Links from Gene
Items: 1 to 20 of 2000
1.
rs1490897559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:75156300
(GRCh38)
7:74572107
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75156300:TTTTTT:TTTTTTT
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000156/1
(1000Genomes)
- HGVS:
2.
rs1490790819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:75164228
(GRCh38)
7:74580033
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75164227:T:A
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000018/2
(GnomAD)
- HGVS:
3.
rs1490515489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:75165736
(GRCh38)
7:74581541
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75165735:G:A
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490408615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:75156726
(GRCh38)
7:74572532
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75156725:A:G
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00014/2
(TOMMO)
- HGVS:
5.
rs1489972361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:75163863
(GRCh38)
7:74579668
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75163862:T:G
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489713764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:75157774
(GRCh38)
7:74573580
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75157773:C:A
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489460097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:75162099
(GRCh38)
7:74577904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75162098:A:C,NC_000007.14:75162098:A:G
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
9.
rs1489331804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 7:75163434
(GRCh38)
7:74579239
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75163433:G:C,NC_000007.14:75163433:G:T
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000017/2
(GnomAD)
- HGVS:
10.
rs1489258889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:75162477
(GRCh38)
7:74578282
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75162476:C:T
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000106/3
(TOMMO)
T=0.000156/1
(1000Genomes)
- HGVS:
12.
rs1488627473 has merged into rs587716880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:75157304
(GRCh38)
7:74573110
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75157303:G:A
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000959/20
(
ALFA)
A=0.000418/59
(GnomAD_exomes)
A=0.000616/8
(ExAC)
A=0.001198/6
(1000Genomes)
A=0.001764/467
(TOPMED)
A=0.00177/247
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1488230576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:75165802
(GRCh38)
7:74581607
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75165801:C:A,NC_000007.14:75165801:C:T
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00468/30
(1000Genomes)
- HGVS:
14.
rs1488056034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 7:75157392
(GRCh38)
7:74573198
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75157391:C:A,NC_000007.14:75157391:C:G,NC_000007.14:75157391:C:T
- Gene:
- NCF1C (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)
G=0.000014/2
(GnomAD_exomes)
- HGVS:
NC_000007.14:g.75157392C>A, NC_000007.14:g.75157392C>G, NC_000007.14:g.75157392C>T, NW_003871064.1:g.2686628C>A, NW_003871064.1:g.2686628C>G, NW_003871064.1:g.2686628C>T, NC_000007.13:g.74573198C>A, NC_000007.13:g.74573198C>G, NC_000007.13:g.74573198C>T, NR_003187.3:n.962G>T, NR_003187.3:n.962G>C, NR_003187.3:n.962G>A, NM_001040003.1:c.837G>T, NM_001040003.1:c.837G>C, NM_001040003.1:c.837G>A
15.
rs1487982676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:75156818
(GRCh38)
7:74572624
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75156817:C:T
- Gene:
- NCF1C (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:
17.
rs1487600005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:75162089
(GRCh38)
7:74577894
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75162088:C:G
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00582/69
(
ALFA)
G=0.00625/40
(1000Genomes)
G=0.00756/590
(GnomAD)
C=0.5/2
(SGDP_PRJ)
- HGVS:
18.
rs1487143658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:75163948
(GRCh38)
7:74579753
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75163947:T:C,NC_000007.14:75163947:T:G
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486936093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:75160101
(GRCh38)
7:74575906
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75160100:A:C,NC_000007.14:75160100:A:G
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00009/1
(
ALFA)
G=0.00002/1
(GnomAD)
C=0.04138/120
(KOREAN)
- HGVS:
20.
rs1486905275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:75158902
(GRCh38)
7:74574708
(GRCh37)
- Canonical SPDI:
- NC_000007.14:75158901:C:A,NC_000007.14:75158901:C:T
- Gene:
- NCF1C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00004/3
(GnomAD)
A=0.00031/2
(1000Genomes)
- HGVS: