Links from Nucleotide
Items: 1 to 20 of 112
1.
rs1489689922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:101469351
(GRCh38)
9:104231633
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469350:G:T
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
2.
rs1479170643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:101469431
(GRCh38)
9:104231713
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469430:G:A
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1475626528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:101479887
(GRCh38)
9:104242169
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101479886:C:A
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1468422840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:101469588
(GRCh38)
9:104231870
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469587:T:A
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1466001713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:101469522
(GRCh38)
9:104231804
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469521:A:C
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1460793784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:101481416
(GRCh38)
9:104243698
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101481415:T:G
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
7.
rs1454259320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:101469337
(GRCh38)
9:104231619
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469336:T:C
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
8.
rs1446963794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:101481391
(GRCh38)
9:104243673
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101481390:T:C
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
9.
rs1421259482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:101479910
(GRCh38)
9:104242192
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101479909:G:C
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1401614543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:101479870
(GRCh38)
9:104242152
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101479869:G:C
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1392609427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:101469392
(GRCh38)
9:104231674
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469391:G:A
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1389689039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:101469412
(GRCh38)
9:104231694
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469411:G:C
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1387620189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:101469391
(GRCh38)
9:104231673
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469390:T:C
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000053/14
(TOPMED)
- HGVS:
14.
rs1380971359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:101481392
(GRCh38)
9:104243674
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101481391:G:A
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (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:
15.
rs1380813957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:101481423
(GRCh38)
9:104243705
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101481422:A:G
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1353044799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:101481376
(GRCh38)
9:104243658
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101481375:C:T
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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=0.000106/3
(TOMMO)
T=0.000684/2
(KOREAN)
- HGVS:
18.
rs1343800920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:101469381
(GRCh38)
9:104231663
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469380:A:G
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1341824839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 9:101481499
(GRCh38)
9:104243781
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101481496:TTCTT:TT
- Gene:
- PGAP4 (Varview), TMEM246-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1333094095 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:101469517
(GRCh38)
9:104231799
(GRCh37)
- Canonical SPDI:
- NC_000009.12:101469516:TTT:TT
- Gene:
- TMEM246-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS: