Links from Gene
Items: 1 to 20 of 1000
1.
rs1490979487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105183306
(GRCh38)
14:105649643
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105183305:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490797352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:105176615
(GRCh38)
14:105642952
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105176614:T:A
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490548579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:105180194
(GRCh38)
14:105646531
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105180193:T:C
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490192924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:105176181
(GRCh38)
14:105642518
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105176180:A:G
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489842199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:105181262
(GRCh38)
14:105647599
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105181261:C:A,NC_000014.9:105181261:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.105181262C>A, NC_000014.9:g.105181262C>T, NC_000014.8:g.105647599C>A, NC_000014.8:g.105647599C>T, NM_177533.5:c.-53G>T, NM_177533.5:c.-53G>A, NM_177533.4:c.-53G>T, NM_177533.4:c.-53G>A, NM_001318380.2:c.-53G>T, NM_001318380.2:c.-53G>A, NM_001318380.1:c.-53G>T, NM_001318380.1:c.-53G>A
6.
rs1489320241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105177543
(GRCh38)
14:105643880
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105177542:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489318358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:105172452
(GRCh38)
14:105638789
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105172451:G:A
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
8.
rs1489197807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 14:105174845
(GRCh38)
14:105641182
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105174844:G:C,NC_000014.9:105174844:G:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489070623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:105180982
(GRCh38)
14:105647319
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105180981:G:A
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
11.
rs1488028339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105176953
(GRCh38)
14:105643290
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105176952:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1487934080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:105182957
(GRCh38)
14:105649294
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105182956:G:A
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1487133009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:105175370
(GRCh38)
14:105641707
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105175369:T:C
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487006272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105173070
(GRCh38)
14:105639407
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105173069:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1486976773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:105179904
(GRCh38)
14:105646241
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105179903:G:C
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486848643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105179497
(GRCh38)
14:105645834
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105179496:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000156/1
(1000Genomes)
T=0.00463/1
(Vietnamese)
- HGVS:
18.
rs1486443049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105179410
(GRCh38)
14:105645747
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105179409:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
19.
rs1486418301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:105180494
(GRCh38)
14:105646831
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105180493:G:A,NC_000014.9:105180493:G:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1485788761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105173697
(GRCh38)
14:105640034
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105173696:C:T
- Gene:
- NUDT14 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS: