Links from Nucleotide
Items: 1 to 20 of 4649
3.
rs1491307819 has merged into rs4016043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 3:44582925
(GRCh38)
3:44624417
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- ZKSCAN7 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGT=0.15/6
(GENOME_DK)
GTGTGTGTGTGT=0.3975/1532
(ALSPAC)
- HGVS:
NC_000003.12:g.44582909TG[8], NC_000003.12:g.44582909TG[9], NC_000003.12:g.44582909TG[10], NC_000003.12:g.44582909TG[11], NC_000003.12:g.44582909TG[12], NC_000003.12:g.44582909TG[13], NC_000003.12:g.44582909TG[14], NC_000003.12:g.44582909TG[15], NC_000003.12:g.44582909TG[16], NC_000003.12:g.44582909TG[17], NC_000003.12:g.44582909TG[18], NC_000003.12:g.44582909TG[20], NC_000003.12:g.44582909TG[21], NC_000003.12:g.44582909TG[22], NC_000003.12:g.44582909TG[23], NC_000003.12:g.44582909TG[24], NC_000003.12:g.44582909TG[25], NC_000003.12:g.44582909TG[26], NC_000003.11:g.44624401TG[8], NC_000003.11:g.44624401TG[9], NC_000003.11:g.44624401TG[10], NC_000003.11:g.44624401TG[11], NC_000003.11:g.44624401TG[12], NC_000003.11:g.44624401TG[13], NC_000003.11:g.44624401TG[14], NC_000003.11:g.44624401TG[15], NC_000003.11:g.44624401TG[16], NC_000003.11:g.44624401TG[17], NC_000003.11:g.44624401TG[18], NC_000003.11:g.44624401TG[20], NC_000003.11:g.44624401TG[21], NC_000003.11:g.44624401TG[22], NC_000003.11:g.44624401TG[23], NC_000003.11:g.44624401TG[24], NC_000003.11:g.44624401TG[25], NC_000003.11:g.44624401TG[26], NG_054906.1:g.3061TG[8], NG_054906.1:g.3061TG[9], NG_054906.1:g.3061TG[10], NG_054906.1:g.3061TG[11], NG_054906.1:g.3061TG[12], NG_054906.1:g.3061TG[13], NG_054906.1:g.3061TG[14], NG_054906.1:g.3061TG[15], NG_054906.1:g.3061TG[16], NG_054906.1:g.3061TG[17], NG_054906.1:g.3061TG[18], NG_054906.1:g.3061TG[20], NG_054906.1:g.3061TG[21], NG_054906.1:g.3061TG[22], NG_054906.1:g.3061TG[23], NG_054906.1:g.3061TG[24], NG_054906.1:g.3061TG[25], NG_054906.1:g.3061TG[26], NW_009646197.1:g.108263TG[8], NW_009646197.1:g.108263TG[9], NW_009646197.1:g.108263TG[10], NW_009646197.1:g.108263TG[11], NW_009646197.1:g.108263TG[12], NW_009646197.1:g.108263TG[13], NW_009646197.1:g.108263TG[14], NW_009646197.1:g.108263TG[15], NW_009646197.1:g.108263TG[16], NW_009646197.1:g.108263TG[17], NW_009646197.1:g.108263TG[18], NW_009646197.1:g.108263TG[20], NW_009646197.1:g.108263TG[21], NW_009646197.1:g.108263TG[22], NW_009646197.1:g.108263TG[23], NW_009646197.1:g.108263TG[24], NW_009646197.1:g.108263TG[25], NW_009646197.1:g.108263TG[26]
5.
rs1490750849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44595803
(GRCh38)
3:44637295
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44595802:A:G
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490660511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44586796
(GRCh38)
3:44628288
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44586795:A:G
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490655679 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAGAAAGAAA>-
[Show Flanks]
- Chromosome:
- 3:44588061
(GRCh38)
3:44629553
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44588055:AGAAAAAAAGAAAGAAA:AGAAA
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAAA=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
8.
rs1490641404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:44594323
(GRCh38)
3:44635815
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44594322:C:G,NC_000003.12:44594322:C:T
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.44594323C>G, NC_000003.12:g.44594323C>T, NC_000003.11:g.44635815C>G, NC_000003.11:g.44635815C>T, NG_054906.1:g.14475C>G, NG_054906.1:g.14475C>T, NM_173658.4:c.130C>G, NM_173658.4:c.130C>T, NM_173658.3:c.130C>G, NM_173658.3:c.130C>T, NM_173658.2:c.130C>G, NM_173658.2:c.130C>T, NW_009646197.1:g.119677C>G, NW_009646197.1:g.119677C>T, NP_775929.2:p.Gln44Glu, NP_775929.2:p.Gln44Ter
9.
rs1490447025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44583668
(GRCh38)
3:44625160
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44583667:A:G
- Gene:
- ZKSCAN7 (Varview), ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
10.
rs1490430394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:44585741
(GRCh38)
3:44627233
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44585740:G:T
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490282451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:44582476
(GRCh38)
3:44623968
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44582475:T:C,NC_000003.12:44582475:T:G
- Gene:
- ZKSCAN7 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1490152415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:44582968
(GRCh38)
3:44624460
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44582967:C:T
- Gene:
- ZKSCAN7 (Varview), ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
13.
rs1490065335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:44584951
(GRCh38)
3:44626443
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44584950:G:T
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.44584951G>T, NC_000003.11:g.44626443G>T, NG_054906.1:g.5103G>T, NW_009646197.1:g.110305G>T, NM_173658.3:c.-346G>T, NR_147692.1:n.102G>T, NM_001351733.1:c.-256G>T, NM_001351732.1:c.-247G>T, NR_147691.1:n.102G>T, NM_001351735.1:c.-256G>T, NM_001351734.1:c.-247G>T
15.
rs1489839260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:44587596
(GRCh38)
3:44629088
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44587595:C:A
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489782452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:44592550
(GRCh38)
3:44634042
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44592549:C:T
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
17.
rs1489036921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:44590637
(GRCh38)
3:44632129
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44590636:G:C
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488711236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:44589419
(GRCh38)
3:44630911
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44589418:C:A,NC_000003.12:44589418:C:T
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
19.
rs1488258008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:44594205
(GRCh38)
3:44635697
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44594204:G:A
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1487897436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44594720
(GRCh38)
3:44636212
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44594719:A:G
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: