Links from Gene
Items: 1 to 20 of 568
1.
rs1487844130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97364063
(GRCh38)
9:100126345
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364062:C:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
2.
rs1486123678 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:97363177
(GRCh38)
9:100125459
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97363176:G:
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
3.
rs1485749608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:97363594
(GRCh38)
9:100125876
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97363593:T:C
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,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:
4.
rs1482217873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97365197
(GRCh38)
9:100127479
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97365196:C:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1481752886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97365578
(GRCh38)
9:100127860
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97365577:A:G
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1481461865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97364701
(GRCh38)
9:100126983
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364700:C:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
7.
rs1479798795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:97363353
(GRCh38)
9:100125635
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97363352:C:A
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479707678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:97365203
(GRCh38)
9:100127485
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97365202:C:A
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1478162351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:97364407
(GRCh38)
9:100126689
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364406:G:A,NC_000009.12:97364406:G:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/3
(
ALFA)
T=0.00067/3
(Estonian)
- HGVS:
10.
rs1477346346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:97363996
(GRCh38)
9:100126278
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97363995:C:A
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000012/3
(GnomAD_exomes)
- HGVS:
11.
rs1474833991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:97363772
(GRCh38)
9:100126054
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97363771:G:A
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1473368899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97364697
(GRCh38)
9:100126979
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364696:C:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
13.
rs1472390512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97365186
(GRCh38)
9:100127468
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97365185:A:G
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1471069910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:97364471
(GRCh38)
9:100126753
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364470:AAAA:AAA
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
15.
rs1469945424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:97364019
(GRCh38)
9:100126301
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364018:C:G
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000031/1
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1468551650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97363530
(GRCh38)
9:100125812
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97363529:A:G
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1465488874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:97364532
(GRCh38)
9:100126814
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364531:A:C
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1465292739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97364271
(GRCh38)
9:100126553
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97364270:C:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_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)
- HGVS:
20.
rs1464809380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97365643
(GRCh38)
9:100127925
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97365642:C:T
- Gene:
- SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: