Links from Gene
Items: 1 to 20 of 2662
1.
rs1490823893 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:77761106
(GRCh38)
14:78227450
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77761106:AA:AAA
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00008/1
(GoESP)
- HGVS:
2.
rs1490708888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:77765386
(GRCh38)
14:78231729
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77765385:G:C
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
3.
rs1490694121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:77766468
(GRCh38)
14:78232811
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77766467:T:C
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490621029 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGATT>-
[Show Flanks]
- Chromosome:
- 14:77767801
(GRCh38)
14:78234144
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77767797:ATTTTGATT:ATT
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATT=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490525831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:77759899
(GRCh38)
14:78226242
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77759898:C:A
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490013823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:77760913
(GRCh38)
14:78227256
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77760912:AAA:AA
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489948731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77760105
(GRCh38)
14:78226448
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77760104:C:T
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
8.
rs1489631069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:77767262
(GRCh38)
14:78233605
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77767261:T:A
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.03904/114
(KOREAN)
- HGVS:
9.
rs1489492665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:77768854
(GRCh38)
14:78235197
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77768853:C:A,NC_000014.9:77768853:C:T
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489161727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77760732
(GRCh38)
14:78227075
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77760731:C:T
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000031/4
(GnomAD_exomes)
T=0.00463/1
(Vietnamese)
- HGVS:
11.
rs1488991720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:77769020
(GRCh38)
14:78235363
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77769019:A:C
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488601791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:77761212
(GRCh38)
14:78227555
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77761211:G:C
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488466554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:77760524
(GRCh38)
14:78226867
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77760523:G:A
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488265927 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTG>-
[Show Flanks]
- Chromosome:
- 14:77761655
(GRCh38)
14:78227998
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77761654:TTG:
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
15.
rs1487674686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77768235
(GRCh38)
14:78234578
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77768234:A:G
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487532808 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTT
[Show Flanks]
- Chromosome:
- 14:77769938
(GRCh38)
14:78236282
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77769938::TTT
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
TTT=0.000004/1
(TOPMED)
TTT=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487307421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:77760965
(GRCh38)
14:78227308
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77760964:G:A,NC_000014.9:77760964:G:T
- Gene:
- SNW1 (Varview), C14orf178 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000038/10
(TOPMED)
- HGVS:
NC_000014.9:g.77760965G>A, NC_000014.9:g.77760965G>T, NC_000014.8:g.78227308G>A, NC_000014.8:g.78227308G>T, NM_174943.3:c.-78G>A, NM_174943.3:c.-78G>T, NR_161323.1:n.198G>A, NR_161323.1:n.198G>T, NR_161324.1:n.198G>A, NR_161324.1:n.198G>T, NM_001173978.1:c.-154G>A, NM_001173978.1:c.-154G>T
18.
rs1487098980 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:77768977
(GRCh38)
14:78235320
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77768976:G:A
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486414924 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:77766930
(GRCh38)
14:78233273
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77766929:C:
- Gene:
- C14orf178 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS: