Links from Nucleotide
Items: 1 to 20 of 632
2.
rs1491333666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- 18:26167863
(GRCh38)
18:23747828
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26167863:A:AA,NC_000018.10:26167863:A:AAA
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
AA=0.00044/7
(TOMMO)
AA=0.00174/1
(NorthernSweden)
AA=0.00241/4
(Korea1K)
- HGVS:
4.
rs1490638989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-
[Show Flanks]
- Chromosome:
- 18:26171052
(GRCh38)
18:23751016
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26171050:TCTCT:T
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
5.
rs1488938578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:26169112
(GRCh38)
18:23749076
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26169111:G:C
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488153385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:26169289
(GRCh38)
18:23749253
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26169288:C:G
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000016/2
(GnomAD)
- HGVS:
7.
rs1487865428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 18:26168502
(GRCh38)
18:23748466
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26168501:T:G
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000035/4
(GnomAD)
- HGVS:
8.
rs1486619460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 18:26169587
(GRCh38)
18:23749551
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26169586:C:A,NC_000018.10:26169586:C:T
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000025/3
(GnomAD)
T=0.000745/2
(KOREAN)
- HGVS:
12.
rs1485313744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:26170894
(GRCh38)
18:23750858
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26170893:A:G
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000034/4
(GnomAD)
- HGVS:
14.
rs1483348155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:26168475
(GRCh38)
18:23748439
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26168474:A:C
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00058/1
(Korea1K)
C=0.06709/181
(KOREAN)
- HGVS:
15.
rs1483121713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:26169624
(GRCh38)
18:23749588
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26169623:G:A
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1482367658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 18:26169000
(GRCh38)
18:23748964
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26168999:C:G,NC_000018.10:26168999:C:T
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000051/6
(GnomAD)
T=0.000625/4
(1000Genomes)
- HGVS:
17.
rs1482142167 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 18:26170186
(GRCh38)
18:23750150
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26170185:T:
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000009/1
(GnomAD)
- HGVS:
18.
rs1482006990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:26169698
(GRCh38)
18:23749662
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26169697:T:C
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000142/2
(
ALFA)
C=0.000034/4
(GnomAD)
- HGVS:
19.
rs1481128920 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 18:26168066
(GRCh38)
18:23748030
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26168065:TTTTTTTTT:TTTTTTTT,NC_000018.10:26168065:TTTTTTTTT:TTTTTTTTTT
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.00019/3
(TOMMO)
-=0.00078/5
(1000Genomes)
- HGVS:
20.
rs1481087742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 18:26167858
(GRCh38)
18:23747822
(GRCh37)
- Canonical SPDI:
- NC_000018.10:26167857:T:A,NC_000018.10:26167857:T:C
- Gene:
- PSMA8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000364/30
(GnomAD)
A=0.000849/13
(TOMMO)
A=0.001736/1
(NorthernSweden)
A=0.004843/8
(Korea1K)
- HGVS: