Links from Nucleotide
Items: 1 to 20 of 1434
1.
rs1491533833 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:82424442
(GRCh38)
4:83345595
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82424441:TG:
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000064/9
(GnomAD)
-=0.000076/20
(TOPMED)
- HGVS:
2.
rs1491368528 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:82423776
(GRCh38)
4:83344929
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423775:CA:
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000022/3
(GnomAD)
- HGVS:
3.
rs1491320376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:82423776
(GRCh38)
4:83344930
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423776:A:AA
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
4.
rs1491280832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:82424442
(GRCh38)
4:83345596
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82424442:G:GG
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000083/22
(TOPMED)
G=0.0001/14
(GnomAD)
- HGVS:
5.
rs1490848042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:82424063
(GRCh38)
4:83345216
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82424062:C:G,NC_000004.12:82424062:C:T
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.82424063C>G, NC_000004.12:g.82424063C>T, NC_000004.11:g.83345216C>G, NC_000004.11:g.83345216C>T, NG_029681.1:g.11163G>C, NG_029681.1:g.11163G>A, NM_031372.4:c.*843G>C, NM_031372.4:c.*843G>A, NM_031372.3:c.*843G>C, NM_031372.3:c.*843G>A, NR_003249.2:n.2746G>C, NR_003249.2:n.2746G>A, NM_001207000.1:c.*843G>C, NM_001207000.1:c.*843G>A, NM_005463.2:c.*815G>C, NM_005463.2:c.*815G>A
6.
rs1490409649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:82424398
(GRCh38)
4:83345551
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82424397:C:T
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488760990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:82423270
(GRCh38)
4:83344423
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423269:G:A
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000069/1
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000045/12
(TOPMED)
- HGVS:
8.
rs1488114408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:82423764
(GRCh38)
4:83344917
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423763:A:G
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1487439247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:82424143
(GRCh38)
4:83345296
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82424142:C:G
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
10.
rs1487311006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:82423552
(GRCh38)
4:83344705
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423551:A:G
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_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.
rs1487023564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:82424447
(GRCh38)
4:83345600
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82424446:C:A
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
12.
rs1485429338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTTGATAGTAGCTTCAGTTCATCCAACCTAGGACACTTAGCCTTAGA>-
[Show Flanks]
- Chromosome:
- 4:82422946
(GRCh38)
4:83344099
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82422942:AGATCTTGATAGTAGCTTCAGTTCATCCAACCTAGGACACTTAGCCTTAGA:AGA
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
- HGVS:
13.
rs1485363183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:82423022
(GRCh38)
4:83344175
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423021:G:A
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1485138725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:82423813
(GRCh38)
4:83344966
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423812:A:G
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
15.
rs1484381165 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 4:82422742
(GRCh38)
4:83343895
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82422740:TTT:T
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484279022 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCC
[Show Flanks]
- Chromosome:
- 4:82427217
(GRCh38)
4:83348371
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82427217:TCC:TCCTCC
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCTCC=0./0
(
ALFA)
TCC=0.000004/1
(TOPMED)
TCC=0.00002/5
(GnomAD_exomes)
- HGVS:
NC_000004.12:g.82427218_82427220dup, NC_000004.11:g.83348371_83348373dup, NG_029681.1:g.8006_8008dup, NM_031372.4:c.991_993dup, NM_031372.3:c.991_993dup, NR_003249.2:n.1526_1528dup, NM_001207000.1:c.991_993dup, NM_005463.2:c.991_993dup, NM_005463.1:c.991_993dup, NP_112740.1:p.Gly331dup, NP_001193929.1:p.Gly331dup
17.
rs1484048338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:82429448
(GRCh38)
4:83350601
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82429447:C:G
- Gene:
- HNRNPDL (Varview), ENOPH1 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1483076968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:82423602
(GRCh38)
4:83344755
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82423601:C:T
- Gene:
- HNRNPDL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
19.
rs1482643390 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCGCGGGCCAAGGG>-
[Show Flanks]
- Chromosome:
- 4:82430156
(GRCh38)
4:83351309
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82430152:GGGCGCGCGGGCCAAGGG:GGG
- Gene:
- HNRNPDL (Varview), ENOPH1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS: