Links from Nucleotide
Items: 1 to 20 of 122
1.
rs1487495441 has merged into rs1189537057 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT
[Show Flanks]
- Chromosome:
- 6:95577385
(GRCh38)
6:96025261
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577382:CTCTCT:CT,NC_000006.12:95577382:CTCTCT:CTCT
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CT=0./0
(
ALFA)
-=0.00006/16
(TOPMED)
- HGVS:
2.
rs1483872414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:95567288
(GRCh38)
6:96015164
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95567287:T:G
- Gene:
- MANEA-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_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:
3.
rs1480808044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:95577371
(GRCh38)
6:96025247
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577370:C:G
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
4.
rs1477242129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:95567266
(GRCh38)
6:96015142
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95567265:G:T
- Gene:
- MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
5.
rs1472420214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:95577243
(GRCh38)
6:96025120
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577243:A:AA
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1471990265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:95577139
(GRCh38)
6:96025015
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577138:T:A
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1467867392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:95567255
(GRCh38)
6:96015131
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95567254:G:A
- Gene:
- MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1453801757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:95577447
(GRCh38)
6:96025324
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577447:CCCC:CCCCC
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1448491505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:95577361
(GRCh38)
6:96025237
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577360:C:G
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1437757035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 6:95577257
(GRCh38)
6:96025133
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577256:CCC:CC
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
12.
rs1435030341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:95577340
(GRCh38)
6:96025216
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577339:C:A,NC_000006.12:95577339:C:T
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1425967714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:95577209
(GRCh38)
6:96025085
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577208:C:T
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1421590945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:95577427
(GRCh38)
6:96025303
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577426:G:T
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1410534457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:95577239
(GRCh38)
6:96025115
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577237:TGT:T
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1410062508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:95577358
(GRCh38)
6:96025234
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577357:T:C
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000008/2
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1405498074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:95577387
(GRCh38)
6:96025263
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577386:C:T
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1403964804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:95577234
(GRCh38)
6:96025110
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577233:C:T
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
19.
rs1390435030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:95577111
(GRCh38)
6:96024987
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577110:G:A
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
20.
rs1386386064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:95577126
(GRCh38)
6:96025002
(GRCh37)
- Canonical SPDI:
- NC_000006.12:95577125:A:C
- Gene:
- MANEA (Varview), MANEA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: