Links from Gene
Items: 1 to 20 of 1735
1.
rs1491468305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:9446663
(GRCh38)
16:9540520
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446661:TAT:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0024/9
(TWINSUK)
-=0.0031/12
(ALSPAC)
- HGVS:
2.
rs1490683331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9445685
(GRCh38)
16:9539542
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9445684:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
3.
rs1490201325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:9444016
(GRCh38)
16:9537873
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9444015:G:C
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490177988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:9443117
(GRCh38)
16:9536974
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9443116:C:T
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489938777 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 16:9446651
(GRCh38)
16:9540508
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446650:A:
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00029/7
(GnomAD)
- HGVS:
6.
rs1489866538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:9444774
(GRCh38)
16:9538631
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9444773:C:T
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
7.
rs1489775865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9443875
(GRCh38)
16:9537732
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9443874:A:G
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.5/21
(SGDP_PRJ)
- HGVS:
8.
rs1489288770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:9443370
(GRCh38)
16:9537227
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9443369:C:G
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489032239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9446038
(GRCh38)
16:9539895
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446037:G:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488709063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9446418
(GRCh38)
16:9540275
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446417:G:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
A=0.00055/1
(Korea1K)
- HGVS:
11.
rs1487074735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTAT
[Show Flanks]
- Chromosome:
- 16:9446673
(GRCh38)
16:9540531
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446673:TAT:TATCTAT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TATCTAT=0./0
(
ALFA)
TATC=0.00005/7
(GnomAD)
- HGVS:
12.
rs1486752882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTA
[Show Flanks]
- Chromosome:
- 16:9446676
(GRCh38)
16:9540534
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446676:TTA:TTACTTA
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTACTTA=0.00059/7
(
ALFA)
TTAC=0.001037/144
(GnomAD)
- HGVS:
13.
rs1485411405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:9445962
(GRCh38)
16:9539819
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9445961:A:C
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
14.
rs1484123496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9444806
(GRCh38)
16:9538663
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9444805:A:G
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483918163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9442487
(GRCh38)
16:9536344
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9442486:A:G
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
16.
rs1483598890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:9441799
(GRCh38)
16:9535656
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9441798:T:C
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000043/6
(GnomAD)
- HGVS:
17.
rs1483041261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:9441981
(GRCh38)
16:9535838
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9441980:G:A
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
18.
rs1482788744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9446472
(GRCh38)
16:9540329
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446471:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000036/5
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
19.
rs1482668717 has merged into rs61641680 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTATTTATTTATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTT,ATTTATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
[Show Flanks]
- Chromosome:
- 16:9446671
(GRCh38)
16:9540528
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTATTTATTTATTTATTTATTTATTTATTT=0./0
(
ALFA)
-=0.1684/649
(ALSPAC)
- HGVS:
NC_000016.10:g.9446651ATTT[5], NC_000016.10:g.9446651ATTT[6], NC_000016.10:g.9446651ATTT[7], NC_000016.10:g.9446651ATTT[8], NC_000016.10:g.9446651ATTT[9], NC_000016.10:g.9446651ATTT[10], NC_000016.10:g.9446651ATTT[12], NC_000016.10:g.9446651ATTT[13], NC_000016.10:g.9446651ATTT[14], NC_000016.10:g.9446651ATTT[15], NC_000016.9:g.9540508ATTT[5], NC_000016.9:g.9540508ATTT[6], NC_000016.9:g.9540508ATTT[7], NC_000016.9:g.9540508ATTT[8], NC_000016.9:g.9540508ATTT[9], NC_000016.9:g.9540508ATTT[10], NC_000016.9:g.9540508ATTT[12], NC_000016.9:g.9540508ATTT[13], NC_000016.9:g.9540508ATTT[14], NC_000016.9:g.9540508ATTT[15]
20.
rs1482129993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:9444118
(GRCh38)
16:9537975
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9444117:C:T
- Gene:
- LOC101927026 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.5/1
(SGDP_PRJ)
- HGVS: