Links from Gene
Items: 1 to 20 of 219
1.
rs1490380362 has merged into rs1270356076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 16:14911788
(GRCh38)
16:15005645
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14911787:CCCCCC:CCCCC,NC_000016.10:14911787:CCCCCC:CCCCCCC
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
2.
rs1489287372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:14911634
(GRCh38)
16:15005491
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14911633:C:T
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00219/26
(
ALFA)
C=0./0
(SGDP_PRJ)
T=0.00297/19
(1000Genomes)
T=0.00314/24
(GnomAD)
- HGVS:
3.
rs1486062621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:14910124
(GRCh38)
16:15003981
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14910123:G:A
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000024/3
(GnomAD)
- HGVS:
6.
rs1480473662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:14910099
(GRCh38)
16:15003956
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14910098:G:C
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1480041378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:14909893
(GRCh38)
16:15003750
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14909892:C:A,NC_000016.10:14909892:C:T
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479492609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:14909900
(GRCh38)
16:15003757
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14909899:G:A
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1471263744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:14910467
(GRCh38)
16:15004324
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14910466:G:A
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
A=0.00069/7
(TOMMO)
A=0.00565/10
(KOREAN)
- HGVS:
13.
rs1470139095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:14909874
(GRCh38)
16:15003731
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14909873:C:G,NC_000016.10:14909873:C:T
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00071/2
(KOREAN)
- HGVS:
15.
rs1467457322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:14909867
(GRCh38)
16:15003724
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14909866:C:A,NC_000016.10:14909866:C:T
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000306/5
(
ALFA)
A=0.000111/15
(GnomAD)
- HGVS:
16.
rs1462375788 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGT
[Show Flanks]
- Chromosome:
- 16:14909744
(GRCh38)
16:15003602
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14909744:T:TCTGT
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
TCTG=0.000016/2
(GnomAD)
TCTG=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1461313676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:14909989
(GRCh38)
16:15003846
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14909988:C:G,NC_000016.10:14909988:C:T
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00006/1
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
20.
rs1459972558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:14911596
(GRCh38)
16:15005453
(GRCh37)
- Canonical SPDI:
- NC_000016.10:14911595:G:A,NC_000016.10:14911595:G:T
- Gene:
- MIR3180-1 (Varview), LOC101927469 (Varview), PKD1P3-NPIPA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: