Links from Nucleotide
Items: 1 to 20 of 187
1.
rs1485541377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:94096828
(GRCh38)
10:95856585
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94096827:C:A,NC_000010.11:94096827:C:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1483453605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:94108739
(GRCh38)
10:95868496
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94108738:C:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview), LOC107984255 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000684/2
(KOREAN)
- HGVS:
4.
rs1472326016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 10:94104450
(GRCh38)
10:95864207
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94104449:C:G,NC_000010.11:94104449:C:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
5.
rs1470770395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:94094687
(GRCh38)
10:95854444
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94094686:T:A
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
6.
rs1466719157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:94104434
(GRCh38)
10:95864191
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94104433:C:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1465828057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:94082065
(GRCh38)
10:95841822
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94082064:T:C
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_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:
8.
rs1461045411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:94088194
(GRCh38)
10:95847951
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94088193:A:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1458981945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 10:94108728
(GRCh38)
10:95868485
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94108727:G:A,NC_000010.11:94108727:G:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview), LOC107984255 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,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:
NC_000010.11:g.94108728G>A, NC_000010.11:g.94108728G>T, NC_000010.10:g.95868485G>A, NC_000010.10:g.95868485G>T, NG_015799.1:g.119740G>A, NG_015799.1:g.119740G>T, XR_001747554.3:n.1750G>A, XR_001747554.3:n.1750G>T, NR_120615.1:n.67C>T, NR_120615.1:n.67C>A, NR_120616.1:n.67C>T, NR_120616.1:n.67C>A
10.
rs1456200070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:94082158
(GRCh38)
10:95841915
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94082157:T:C
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1454994464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:94082206
(GRCh38)
10:95841963
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94082205:C:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
12.
rs1451564761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:94082199
(GRCh38)
10:95841956
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94082198:A:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
13.
rs1446831942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:94082151
(GRCh38)
10:95841908
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94082150:G:A
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1446301268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 10:94082136
(GRCh38)
10:95841893
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94082135:A:G,NC_000010.11:94082135:A:T
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000142/2
(TOMMO)
- HGVS:
15.
rs1434416963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:94096429
(GRCh38)
10:95856186
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94096428:G:A
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1431484648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:94107780
(GRCh38)
10:95867537
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94107779:G:A,NC_000010.11:94107779:G:C
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview), LOC107984255 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1431327757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:94104383
(GRCh38)
10:95864140
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94104382:T:C
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1428968911 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTT>-
[Show Flanks]
- Chromosome:
- 10:94081972
(GRCh38)
10:95841729
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94081968:TTTGTTT:TTT
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1425488668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:94081970
(GRCh38)
10:95841727
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94081969:T:C
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1415710340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:94096874
(GRCh38)
10:95856631
(GRCh37)
- Canonical SPDI:
- NC_000010.11:94096873:G:A
- Gene:
- PLCE1 (Varview), PLCE1-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: