Links from Gene
Items: 1 to 20 of 13212
1.
rs1491571184 has merged into rs201847402 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATA>-,TATA,TATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 14:96049583
(GRCh38)
14:96515920
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049580:TATATATATA:TA,NC_000014.9:96049580:TATATATATA:TATATA,NC_000014.9:96049580:TATATATATA:TATATATA,NC_000014.9:96049580:TATATATATA:TATATATATATA
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0./0
(
ALFA)
-=0.00171/3
(Korea1K)
-=0.00182/7
(ALSPAC)
-=0.00324/12
(TWINSUK)
- HGVS:
2.
rs1491490668 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:96049639
(GRCh38)
14:96515976
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049638:CG:
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/1
(TOMMO)
- HGVS:
3.
rs1491481299 has merged into rs1555385090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA
[Show Flanks]
- Chromosome:
- 14:96064395
(GRCh38)
14:96530732
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96064393:ATATA:A,NC_000014.9:96064393:ATATA:ATA,NC_000014.9:96064393:ATATA:ATATATA,NC_000014.9:96064393:ATATA:ATATATATA
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATA=0./0
(
ALFA)
AT=0.00011/2
(TOMMO)
AT=0.29396/1090
(TWINSUK)
AT=0.30799/1187
(ALSPAC)
- HGVS:
4.
rs1491477215 has merged into rs1555384130 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 14:96049670
(GRCh38)
14:96516007
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000014.9:96049653:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAG=0./0
(
ALFA)
AGAGAG=0.01709/8
(NorthernSweden)
AGAGAGAG=0.06946/1055
(TOMMO)
AGAGAGAG=0.07521/91
(Korea1K)
- HGVS:
NC_000014.9:g.96049654AG[8], NC_000014.9:g.96049654AG[9], NC_000014.9:g.96049654AG[11], NC_000014.9:g.96049654AG[12], NC_000014.9:g.96049654AG[13], NC_000014.9:g.96049654AG[14], NC_000014.9:g.96049654AG[15], NC_000014.9:g.96049654AG[16], NC_000014.9:g.96049654AG[17], NC_000014.8:g.96515991AG[8], NC_000014.8:g.96515991AG[9], NC_000014.8:g.96515991AG[11], NC_000014.8:g.96515991AG[12], NC_000014.8:g.96515991AG[13], NC_000014.8:g.96515991AG[14], NC_000014.8:g.96515991AG[15], NC_000014.8:g.96515991AG[16], NC_000014.8:g.96515991AG[17]
5.
rs1491446586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 14:96049639
(GRCh38)
14:96515977
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049639:GT:GTGT
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGT=0./0
(
ALFA)
GT=0.00012/5
(GnomAD)
GT=0.00014/2
(TOMMO)
- HGVS:
6.
rs1491433095 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:96049640
(GRCh38)
14:96515977
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049639:GT:
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00012/5
(GnomAD)
- HGVS:
7.
rs1491391080 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:96049599
(GRCh38)
14:96515936
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049598:CG:
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
9.
rs1491284910 has merged into rs761898585 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 14:96038608
(GRCh38)
14:96504945
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96038606:ATA:A,NC_000014.9:96038606:ATA:ATATA
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000169/2
(
ALFA)
-=0.000057/8
(GnomAD)
- HGVS:
10.
rs1491229282 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:96049580
(GRCh38)
14:96515917
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049579:GT:
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS:
11.
rs1491178234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTATATAT
[Show Flanks]
- Chromosome:
- 14:96049599
(GRCh38)
14:96515937
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96049599:GTATATAT:GTATATATGTATATAT
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTATATATGTATATAT=0./0
(
ALFA)
GTATATAT=0.00004/4
(GnomAD)
- HGVS:
12.
rs1491135563 has merged into rs55648129 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 14:96069267
(GRCh38)
14:96535604
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000014.9:96069256:ATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATAT=0./0
(
ALFA)
ATATATATATATATATATATATATAT=0./0
(GENOME_DK)
- HGVS:
NC_000014.9:g.96069257AT[5], NC_000014.9:g.96069257AT[6], NC_000014.9:g.96069257AT[7], NC_000014.9:g.96069257AT[8], NC_000014.9:g.96069257AT[9], NC_000014.9:g.96069257AT[10], NC_000014.9:g.96069257AT[11], NC_000014.9:g.96069257AT[12], NC_000014.9:g.96069257AT[13], NC_000014.9:g.96069257AT[14], NC_000014.9:g.96069257AT[15], NC_000014.9:g.96069257AT[16], NC_000014.9:g.96069257AT[17], NC_000014.9:g.96069257AT[18], NC_000014.9:g.96069257AT[19], NC_000014.9:g.96069257AT[20], NC_000014.9:g.96069257AT[21], NC_000014.9:g.96069257AT[22], NC_000014.9:g.96069257AT[23], NC_000014.9:g.96069257AT[24], NC_000014.9:g.96069257AT[26], NC_000014.9:g.96069257AT[27], NC_000014.9:g.96069257AT[28], NC_000014.9:g.96069257AT[29], NC_000014.9:g.96069257AT[30], NC_000014.9:g.96069257AT[31], NC_000014.9:g.96069257AT[32], NC_000014.9:g.96069257AT[34], NC_000014.8:g.96535594AT[5], NC_000014.8:g.96535594AT[6], NC_000014.8:g.96535594AT[7], NC_000014.8:g.96535594AT[8], NC_000014.8:g.96535594AT[9], NC_000014.8:g.96535594AT[10], NC_000014.8:g.96535594AT[11], NC_000014.8:g.96535594AT[12], NC_000014.8:g.96535594AT[13], NC_000014.8:g.96535594AT[14], NC_000014.8:g.96535594AT[15], NC_000014.8:g.96535594AT[16], NC_000014.8:g.96535594AT[17], NC_000014.8:g.96535594AT[18], NC_000014.8:g.96535594AT[19], NC_000014.8:g.96535594AT[20], NC_000014.8:g.96535594AT[21], NC_000014.8:g.96535594AT[22], NC_000014.8:g.96535594AT[23], NC_000014.8:g.96535594AT[24], NC_000014.8:g.96535594AT[26], NC_000014.8:g.96535594AT[27], NC_000014.8:g.96535594AT[28], NC_000014.8:g.96535594AT[29], NC_000014.8:g.96535594AT[30], NC_000014.8:g.96535594AT[31], NC_000014.8:g.96535594AT[32], NC_000014.8:g.96535594AT[34]
13.
rs1491116080 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:96069256
(GRCh38)
14:96535593
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96069255:CA:
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00025/3
(
ALFA)
-=0.00006/4
(GnomAD)
- HGVS:
14.
rs1491016471 has merged into rs11311729 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 14:96074559
(GRCh38)
14:96540896
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:96074548:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.3261/1633
(1000Genomes)
- HGVS:
NC_000014.9:g.96074559_96074562del, NC_000014.9:g.96074560_96074562del, NC_000014.9:g.96074561_96074562del, NC_000014.9:g.96074562del, NC_000014.9:g.96074562dup, NC_000014.9:g.96074561_96074562dup, NC_000014.9:g.96074560_96074562dup, NC_000014.8:g.96540896_96540899del, NC_000014.8:g.96540897_96540899del, NC_000014.8:g.96540898_96540899del, NC_000014.8:g.96540899del, NC_000014.8:g.96540899dup, NC_000014.8:g.96540898_96540899dup, NC_000014.8:g.96540897_96540899dup
15.
rs1490944774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:96087111
(GRCh38)
14:96553448
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96087110:T:C
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.96087111T>C, NC_000014.8:g.96553448T>C, NM_001252507.3:c.*376T>C, NM_001252507.2:c.*376T>C, NM_001252507.1:c.*376T>C, NM_001282463.2:c.*376T>C, NM_001282463.1:c.*376T>C, NM_001289139.2:c.*376T>C, NM_001289139.1:c.*376T>C, NM_020215.2:c.-3432T>C, NR_023938.1:n.804T>C
16.
rs1490921918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:96072125
(GRCh38)
14:96538462
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96072124:C:T
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1490901923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:96063751
(GRCh38)
14:96530088
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96063750:C:T
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000446/2
(Estonian)
- HGVS:
18.
rs1490888809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:96086234
(GRCh38)
14:96552571
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96086233:T:C
- Gene:
- C14orf132 (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:
19.
rs1490823465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:96046840
(GRCh38)
14:96513177
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96046839:A:G
- Gene:
- C14orf132 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000094/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490785082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:96043686
(GRCh38)
14:96510023
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96043685:G:A,NC_000014.9:96043685:G:C
- Gene:
- C14orf132 (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: