Links from Nucleotide
Items: 1 to 20 of 138
1.
rs1481958404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:36687433
(GRCh38)
19:37178335
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687432:A:G
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
NC_000019.10:g.36687433A>G, NC_000019.9:g.37178335A>G, NM_001387762.1:c.-369A>G, NM_001387761.1:c.-369A>G, XM_047438320.1:c.-499A>G, XM_047438329.1:c.-499A>G, XM_047438330.1:c.-369A>G, XM_047438331.1:c.-365A>G, XM_047438332.1:c.-499A>G, XM_047438334.1:c.-493A>G, XM_047438333.1:c.-369A>G, NR_110707.1:n.17T>C, NR_110708.1:n.17T>C
2.
rs1479051561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:36686011
(GRCh38)
19:37176913
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36686010:G:A
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_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:
4.
rs1475733731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:36687311
(GRCh38)
19:37178213
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687310:C:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000019.10:g.36687311C>T, NC_000019.9:g.37178213C>T, NM_001387762.1:c.-491C>T, NM_001387761.1:c.-491C>T, XM_047438320.1:c.-621C>T, XM_047438329.1:c.-621C>T, XM_047438330.1:c.-491C>T, XM_047438331.1:c.-487C>T, XM_047438332.1:c.-621C>T, XM_047438334.1:c.-615C>T, XM_047438333.1:c.-491C>T, NR_110707.1:n.139G>A, NR_110708.1:n.139G>A
5.
rs1467681081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:36687437
(GRCh38)
19:37178339
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687436:G:A,NC_000019.10:36687436:G:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
NC_000019.10:g.36687437G>A, NC_000019.10:g.36687437G>T, NC_000019.9:g.37178339G>A, NC_000019.9:g.37178339G>T, NM_001387762.1:c.-365G>A, NM_001387762.1:c.-365G>T, NM_001387761.1:c.-365G>A, NM_001387761.1:c.-365G>T, XM_047438320.1:c.-495G>A, XM_047438320.1:c.-495G>T, XM_047438329.1:c.-495G>A, XM_047438329.1:c.-495G>T, XM_047438330.1:c.-365G>A, XM_047438330.1:c.-365G>T, XM_047438331.1:c.-361G>A, XM_047438331.1:c.-361G>T, XM_047438332.1:c.-495G>A, XM_047438332.1:c.-495G>T, XM_047438334.1:c.-489G>A, XM_047438334.1:c.-489G>T, XM_047438333.1:c.-365G>A, XM_047438333.1:c.-365G>T, NR_110707.1:n.13C>T, NR_110707.1:n.13C>A, NR_110708.1:n.13C>T, NR_110708.1:n.13C>A
6.
rs1462286011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:36687358
(GRCh38)
19:37178260
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687357:C:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.36687358C>T, NC_000019.9:g.37178260C>T, NM_001387762.1:c.-444C>T, NM_001387761.1:c.-444C>T, XM_047438320.1:c.-574C>T, XM_047438329.1:c.-574C>T, XM_047438330.1:c.-444C>T, XM_047438331.1:c.-440C>T, XM_047438332.1:c.-574C>T, XM_047438334.1:c.-568C>T, XM_047438333.1:c.-444C>T, NR_110707.1:n.92G>A, NR_110708.1:n.92G>A
7.
rs1460711134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-
[Show Flanks]
- Chromosome:
- 19:36687321
(GRCh38)
19:37178223
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687316:ACACACAC:ACAC
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
ACACACAC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.36687317AC[2], NC_000019.9:g.37178219AC[2], NM_001387762.1:c.-485AC[2], NM_001387761.1:c.-485AC[2], XM_047438320.1:c.-615AC[2], XM_047438329.1:c.-615AC[2], XM_047438330.1:c.-485AC[2], XM_047438331.1:c.-481AC[2], XM_047438332.1:c.-615AC[2], XM_047438334.1:c.-609AC[2], XM_047438333.1:c.-485AC[2], NR_110707.1:n.126GT[2], NR_110708.1:n.126GT[2]
8.
rs1453012315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:36685464
(GRCh38)
19:37176366
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36685463:G:A
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1452908092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:36686696
(GRCh38)
19:37177598
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36686695:G:C
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1452657144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:36685865
(GRCh38)
19:37176767
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36685864:A:C
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
11.
rs1440233274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:36687366
(GRCh38)
19:37178268
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687365:C:G
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
NC_000019.10:g.36687366C>G, NC_000019.9:g.37178268C>G, NM_001387762.1:c.-436C>G, NM_001387761.1:c.-436C>G, XM_047438320.1:c.-566C>G, XM_047438329.1:c.-566C>G, XM_047438330.1:c.-436C>G, XM_047438331.1:c.-432C>G, XM_047438332.1:c.-566C>G, XM_047438334.1:c.-560C>G, XM_047438333.1:c.-436C>G, NR_110707.1:n.84G>C, NR_110708.1:n.84G>C
12.
rs1433273861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:36685472
(GRCh38)
19:37176374
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36685471:G:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1428183425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:36686701
(GRCh38)
19:37177603
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36686700:G:C
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
14.
rs1407880232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:36686004
(GRCh38)
19:37176906
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36686003:A:G
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1406866114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:36687272
(GRCh38)
19:37178174
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687271:C:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_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:
NC_000019.10:g.36687272C>T, NC_000019.9:g.37178174C>T, NM_001387762.1:c.-530C>T, NM_001387761.1:c.-530C>T, XM_047438320.1:c.-660C>T, XM_047438329.1:c.-660C>T, XM_047438330.1:c.-530C>T, XM_047438331.1:c.-526C>T, XM_047438332.1:c.-660C>T, XM_047438334.1:c.-654C>T, XM_047438333.1:c.-530C>T, NR_110707.1:n.178G>A, NR_110708.1:n.178G>A
16.
rs1405533240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:36685920
(GRCh38)
19:37176822
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36685919:C:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,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:
17.
rs1400892864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:36686753
(GRCh38)
19:37177655
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36686752:C:G,NC_000019.10:36686752:C:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.36686753C>G, NC_000019.10:g.36686753C>T, NC_000019.9:g.37177655C>G, NC_000019.9:g.37177655C>T, NM_001387762.1:c.-1049C>G, NM_001387762.1:c.-1049C>T, NM_001387761.1:c.-1049C>G, NM_001387761.1:c.-1049C>T, XM_047438320.1:c.-1179C>G, XM_047438320.1:c.-1179C>T, XM_047438329.1:c.-1179C>G, XM_047438329.1:c.-1179C>T, XM_047438330.1:c.-1049C>G, XM_047438330.1:c.-1049C>T, XM_047438331.1:c.-1045C>G, XM_047438331.1:c.-1045C>T, XM_047438332.1:c.-1179C>G, XM_047438332.1:c.-1179C>T, XM_047438334.1:c.-1173C>G, XM_047438334.1:c.-1173C>T, XM_047438333.1:c.-1049C>G, XM_047438333.1:c.-1049C>T, NR_110707.1:n.236G>C, NR_110707.1:n.236G>A, NR_110708.1:n.236G>C, NR_110708.1:n.236G>A
18.
rs1395273747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:36686690
(GRCh38)
19:37177592
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36686689:C:A,NC_000019.10:36686689:C:T
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
19.
rs1392437093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:36685916
(GRCh38)
19:37176818
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36685915:G:A
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1391593310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:36687365
(GRCh38)
19:37178267
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36687364:C:A
- Gene:
- ZNF567 (Varview), ZNF567-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.36687365C>A, NC_000019.9:g.37178267C>A, NM_001387762.1:c.-437C>A, NM_001387761.1:c.-437C>A, XM_047438320.1:c.-567C>A, XM_047438329.1:c.-567C>A, XM_047438330.1:c.-437C>A, XM_047438331.1:c.-433C>A, XM_047438332.1:c.-567C>A, XM_047438334.1:c.-561C>A, XM_047438333.1:c.-437C>A, NR_110707.1:n.85G>T, NR_110708.1:n.85G>T