Links from Gene
Items: 1 to 20 of 1020
1.
rs1490581643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:16790794
(GRCh38)
17:16694108
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16790793:T:C
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000169/2
(
ALFA)
C=0.000043/6
(GnomAD)
- HGVS:
3.
rs1489717739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:16790020
(GRCh38)
17:16693334
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16790019:G:A,NC_000017.11:16790019:G:T
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488120727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:16787965
(GRCh38)
17:16691279
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16787964:C:G,NC_000017.11:16787964:C:T
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
7.
rs1487114898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:16789895
(GRCh38)
17:16693209
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16789894:A:T
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000253/3
(
ALFA)
T=0.000128/18
(GnomAD)
T=0.000177/3
(TOMMO)
T=0.001027/3
(KOREAN)
- HGVS:
9.
rs1486801102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:16790828
(GRCh38)
17:16694142
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16790827:C:T
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000312/2
(1000Genomes)
- HGVS:
10.
rs1485818953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:16787685
(GRCh38)
17:16690999
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16787684:C:A
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1484999457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:16788839
(GRCh38)
17:16692153
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16788838:A:G
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484790248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:16787435
(GRCh38)
17:16690749
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16787434:G:A
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
13.
rs1484761200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:16788103
(GRCh38)
17:16691417
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16788102:C:T
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1484462199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:16788920
(GRCh38)
17:16692234
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16788919:T:A
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483316088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:16790420
(GRCh38)
17:16693734
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16790419:A:G
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
17.
rs1483283802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACTT
[Show Flanks]
- Chromosome:
- 17:16788331
(GRCh38)
17:16691646
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16788331:ACTT:ACTTACTT
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACTTACTT=0./0
(
ALFA)
ACTT=0.000011/3
(TOPMED)
ACTT=0.00005/7
(GnomAD)
- HGVS:
18.
rs1481804488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:16789091
(GRCh38)
17:16692405
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16789090:C:A
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
20.
rs1480820833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 17:16789608
(GRCh38)
17:16692922
(GRCh37)
- Canonical SPDI:
- NC_000017.11:16789607:G:C,NC_000017.11:16789607:G:T
- Gene:
- USP32P1 (Varview), FAM106C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: