Links from Gene
Items: 1 to 20 of 2329
1.
rs1491367177 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:117649491
(GRCh38)
9:120411769
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117649490:CA:
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000036/4
(GnomAD)
- HGVS:
3.
rs1490266275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:117654502
(GRCh38)
9:120416780
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117654501:C:T
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
4.
rs1489610705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:117650288
(GRCh38)
9:120412566
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117650287:G:A
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488932128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:117651169
(GRCh38)
9:120413447
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117651168:A:G
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488801057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:117652588
(GRCh38)
9:120414866
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117652587:A:T
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488197308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:117647376
(GRCh38)
9:120409654
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117647375:G:T
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
8.
rs1487952836 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATAGA
[Show Flanks]
- Chromosome:
- 9:117651593
(GRCh38)
9:120413872
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117651593:ATAGA:ATAGAATAGA
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAGAATAGA=0./0
(
ALFA)
ATAGA=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487901932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:117652719
(GRCh38)
9:120414997
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117652718:T:A
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
10.
rs1487859743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:117648152
(GRCh38)
9:120410430
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117648151:A:G
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
11.
rs1487069931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:117656850
(GRCh38)
9:120419128
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117656849:C:T
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1486633743 has merged into rs5900299 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 9:117649971
(GRCh38)
9:120412249
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117649970:AAAAA:AAAA,NC_000009.12:117649970:AAAAA:AAAAAA
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.048091/612
(
ALFA)
-=0.122817/225
(Korea1K)
-=0.124354/2084
(TOMMO)
-=0.125/5
(GENOME_DK)
-=0.126168/27
(Vietnamese)
-=0.129989/482
(TWINSUK)
-=0.132071/509
(ALSPAC)
-=0.133705/599
(Estonian)
-=0.139279/139
(GoNL)
-=0.171491/45392
(TOPMED)
-=0.175/105
(NorthernSweden)
A=0.188698/945
(1000Genomes)
- HGVS:
14.
rs1486368923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:117649025
(GRCh38)
9:120411303
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117649024:C:T
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
15.
rs1485845780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:117648357
(GRCh38)
9:120410635
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117648356:T:G
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1485017247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:117653721
(GRCh38)
9:120415999
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117653720:A:G
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1484681372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:117650825
(GRCh38)
9:120413103
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117650824:T:C
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000038/10
(TOPMED)
- HGVS:
19.
rs1484114353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:117647532
(GRCh38)
9:120409810
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117647531:C:T
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1483895797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:117654404
(GRCh38)
9:120416682
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117654403:A:G
- Gene:
- LOC101928797 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS: