Links from Nucleotide
Items: 1 to 20 of 442
1.
rs1489014527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:56494855
(GRCh38)
19:57006224
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494854:T:C
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
2.
rs1487805143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:56478137
(GRCh38)
19:56989506
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56478136:T:C
- Gene:
- ZNF667 (Varview), ZNF667-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
3.
rs1487326974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:56494343
(GRCh38)
19:57005712
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494341:TGT:T
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1486059907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:56495313
(GRCh38)
19:57006683
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56495313:AA:AAA
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
5.
rs1484352885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56495005
(GRCh38)
19:57006374
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56495004:G:A
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1484218153 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AATGCCTCAAGATTT>-
[Show Flanks]
- Chromosome:
- 19:56495137
(GRCh38)
19:57006506
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56495136:AATGCCTCAAGATTT:
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD_exomes)
- HGVS:
7.
rs1484205316 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 19:56478120
(GRCh38)
19:56989489
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56478119:CC:C
- Gene:
- ZNF667 (Varview), ZNF667-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1483405210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56494577
(GRCh38)
19:57005946
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494576:C:T
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
9.
rs1483369832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:56494507
(GRCh38)
19:57005876
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494506:T:C
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1476927721 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CAACACGTGTTGTGTTCAACATGTGTTC
[Show Flanks]
- Chromosome:
- 19:56494583
(GRCh38)
19:57005953
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494583::CAACACGTGTTGTGTTCAACATGTGTTC
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAACACGTGTTGTGTTCAACATGTGTTC=0./0
(
ALFA)
CAACACGTGTTGTGTTCAACATGTGTTC=0.000021/3
(GnomAD)
- HGVS:
11.
rs1475355939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:56477887
(GRCh38)
19:56989256
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56477886:G:A,NC_000019.10:56477886:G:T
- Gene:
- ZNF667 (Varview), ZNF667-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
- HGVS:
12.
rs1472068872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56495224
(GRCh38)
19:57006593
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56495223:C:T
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
13.
rs1468243422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:56494836
(GRCh38)
19:57006205
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494835:A:G
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
14.
rs1468058870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:56478105
(GRCh38)
19:56989474
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56478104:G:C
- Gene:
- ZNF667 (Varview), ZNF667-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1464724307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56477889
(GRCh38)
19:56989258
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56477888:G:A
- Gene:
- ZNF667 (Varview), ZNF667-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1464084118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:56494378
(GRCh38)
19:57005747
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494377:C:A
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/4
(GnomAD_exomes)
A=0.000743/12
(TOMMO)
A=0.001711/5
(KOREAN)
- HGVS:
18.
rs1464053976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:56494536
(GRCh38)
19:57005905
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494535:T:C
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
19.
rs1463601809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56494718
(GRCh38)
19:57006087
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56494717:C:T
- Gene:
- ZNF667-AS1 (Varview), LOC124904776 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1463549879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:56478175
(GRCh38)
19:56989544
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56478174:G:C
- Gene:
- ZNF667 (Varview), ZNF667-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS: