Links from Nucleotide
Items: 1 to 20 of 165
1.
rs1489913172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:106391205
(GRCh38)
2:107007661
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391204:A:C
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1482619935 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:106386352
(GRCh38)
2:107002809
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106386352:GGGGG:GGGGGG
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1480613099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:106382141
(GRCh38)
2:106998597
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106382140:A:G,NC_000002.12:106382140:A:T
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
5.
rs1469417195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:106390986
(GRCh38)
2:107007442
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106390985:C:G
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
6.
rs1467507721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:106387608
(GRCh38)
2:107004064
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106387607:A:T
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1465442044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:106391231
(GRCh38)
2:107007687
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391230:G:A
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
8.
rs1454907362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:106387575
(GRCh38)
2:107004031
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106387574:A:C,NC_000002.12:106387574:A:G
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000637/11
(TOMMO)
G=0.003765/11
(KOREAN)
- HGVS:
9.
rs1450339251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:106387621
(GRCh38)
2:107004077
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106387620:C:T
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1449745334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:106390955
(GRCh38)
2:107007411
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106390954:G:A
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000064/9
(GnomAD)
A=0.000083/22
(TOPMED)
- HGVS:
11.
rs1447111982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:106391280
(GRCh38)
2:107007736
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391279:T:C
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1441931494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:106391064
(GRCh38)
2:107007520
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391063:T:G
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1439795857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:106387578
(GRCh38)
2:107004034
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106387577:A:G
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
14.
rs1439730242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:106391184
(GRCh38)
2:107007640
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391183:G:C
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.00005/7
(GnomAD)
C=0.000159/42
(TOPMED)
- HGVS:
15.
rs1437085206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:106391198
(GRCh38)
2:107007654
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391197:A:G
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1437022292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:106391132
(GRCh38)
2:107007588
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391131:T:C
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1425042392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:106391091
(GRCh38)
2:107007547
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391090:T:C
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
18.
rs1419784517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:106391247
(GRCh38)
2:107007703
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391246:T:C
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1408609640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:106386408
(GRCh38)
2:107002864
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106386407:A:C,NC_000002.12:106386407:A:G
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1404141644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:106391016
(GRCh38)
2:107007472
(GRCh37)
- Canonical SPDI:
- NC_000002.12:106391015:C:A
- Gene:
- PLGLA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000014/2
(GnomAD)
- HGVS: