Links from Gene
Items: 1 to 20 of 1071
1.
rs1490993367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:16987638
(GRCh38)
12:17140572
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16987637:A:G
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490967831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:16988675
(GRCh38)
12:17141609
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16988674:G:A
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
3.
rs1490409218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:16989196
(GRCh38)
12:17142130
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16989195:C:T
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1489035195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:16991068
(GRCh38)
12:17144002
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16991067:C:G
- Gene:
- SKP1P2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1488647639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:16988176
(GRCh38)
12:17141110
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16988175:G:C
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000136/19
(GnomAD)
- HGVS:
7.
rs1486766826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:16987195
(GRCh38)
12:17140129
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16987194:T:C
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1486284736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:16990079
(GRCh38)
12:17143013
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16990078:A:G
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484212835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:16987370
(GRCh38)
12:17140304
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16987369:T:A
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1484160561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:16989856
(GRCh38)
12:17142790
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16989855:A:T
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.001369/4
(KOREAN)
- HGVS:
13.
rs1483690739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:16988583
(GRCh38)
12:17141517
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16988582:G:A
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1482998647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:16987751
(GRCh38)
12:17140685
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16987750:T:C,NC_000012.12:16987750:T:G
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1481960208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:16990194
(GRCh38)
12:17143128
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16990193:C:T
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1481757235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:16986946
(GRCh38)
12:17139880
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16986945:AA:A
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1481702477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:16988194
(GRCh38)
12:17141128
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16988193:A:T
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1479486432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:16988292
(GRCh38)
12:17141226
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16988291:A:G
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
20.
rs1479308468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:16988825
(GRCh38)
12:17141759
(GRCh37)
- Canonical SPDI:
- NC_000012.12:16988824:T:C
- Gene:
- SKP1P2 (Varview), LOC105369677 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_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: