Links from Nucleotide
Items: 1 to 20 of 1028
1.
rs1491570885 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:28187067
(GRCh38)
12:28340000
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28187066:CT:
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00004/4
(GnomAD)
- HGVS:
2.
rs1490276583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:28188269
(GRCh38)
12:28341202
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28188268:C:T
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- 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:
3.
rs1489778833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:28188852
(GRCh38)
12:28341785
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28188851:T:A
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,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.
rs1488815555 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCTCCACCTCCCAG>-
[Show Flanks]
- Chromosome:
- 12:28187144
(GRCh38)
12:28340077
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28187140:CAGCCTCCACCTCCCAG:CAG
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAG=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
5.
rs1487849530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:28190689
(GRCh38)
12:28343622
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28190688:G:A
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1487421408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:28190604
(GRCh38)
12:28343537
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28190603:G:A
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_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:
NC_000012.12:g.28190604G>A, NC_000012.11:g.28343537G>A, NM_018318.5:c.-52G>A, NM_018318.4:c.-52G>A, NM_001352086.2:c.-409G>A, NM_001352086.1:c.-409G>A, NM_001352079.2:c.-248G>A, NM_001352079.1:c.-248G>A, XM_024449036.2:c.-261G>A, XM_024449036.1:c.-261G>A, XM_024449033.2:c.-201G>A, XM_024449033.1:c.-201G>A, XM_017019569.2:c.-179G>A, XM_017019569.1:c.-179G>A, XM_024449037.2:c.-201G>A, XM_024449037.1:c.-201G>A, XM_017019572.2:c.-179G>A, XM_017019572.1:c.-179G>A, NM_001352078.2:c.-134G>A, NM_001352078.1:c.-134G>A, NM_001352080.2:c.-124G>A, NM_001352080.1:c.-124G>A, NM_001352081.2:c.-119G>A, NM_001352081.1:c.-119G>A, NM_001352082.2:c.-119G>A, NM_001352082.1:c.-119G>A, NM_001352083.2:c.-52G>A, NM_001352083.1:c.-52G>A, NM_001352084.2:c.-52G>A, NM_001352084.1:c.-52G>A, NM_001330367.2:c.-52G>A, NM_001330367.1:c.-52G>A, NM_001352087.2:c.-415G>A, NM_001352087.1:c.-415G>A, XM_011520735.2:c.-388G>A, XM_011520735.1:c.-388G>A, NR_148936.1:n.135C>T, XM_047429089.1:c.-677G>A, XM_047429083.1:c.-384G>A, XM_047429090.1:c.-384G>A, XM_047429082.1:c.-338G>A, XM_047429081.1:c.-333G>A, NM_001387000.1:c.-261G>A, XM_047429085.1:c.-256G>A, XM_047429086.1:c.-251G>A, XM_047429084.1:c.-191G>A, XM_047429094.1:c.-261G>A, XM_047429092.1:c.-134G>A, XM_047429093.1:c.-119G>A, XM_047429096.1:c.-415G>A
7.
rs1486421121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:28186494
(GRCh38)
12:28339427
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28186493:G:A
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
8.
rs1486246823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:28186004
(GRCh38)
12:28338937
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28186003:G:A
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000546/1
(Korea1K)
- HGVS:
9.
rs1486137647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:28189914
(GRCh38)
12:28342847
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28189913:T:C
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1485843599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:28186858
(GRCh38)
12:28339791
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28186857:A:G
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1485828351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:28190435
(GRCh38)
12:28343368
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28190434:C:A
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
NC_000012.12:g.28190435C>A, NC_000012.11:g.28343368C>A, NM_018318.4:c.-221C>A, NR_148936.1:n.304G>T, NM_001352086.1:c.-578C>A, NM_001352079.1:c.-417C>A, NM_001352078.1:c.-303C>A, NM_001352080.1:c.-293C>A, NM_001352081.1:c.-288C>A, NM_001352082.1:c.-288C>A, NM_001352083.1:c.-221C>A, NM_001352084.1:c.-221C>A, NM_001330367.1:c.-221C>A, NM_001352087.1:c.-584C>A
12.
rs1485483980 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:28188698
(GRCh38)
12:28341631
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28188697:G:A,NC_000012.12:28188697:G:C
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
13.
rs1485290320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:28188062
(GRCh38)
12:28340995
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28188061:C:A
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- 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:
14.
rs1484411138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:28186371
(GRCh38)
12:28339304
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28186370:T:A,NC_000012.12:28186370:T:C
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00031/2
(1000Genomes)
C=0.00057/9
(TOMMO)
- HGVS:
15.
rs1484187344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:28190541
(GRCh38)
12:28343474
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28190540:C:G
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_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:
NC_000012.12:g.28190541C>G, NC_000012.11:g.28343474C>G, NM_018318.5:c.-115C>G, NM_018318.4:c.-115C>G, NM_001352086.2:c.-472C>G, NM_001352086.1:c.-472C>G, NM_001352079.2:c.-311C>G, NM_001352079.1:c.-311C>G, XM_024449036.2:c.-324C>G, XM_024449036.1:c.-324C>G, XM_024449033.2:c.-264C>G, XM_017019569.2:c.-242C>G, XM_017019569.1:c.-242C>G, XM_024449037.2:c.-264C>G, XM_017019572.2:c.-242C>G, NM_001352078.2:c.-197C>G, NM_001352078.1:c.-197C>G, NM_001352080.2:c.-187C>G, NM_001352080.1:c.-187C>G, NM_001352081.2:c.-182C>G, NM_001352081.1:c.-182C>G, NM_001352082.2:c.-182C>G, NM_001352082.1:c.-182C>G, NM_001352083.2:c.-115C>G, NM_001352083.1:c.-115C>G, NM_001352084.2:c.-115C>G, NM_001352084.1:c.-115C>G, NM_001330367.2:c.-115C>G, NM_001330367.1:c.-115C>G, NM_001352087.2:c.-478C>G, NM_001352087.1:c.-478C>G, XM_011520735.2:c.-451C>G, XM_011520735.1:c.-451C>G, NR_148936.1:n.198G>C, XM_047429089.1:c.-740C>G, XM_047429083.1:c.-447C>G, XM_047429090.1:c.-447C>G, XM_047429082.1:c.-401C>G, XM_047429081.1:c.-396C>G, NM_001387000.1:c.-324C>G, XM_047429085.1:c.-319C>G, XM_047429086.1:c.-314C>G, XM_047429084.1:c.-254C>G, XM_047429094.1:c.-324C>G, XM_047429092.1:c.-197C>G, XM_047429093.1:c.-182C>G, XM_047429096.1:c.-478C>G
16.
rs1482135099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:28186354
(GRCh38)
12:28339287
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28186353:A:G
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- 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:
17.
rs1481954468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:28185689
(GRCh38)
12:28338622
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28185688:A:T
- Gene:
- LOC729291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1481170662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:28189900
(GRCh38)
12:28342833
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28189899:AA:A
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1481039251 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GGCA>-
[Show Flanks]
- Chromosome:
- 12:28189643
(GRCh38)
12:28342576
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28189642:GGCA:
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1480972837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:28190098
(GRCh38)
12:28343031
(GRCh37)
- Canonical SPDI:
- NC_000012.12:28190097:A:G
- Gene:
- CCDC91 (Varview), LOC729291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: