Links from Nucleotide
Items: 1 to 20 of 484
1.
rs1489756803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:18536768
(GRCh38)
22:20386635
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18536767:G:A,NC_000022.11:18536767:G:T
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
3.
rs1486552406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:18548046
(GRCh38)
22:20397913
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18548045:G:A
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00002/1
(GnomAD)
- HGVS:
4.
rs1486223931 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 22:18547285
(GRCh38)
22:20397152
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18547284:C:
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
5.
rs1485077846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:18537308
(GRCh38)
22:20387175
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18537307:G:A,NC_000022.11:18537307:G:T
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.5/1
(SGDP_PRJ)
- HGVS:
6.
rs1482375598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:18533935
(GRCh38)
22:20383802
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18533934:G:A
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00005/3
(GnomAD)
- HGVS:
7.
rs1481143599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:18538542
(GRCh38)
22:20388409
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18538541:C:T
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00012/7
(GnomAD)
- HGVS:
8.
rs1480361652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:18537153
(GRCh38)
22:20387020
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18537152:C:T
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1478012370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:18540602
(GRCh38)
22:20390469
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18540601:G:A
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00002/1
(GnomAD)
- HGVS:
13.
rs1476671058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 22:18540424
(GRCh38)
22:20390291
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18540423:T:C,NC_000022.11:18540423:T:G
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
- HGVS:
15.
rs1476061497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:18537306
(GRCh38)
22:20387173
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18537305:T:C
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00008/7
(GnomAD)
- HGVS:
18.
rs1473122919 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:18536874
(GRCh38)
22:20386742
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18536874:TTTT:TTTTT
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1473019251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:18537084
(GRCh38)
22:20386951
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18537083:G:A
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1472181745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:18543678
(GRCh38)
22:20393545
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18543677:G:A,NC_000022.11:18543677:G:T
- Gene:
- PI4KAP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00006/1
(TOMMO)
A=0.00056/1
(Korea1K)
- HGVS: