Links from Nucleotide
Items: 1 to 20 of 1185
1.
rs1491575287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTGTGTG
[Show Flanks]
- Chromosome:
- 17:22411938
(GRCh38)
17:21911268
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411938:GTGTGTG:GTGTGTGGGTGTGTG
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGGGTGTGTG=0./0
(
ALFA)
GTGTGTGG=0.00007/3
(GnomAD)
- HGVS:
2.
rs1491568303 has merged into rs66463211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 17:22411953
(GRCh38)
17:21911282
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:22411937:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.5/4
(KOREAN)
- HGVS:
NC_000017.11:g.22411939GT[7], NC_000017.11:g.22411939GT[8], NC_000017.11:g.22411939GT[9], NC_000017.11:g.22411939GT[10], NC_000017.11:g.22411939GT[11], NC_000017.11:g.22411939GT[13], NC_000017.11:g.22411939GT[14], NC_000017.11:g.22411939GT[15], NC_000017.11:g.22411939GT[16], NC_000017.11:g.22411939GT[17], NC_000017.11:g.22411939GT[18], NC_000017.11:g.22411939GT[19], NC_000017.11:g.22411939GT[20], NC_000017.11:g.22411939GT[21], NC_000017.11:g.22411939GT[22], NC_000017.11:g.22411939GT[23], NC_000017.11:g.22411939GT[24], NC_000017.11:g.22411939GT[25], NC_000017.11:g.22411939GT[26], NC_000017.10:g.21911268GT[7], NC_000017.10:g.21911268GT[8], NC_000017.10:g.21911268GT[9], NC_000017.10:g.21911268GT[10], NC_000017.10:g.21911268GT[11], NC_000017.10:g.21911268GT[13], NC_000017.10:g.21911268GT[14], NC_000017.10:g.21911268GT[15], NC_000017.10:g.21911268GT[16], NC_000017.10:g.21911268GT[17], NC_000017.10:g.21911268GT[18], NC_000017.10:g.21911268GT[19], NC_000017.10:g.21911268GT[20], NC_000017.10:g.21911268GT[21], NC_000017.10:g.21911268GT[22], NC_000017.10:g.21911268GT[23], NC_000017.10:g.21911268GT[24], NC_000017.10:g.21911268GT[25], NC_000017.10:g.21911268GT[26], NM_175905.2:c.277_286del, NM_175905.2:c.279_286del, NM_175905.2:c.281_286del, NM_175905.2:c.283_286del, NM_175905.2:c.285_286del, NM_175905.2:c.285_286dup, NM_175905.2:c.283_286dup, NM_175905.2:c.281_286dup, NM_175905.2:c.279_286dup, NM_175905.2:c.277_286dup, NM_175905.2:c.275_286dup, NM_175905.2:c.273_286dup, NM_175905.2:c.271_286dup, NM_175905.2:c.269_286dup, NM_175905.2:c.267_286dup, NM_175905.2:c.265_286dup, NM_175905.2:c.263_286dup, NM_175905.2:c.261_286dup, NM_175905.2:c.259_286dup, NR_027084.1:n.1996GT[7], NR_027084.1:n.1996GT[8], NR_027084.1:n.1996GT[9], NR_027084.1:n.1996GT[10], NR_027084.1:n.1996GT[11], NR_027084.1:n.1996GT[13], NR_027084.1:n.1996GT[14], NR_027084.1:n.1996GT[15], NR_027084.1:n.1996GT[16], NR_027084.1:n.1996GT[17], NR_027084.1:n.1996GT[18], NR_027084.1:n.1996GT[19], NR_027084.1:n.1996GT[20], NR_027084.1:n.1996GT[21], NR_027084.1:n.1996GT[22], NR_027084.1:n.1996GT[23], NR_027084.1:n.1996GT[24], NR_027084.1:n.1996GT[25], NR_027084.1:n.1996GT[26], NM_175905.1:c.277_286del, NM_175905.1:c.279_286del, NM_175905.1:c.281_286del, NM_175905.1:c.283_286del, NM_175905.1:c.285_286del, NM_175905.1:c.285_286dup, NM_175905.1:c.283_286dup, NM_175905.1:c.281_286dup, NM_175905.1:c.279_286dup, NM_175905.1:c.277_286dup, NM_175905.1:c.275_286dup, NM_175905.1:c.273_286dup, NM_175905.1:c.271_286dup, NM_175905.1:c.269_286dup, NM_175905.1:c.267_286dup, NM_175905.1:c.265_286dup, NM_175905.1:c.263_286dup, NM_175905.1:c.261_286dup, NM_175905.1:c.259_286dup
3.
rs1489408420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:22410939
(GRCh38)
17:21910268
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22410938:C:G,NC_000017.11:22410938:C:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1488425349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:22411205
(GRCh38)
17:21910534
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411204:A:G
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
5.
rs1488114135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:22411700
(GRCh38)
17:21911029
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411699:G:A
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
6.
rs1487534345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:22411912
(GRCh38)
17:21911241
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411911:G:A,NC_000017.11:22411911:G:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1487185515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:22411000
(GRCh38)
17:21910329
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22410999:C:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487140628 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 17:22411918
(GRCh38)
17:21911247
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411917:T:
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486507516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:22412107
(GRCh38)
17:21911436
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22412106:C:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1486495223 has merged into rs564049531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 17:22410213
(GRCh38)
17:21909542
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22410212:C:A,NC_000017.11:22410212:C:G,NC_000017.11:22410212:C:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000312/2
(1000Genomes)
T=0.000529/140
(TOPMED)
- HGVS:
11.
rs1486456484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 17:22411611
(GRCh38)
17:21910940
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411610:C:A,NC_000017.11:22411610:C:G
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485524552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:22412468
(GRCh38)
17:21911797
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22412467:C:G,NC_000017.11:22412467:C:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1484975494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:22410893
(GRCh38)
17:21910222
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22410892:T:C
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1484638156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:22412734
(GRCh38)
17:21912063
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22412733:G:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1484545212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:22412788
(GRCh38)
17:21912117
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22412787:C:G,NC_000017.11:22412787:C:T
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
17.
rs1483245445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:22413274
(GRCh38)
17:21912603
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22413273:A:G
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1483173156 has merged into rs991054853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:22410206
(GRCh38)
17:21909535
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22410205:T:C
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1483044518 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:22411371
(GRCh38)
17:21910700
(GRCh37)
- Canonical SPDI:
- NC_000017.11:22411370:CC:C
- Gene:
- FLJ36000 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: