Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491542850 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 10:69575820
(GRCh38)
10:71335576
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69575819:CC:
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000745/12
(TOMMO)
-=0.002626/309
(GnomAD)
-=0.002729/5
(Korea1K)
- HGVS:
2.
rs1491091790 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 10:69575820
(GRCh38)
10:71335577
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69575820::TT
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TT=0.000178/21
(GnomAD)
TT=0.000213/4
(TOMMO)
- HGVS:
3.
rs1491041793 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCT,TCT
[Show Flanks]
- Chromosome:
- 10:69575814
(GRCh38)
10:71335571
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69575814:CT:CTGCT,NC_000010.11:69575814:CT:CTTCT
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTGCT=0.00008/1
(
ALFA)
CTG=0.00002/2
(GnomAD)
CTT=0.00006/1
(TOMMO)
- HGVS:
4.
rs1490517006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 10:69576078
(GRCh38)
10:71335834
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69576077:C:G,NC_000010.11:69576077:C:T
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.69576078C>G, NC_000010.11:g.69576078C>T, NC_000010.10:g.71335834C>G, NC_000010.10:g.71335834C>T, NG_021321.1:g.2377G>C, NG_021321.1:g.2377G>A, NG_050925.1:g.262C>G, NG_050925.1:g.262C>T, XR_428765.3:n.171C>G, XR_428765.3:n.171C>T, XR_428765.2:n.147C>G, XR_428765.2:n.147C>T, XR_428765.1:n.112C>G, XR_428765.1:n.112C>T, XR_946037.2:n.438C>G, XR_946037.2:n.438C>T, XR_946037.1:n.415C>G, XR_946037.1:n.415C>T
5.
rs1490120314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:69572352
(GRCh38)
10:71332108
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69572351:C:T
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
6.
rs1490018503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:69575238
(GRCh38)
10:71334994
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69575237:C:T
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489443633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,CCC
[Show Flanks]
- Chromosome:
- 10:69577058
(GRCh38)
10:71336814
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69577056:CCC:C,NC_000010.11:69577056:CCC:CCCC
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.69577058_69577059del, NC_000010.11:g.69577059dup, NC_000010.10:g.71336814_71336815del, NC_000010.10:g.71336815dup, NG_021321.1:g.1397_1398del, NG_021321.1:g.1398dup, NG_050925.1:g.1242_1243del, NG_050925.1:g.1243dup, XR_428765.3:n.306_307del, XR_428765.3:n.307dup, XR_428765.2:n.282_283del, XR_428765.2:n.283dup, XR_428765.1:n.247_248del, XR_428765.1:n.248dup, XR_946037.2:n.573_574del, XR_946037.2:n.574dup, XR_946037.1:n.550_551del, XR_946037.1:n.551dup
8.
rs1489406179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:69576485
(GRCh38)
10:71336241
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69576484:C:T
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489246102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:69574066
(GRCh38)
10:71333822
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69574065:G:A
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000177/3
(TOMMO)
- HGVS:
10.
rs1489052739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:69575221
(GRCh38)
10:71334977
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69575220:G:A
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
11.
rs1488843095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:69571108
(GRCh38)
10:71330864
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69571107:C:T
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_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:
12.
rs1488463789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:69576181
(GRCh38)
10:71335937
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69576180:C:T
- Gene:
- LOC101929021 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487289349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 10:69574929
(GRCh38)
10:71334685
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69574928:G:A,NC_000010.11:69574928:G:T
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486885269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:69571991
(GRCh38)
10:71331747
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69571990:C:A
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486754351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:69572381
(GRCh38)
10:71332137
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69572380:A:G
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1486576734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:69578394
(GRCh38)
10:71338150
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69578393:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1486568428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:69572756
(GRCh38)
10:71332512
(GRCh37)
- Canonical SPDI:
- NC_000010.11:69572755:C:T
- Gene:
- NEUROG3 (Varview), LOC101929021 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS: