088insAAAAA, NC_000001.10:g.179910087_179910088insTA
4.
rs1491471922 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:179933993
(GRCh38)
1:179903129
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179933993::G
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1491420194 has merged into rs71118423 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:179932498
(GRCh38)
1:179901633
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.179932498_179932505del, NC_000001.11:g.179932500_179932505del, NC_000001.11:g.179932501_179932505del, NC_000001.11:g.179932503_179932505del, NC_000001.11:g.179932504_179932505del, NC_000001.11:g.179932505del, NC_000001.11:g.179932505dup, NC_000001.11:g.179932504_179932505dup, NC_000001.11:g.179932503_179932505dup, NC_000001.11:g.179932502_179932505dup, NC_000001.11:g.179932501_179932505dup, NC_000001.11:g.179932499_179932505dup, NC_000001.11:g.179932498_179932505dup, NC_000001.11:g.179932497_179932505dup, NC_000001.11:g.179932496_179932505dup, NC_000001.11:g.179932495_179932505dup, NC_000001.11:g.179932494_179932505dup, NC_000001.11:g.179932493_179932505dup, NC_000001.10:g.179901633_179901640del, NC_000001.10:g.179901635_179901640del, NC_000001.10:g.179901636_179901640del, NC_000001.10:g.179901638_179901640del, NC_000001.10:g.179901639_179901640del, NC_000001.10:g.179901640del, NC_000001.10:g.179901640dup, NC_000001.10:g.179901639_179901640dup, NC_000001.10:g.179901638_179901640dup, NC_000001.10:g.179901637_179901640dup, NC_000001.10:g.179901636_179901640dup, NC_000001.10:g.179901634_179901640dup, NC_000001.10:g.179901633_179901640dup, NC_000001.10:g.179901632_179901640dup, NC_000001.10:g.179901631_179901640dup, NC_000001.10:g.179901630_179901640dup, NC_000001.10:g.179901629_179901640dup, NC_000001.10:g.179901628_179901640dup
6.
rs1491192625 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA
[Show Flanks]
- Chromosome:
- 1:179940955
(GRCh38)
1:179910090
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179940950:CACACACA:CACA,NC_000001.11:179940950:CACACACA:CACACA
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACA=0./0
(
ALFA)
-=0.00003/1
(GnomAD)
- HGVS:
7.
rs1491157142 has merged into rs554471580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:179929960
(GRCh38)
1:179899095
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.179929960_179929972del, NC_000001.11:g.179929961_179929972del, NC_000001.11:g.179929962_179929972del, NC_000001.11:g.179929963_179929972del, NC_000001.11:g.179929964_179929972del, NC_000001.11:g.179929965_179929972del, NC_000001.11:g.179929966_179929972del, NC_000001.11:g.179929967_179929972del, NC_000001.11:g.179929969_179929972del, NC_000001.11:g.179929970_179929972del, NC_000001.11:g.179929971_179929972del, NC_000001.11:g.179929972del, NC_000001.11:g.179929972dup, NC_000001.11:g.179929971_179929972dup, NC_000001.11:g.179929970_179929972dup, NC_000001.11:g.179929968_179929972dup, NC_000001.11:g.179929960_179929972dup, NC_000001.10:g.179899095_179899107del, NC_000001.10:g.179899096_179899107del, NC_000001.10:g.179899097_179899107del, NC_000001.10:g.179899098_179899107del, NC_000001.10:g.179899099_179899107del, NC_000001.10:g.179899100_179899107del, NC_000001.10:g.179899101_179899107del, NC_000001.10:g.179899102_179899107del, NC_000001.10:g.179899104_179899107del, NC_000001.10:g.179899105_179899107del, NC_000001.10:g.179899106_179899107del, NC_000001.10:g.179899107del, NC_000001.10:g.179899107dup, NC_000001.10:g.179899106_179899107dup, NC_000001.10:g.179899105_179899107dup, NC_000001.10:g.179899103_179899107dup, NC_000001.10:g.179899095_179899107dup
8.
rs1491023821 has merged into rs554471580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:179929960
(GRCh38)
1:179899095
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.179929960_179929972del, NC_000001.11:g.179929961_179929972del, NC_000001.11:g.179929962_179929972del, NC_000001.11:g.179929963_179929972del, NC_000001.11:g.179929964_179929972del, NC_000001.11:g.179929965_179929972del, NC_000001.11:g.179929966_179929972del, NC_000001.11:g.179929967_179929972del, NC_000001.11:g.179929969_179929972del, NC_000001.11:g.179929970_179929972del, NC_000001.11:g.179929971_179929972del, NC_000001.11:g.179929972del, NC_000001.11:g.179929972dup, NC_000001.11:g.179929971_179929972dup, NC_000001.11:g.179929970_179929972dup, NC_000001.11:g.179929968_179929972dup, NC_000001.11:g.179929960_179929972dup, NC_000001.10:g.179899095_179899107del, NC_000001.10:g.179899096_179899107del, NC_000001.10:g.179899097_179899107del, NC_000001.10:g.179899098_179899107del, NC_000001.10:g.179899099_179899107del, NC_000001.10:g.179899100_179899107del, NC_000001.10:g.179899101_179899107del, NC_000001.10:g.179899102_179899107del, NC_000001.10:g.179899104_179899107del, NC_000001.10:g.179899105_179899107del, NC_000001.10:g.179899106_179899107del, NC_000001.10:g.179899107del, NC_000001.10:g.179899107dup, NC_000001.10:g.179899106_179899107dup, NC_000001.10:g.179899105_179899107dup, NC_000001.10:g.179899103_179899107dup, NC_000001.10:g.179899095_179899107dup
9.
rs1490763983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:179942458
(GRCh38)
1:179911593
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179942457:C:A
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490711785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:179941506
(GRCh38)
1:179910641
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179941505:A:G
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490661812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:179949653
(GRCh38)
1:179918789
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179949653:AAAAAA:AAAAAAA
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490479042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACCACACC>-
[Show Flanks]
- Chromosome:
- 1:179944578
(GRCh38)
1:179913713
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179944573:CACCACCACACC:CACC
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490409454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:179932689
(GRCh38)
1:179901824
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179932688:G:T
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490386012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:179950716
(GRCh38)
1:179919851
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179950715:G:A
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490269158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:179942914
(GRCh38)
1:179912049
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179942913:T:A
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
- HGVS:
18.
rs1490153964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:179925890
(GRCh38)
1:179895025
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179925889:G:A
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490138939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:179946402
(GRCh38)
1:179915537
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179946401:C:T
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
20.
rs1489924533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:179944565
(GRCh38)
1:179913700
(GRCh37)
- Canonical SPDI:
- NC_000001.11:179944564:A:G
- Gene:
- LOC101928933 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: