Links from Nucleotide
Items: 1 to 20 of 2867
1.
rs1490729536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:70085898
(GRCh38)
2:70313030
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70085897:GG:G
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
2.
rs1490703283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:70088924
(GRCh38)
2:70316056
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70088923:C:G,NC_000002.12:70088923:C:T
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490229843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:70090031
(GRCh38)
2:70317163
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70090030:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
5.
rs1490192278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:70086529
(GRCh38)
2:70313661
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70086528:C:G
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489703813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:70086335
(GRCh38)
2:70313467
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70086334:C:T
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489682214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAGTT>-
[Show Flanks]
- Chromosome:
- 2:70089113
(GRCh38)
2:70316245
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70089108:AGTTTAGTT:AGTT
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTT=0.000071/1
(
ALFA)
-=0.000068/18
(TOPMED)
-=0.000071/10
(GnomAD)
- HGVS:
8.
rs1489652098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:70087096
(GRCh38)
2:70314228
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70087095:C:T
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000035/1
(TOMMO)
T=0.000045/12
(TOPMED)
T=0.000071/10
(GnomAD)
- HGVS:
9.
rs1489318695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:70087078
(GRCh38)
2:70314210
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70087077:G:A,NC_000002.12:70087077:G:T
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1489114197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 2:70089295
(GRCh38)
2:70316427
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70089290:TCTCTC:TCTC
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489067683 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:70084703
(GRCh38)
2:70311835
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70084700:TTTT:TT
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0.000054/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
13.
rs1488848204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:70085178
(GRCh38)
2:70312310
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70085177:G:A,NC_000002.12:70085177:G:C
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000021/3
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
14.
rs1488820366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:70084645
(GRCh38)
2:70311777
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70084644:T:C
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_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.
rs1488676300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:70086721
(GRCh38)
2:70313853
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70086720:G:A,NC_000002.12:70086720:G:C,NC_000002.12:70086720:G:T
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488644617 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGA>-
[Show Flanks]
- Chromosome:
- 2:70085633
(GRCh38)
2:70312765
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70085631:AAAGA:A
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488581097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:70082494
(GRCh38)
2:70309626
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70082493:T:C
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_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:
18.
rs1488361422 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGTTT>-
[Show Flanks]
- Chromosome:
- 2:70085611
(GRCh38)
2:70312743
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70085607:TTTATGTTT:TTT
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000002.12:g.70085611_70085616del, NC_000002.11:g.70312743_70312748del, NG_029956.1:g.3159_3164del, NM_152792.3:c.-2282_-2277del, NR_170636.1:n.470_475del, NM_001386985.1:c.-2749_-2744del, NR_170638.1:n.154_159del, NM_001386988.1:c.-2543_-2538del, NR_170635.1:n.52_57del, NM_001386984.1:c.-2555_-2550del, NR_170639.1:n.162_167del, NM_001386989.1:c.-2405_-2400del, NR_170637.1:n.184_189del, NM_001386987.1:c.-2370_-2365del, NR_170632.1:n.107_112del, NM_001386981.1:c.-2335_-2330del, NR_170634.1:n.52_57del, NM_001386982.1:c.-2302_-2297del, NR_170631.1:n.107_112del, NM_001386980.1:c.-2185_-2180del, NR_170376.1:n.231_236del, NR_033872.1:n.50_55del, NR_170375.1:n.470_475del
19.
rs1487333522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:70085831
(GRCh38)
2:70312963
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70085830:T:C
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
20.
rs1486900754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:70087608
(GRCh38)
2:70314740
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70087607:G:A
- Gene:
- PCBP1 (Varview), ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS: