Links from Nucleotide
Items: 1 to 20 of 259
1.
rs1489782651 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:163052001
(GRCh38)
6:163473033
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051997:TATAT:TAT
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
2.
rs1489397969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:163042990
(GRCh38)
6:163464022
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163042989:C:G
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1485288983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:163052008
(GRCh38)
6:163473040
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163052007:G:A
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000594/11
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000114/16
(GnomAD)
A=0.002455/11
(Estonian)
- HGVS:
4.
rs1483792770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:163051281
(GRCh38)
6:163472313
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051280:T:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
6.
rs1481264048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:163043024
(GRCh38)
6:163464056
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163043023:A:G,NC_000006.12:163043023:A:T
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1479874508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:163051844
(GRCh38)
6:163472876
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051843:T:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1476541778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:163054095
(GRCh38)
6:163475127
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163054094:G:A
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1474568786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:163051731
(GRCh38)
6:163472763
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051730:G:A
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1469008162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:163051506
(GRCh38)
6:163472538
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051505:A:G
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1468780955 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 6:163046653
(GRCh38)
6:163467685
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163046652:A:
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1468014235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:163051458
(GRCh38)
6:163472490
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051457:T:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
13.
rs1466322934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:163051476
(GRCh38)
6:163472508
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051475:T:G
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1459096607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:163046629
(GRCh38)
6:163467661
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163046628:T:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
15.
rs1455270138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:163043124
(GRCh38)
6:163464156
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163043123:G:A,NC_000006.12:163043123:G:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
16.
rs1453874007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:163043150
(GRCh38)
6:163464182
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163043149:T:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1453604807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:163051601
(GRCh38)
6:163472633
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051600:T:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1452002442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:163051395
(GRCh38)
6:163472427
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051394:G:A,NC_000006.12:163051394:G:C
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1439693788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:163051422
(GRCh38)
6:163472454
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163051421:T:G
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1435208732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:163043094
(GRCh38)
6:163464126
(GRCh37)
- Canonical SPDI:
- NC_000006.12:163043093:A:G
- Gene:
- PACRG (Varview), PACRG-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000045/12
(TOPMED)
G=0.00046/8
(TOMMO)
G=0.002053/6
(KOREAN)
G=0.002183/4
(Korea1K)
- HGVS: