Links from Nucleotide
Items: 1 to 20 of 355
1.
rs1489657321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63118489
(GRCh38)
2:63345624
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118488:T:C
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
2.
rs1487319178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63118048
(GRCh38)
2:63345183
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118047:T:C
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1483618774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:63118807
(GRCh38)
2:63345942
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118806:C:G
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1482353608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63119033
(GRCh38)
2:63346168
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63119032:T:C
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1480448942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:63118704
(GRCh38)
2:63345839
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118703:A:G
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000043/6
(GnomAD)
G=0.00006/16
(TOPMED)
- HGVS:
7.
rs1473166265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:63118520
(GRCh38)
2:63345655
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118519:C:G
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1472343137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63118592
(GRCh38)
2:63345727
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118591:T:C
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1472294031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:63118828
(GRCh38)
2:63345963
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118827:G:T
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_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:
11.
rs1463861804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:63119186
(GRCh38)
2:63346321
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63119185:G:T
- Gene:
- WDPCP (Varview), DBIL5P2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1463819575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63118158
(GRCh38)
2:63345293
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118157:T:C
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1463240768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:63118298
(GRCh38)
2:63345433
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118297:A:G
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
14.
rs1462640521 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:63119362
(GRCh38)
2:63346498
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63119362:G:GG
- Gene:
- WDPCP (Varview), DBIL5P2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1458689002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:63119059
(GRCh38)
2:63346194
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63119058:A:C
- Gene:
- WDPCP (Varview), DBIL5P2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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:
16.
rs1453264274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:63118897
(GRCh38)
2:63346032
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118896:C:G
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1447928716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:63118388
(GRCh38)
2:63345523
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118387:G:A
- Gene:
- DBIL5P2 (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)
- HGVS:
19.
rs1446182941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:63118339
(GRCh38)
2:63345474
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63118338:C:G
- Gene:
- DBIL5P2 (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:
20.
rs1445565975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:63117904
(GRCh38)
2:63345039
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63117903:C:T
- Gene:
- DBIL5P2 (Varview)
- Functional Consequence:
- non_coding_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: