Links from Nucleotide
Items: 1 to 20 of 269
1.
rs1489682417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:33210294
(GRCh38)
20:31798100
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33210293:C:A,NC_000020.11:33210293:C:T
- Gene:
- BPIFA4P (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=0.000014/2
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
3.
rs1485671799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:33199364
(GRCh38)
20:31787170
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33199363:A:C
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
4.
rs1478543535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:33205859
(GRCh38)
20:31793665
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33205858:C:G
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1477999379 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCCTCTGCACA>-
[Show Flanks]
- Chromosome:
- 20:33198263
(GRCh38)
20:31786069
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33198260:CATCCTCTGCACA:CA
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
7.
rs1471559948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:33210439
(GRCh38)
20:31798245
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33210438:G:A
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1470653615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 20:33205144
(GRCh38)
20:31792950
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33205143:G:A,NC_000020.11:33205143:G:C
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1466943321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:33201596
(GRCh38)
20:31789402
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33201595:G:A,NC_000020.11:33201595:G:T
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
10.
rs1464669078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:33202577
(GRCh38)
20:31790383
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33202576:A:G
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1463622910 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:33207738
(GRCh38)
20:31795544
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33207737:C:
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1462125147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:33207764
(GRCh38)
20:31795570
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33207763:A:C
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- 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:
13.
rs1461709265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:33198243
(GRCh38)
20:31786049
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33198242:T:C
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1459228293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:33202528
(GRCh38)
20:31790334
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33202527:C:A
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1458595112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:33210177
(GRCh38)
20:31797983
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33210176:C:T
- Gene:
- BPIFA4P (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:
16.
rs1456776213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:33210161
(GRCh38)
20:31797967
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33210160:A:G
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
G=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1453854392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:33205126
(GRCh38)
20:31792932
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33205125:C:A,NC_000020.11:33205125:C:T
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000142/2
(TOMMO)
- HGVS:
18.
rs1452880700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:33210317
(GRCh38)
20:31798123
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33210316:G:A,NC_000020.11:33210316:G:T
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1451884582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 20:33207723
(GRCh38)
20:31795529
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33207722:G:A,NC_000020.11:33207722:G:C
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
20.
rs1448320718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:33210307
(GRCh38)
20:31798113
(GRCh37)
- Canonical SPDI:
- NC_000020.11:33210306:G:C
- Gene:
- BPIFA4P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: