Links from Nucleotide
Items: 1 to 20 of 146
1.
rs1491267629 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:9449754
(GRCh38)
16:9543612
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449754::G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000099/3
(GnomAD)
- HGVS:
2.
rs1491172186 has merged into rs34874780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 16:9449762
(GRCh38)
16:9543619
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.437773/802
(Korea1K)
T=0.442398/1705
(ALSPAC)
T=0.442826/1642
(TWINSUK)
T=0.445487/2231
(1000Genomes)
T=0.45/18
(GENOME_DK)
T=0.461419/122133
(TOPMED)
T=0.481667/289
(NorthernSweden)
T=0.489065/8197
(TOMMO)
- HGVS:
NC_000016.10:g.9449762_9449764del, NC_000016.10:g.9449763_9449764del, NC_000016.10:g.9449764del, NC_000016.10:g.9449764dup, NC_000016.10:g.9449763_9449764dup, NC_000016.9:g.9543619_9543621del, NC_000016.9:g.9543620_9543621del, NC_000016.9:g.9543621del, NC_000016.9:g.9543621dup, NC_000016.9:g.9543620_9543621dup, NR_126349.1:n.163_165del, NR_126349.1:n.164_165del, NR_126349.1:n.165del, NR_126349.1:n.165dup, NR_126349.1:n.164_165dup
3.
rs1490634957 has merged into rs34874780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 16:9449762
(GRCh38)
16:9543619
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:9449753:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.437773/802
(Korea1K)
T=0.442398/1705
(ALSPAC)
T=0.442826/1642
(TWINSUK)
T=0.445487/2231
(1000Genomes)
T=0.45/18
(GENOME_DK)
T=0.461419/122133
(TOPMED)
T=0.481667/289
(NorthernSweden)
T=0.489065/8197
(TOMMO)
- HGVS:
NC_000016.10:g.9449762_9449764del, NC_000016.10:g.9449763_9449764del, NC_000016.10:g.9449764del, NC_000016.10:g.9449764dup, NC_000016.10:g.9449763_9449764dup, NC_000016.9:g.9543619_9543621del, NC_000016.9:g.9543620_9543621del, NC_000016.9:g.9543621del, NC_000016.9:g.9543621dup, NC_000016.9:g.9543620_9543621dup, NR_126349.1:n.163_165del, NR_126349.1:n.164_165del, NR_126349.1:n.165del, NR_126349.1:n.165dup, NR_126349.1:n.164_165dup
4.
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:
5.
rs1485256865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9448028
(GRCh38)
16:9541885
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9448027:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
6.
rs1480874822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:9449794
(GRCh38)
16:9543651
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449793:G:C
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1470538747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:9446217
(GRCh38)
16:9540074
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446216:C:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1469372573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:9455456
(GRCh38)
16:9549313
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9455455:C:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_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.
rs1457017199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 16:9446058
(GRCh38)
16:9539915
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446057:A:G,NC_000016.10:9446057:A:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
T=0.000035/1
(TOMMO)
G=0.000042/11
(TOPMED)
- HGVS:
10.
rs1440767175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:9446229
(GRCh38)
16:9540086
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446228:C:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1437782487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9449815
(GRCh38)
16:9543672
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9449814:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
12.
rs1434537115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:9447998
(GRCh38)
16:9541855
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9447997:G:C
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1419222635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:9455433
(GRCh38)
16:9549290
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9455432:T:C
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1418720752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9455480
(GRCh38)
16:9549337
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9455479:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1417855936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:9448007
(GRCh38)
16:9541864
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9448006:C:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000035/1
(TOMMO)
G=0.000342/1
(KOREAN)
- HGVS:
17.
rs1413323439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 16:9447937
(GRCh38)
16:9541794
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9447936:A:C,NC_000016.10:9447936:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1411135095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:9446189
(GRCh38)
16:9540046
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9446188:A:G
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1410607468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:9447984
(GRCh38)
16:9541841
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9447982:ACA:A
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1405088054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:9448011
(GRCh38)
16:9541868
(GRCh37)
- Canonical SPDI:
- NC_000016.10:9448010:C:T
- Gene:
- LOC101927026 (Varview), LINC01195 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_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: