Links from Nucleotide
Items: 1 to 20 of 150
1.
rs1488538193 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:73508979
(GRCh38)
4:74374696
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73508978:AA:
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
2.
rs1488054656 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGA>-
[Show Flanks]
- Chromosome:
- 4:73509195
(GRCh38)
4:74374912
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73509189:GAAGAAGA:GAAGA
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
-=0.000142/2
(TOMMO)
- HGVS:
3.
rs1479614629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:73509690
(GRCh38)
4:74375407
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73509689:C:A
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1470808646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:73510263
(GRCh38)
4:74375980
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73510262:A:G
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- 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:
5.
rs1468646403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:73528493
(GRCh38)
4:74394210
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73528492:T:G
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1460159487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:73528461
(GRCh38)
4:74394178
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73528460:T:C
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
7.
rs1454219903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:73508958
(GRCh38)
4:74374675
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73508957:A:G
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000042/11
(TOPMED)
G=0.000064/9
(GnomAD)
- HGVS:
8.
rs1446040697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:73528531
(GRCh38)
4:74394248
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73528530:G:A,NC_000004.12:73528530:G:C
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
9.
rs1445508993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:73508865
(GRCh38)
4:74374582
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73508864:G:A
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1442838557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:73510216
(GRCh38)
4:74375933
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73510215:G:A
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1441474981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAGG
[Show Flanks]
- Chromosome:
- 4:73509198
(GRCh38)
4:74374916
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73509198:GGAGG:GGAGGGGAGG
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGAGGGGAGG=0.000071/1
(
ALFA)
GGAGG=0.000007/1
(GnomAD)
GGAGG=0.000019/5
(TOPMED)
- HGVS:
12.
rs1433985227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:73510327
(GRCh38)
4:74376044
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73510326:A:C
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1427154042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:73508848
(GRCh38)
4:74374565
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73508847:A:G
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- 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:
15.
rs1426794937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:73509138
(GRCh38)
4:74374855
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73509137:C:G
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1426775303 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAAACCACAGTTA>-
[Show Flanks]
- Chromosome:
- 4:73510255
(GRCh38)
4:74375972
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73510252:TACAAACCACAGTTA:TA
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1426073602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:73510225
(GRCh38)
4:74375942
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73510224:T:C
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
18.
rs1409275993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:73509124
(GRCh38)
4:74374841
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73509123:T:C,NC_000004.12:73509123:T:G
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
C=0.000106/2
(TOMMO)
- HGVS:
19.
rs1408033004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:73510244
(GRCh38)
4:74375961
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73510243:A:G,NC_000004.12:73510243:A:T
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1406798870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:73509227
(GRCh38)
4:74374944
(GRCh37)
- Canonical SPDI:
- NC_000004.12:73509226:G:A
- Gene:
- LINC02499 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.001667/1
(NorthernSweden)
- HGVS: