Links from Gene
Items: 1 to 20 of 1000
1.
rs1491349178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGCGACTCAGGTGGCGG
[Show Flanks]
- Chromosome:
- 7:29685472
(GRCh38)
7:29725089
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685472:GGGGCGACTCAGGTGGCGG:GGGGCGACTCAGGTGGCGGGGCGACTCAGGTGGCGG
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGCGACTCAGGTGGCGGGGCGACTCAGGTGGCGG=0./0
(
ALFA)
GGGGCGACTCAGGTGGC=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491300580 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:29685472
(GRCh38)
7:29725088
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685471:AG:
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490973094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:29686900
(GRCh38)
7:29726516
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29686899:T:C
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490757692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 7:29685412
(GRCh38)
7:29725028
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685411:G:A,NC_000007.14:29685411:G:C,NC_000007.14:29685411:G:T
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.29685412G>A, NC_000007.14:g.29685412G>C, NC_000007.14:g.29685412G>T, NC_000007.13:g.29725028G>A, NC_000007.13:g.29725028G>C, NC_000007.13:g.29725028G>T, NR_158194.1:n.259G>A, NR_158194.1:n.259G>C, NR_158194.1:n.259G>T, NR_036482.1:n.259G>A, NR_036482.1:n.259G>C, NR_036482.1:n.259G>T, NR_027347.1:n.410C>T, NR_027347.1:n.410C>G, NR_027347.1:n.410C>A
5.
rs1490154449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:29687850
(GRCh38)
7:29727466
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29687849:G:A
- Gene:
- DPY19L2P3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489412796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:29685627
(GRCh38)
7:29725243
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685626:C:T
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489315448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:29686466
(GRCh38)
7:29726082
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29686465:G:A
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
9.
rs1488903308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:29684715
(GRCh38)
7:29724331
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29684714:A:T
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1488344683 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 7:29685074
(GRCh38)
7:29724690
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685073:CCCCC:CCCC
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
11.
rs1488294728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:29685619
(GRCh38)
7:29725235
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685618:C:T
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1487795437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:29688434
(GRCh38)
7:29728050
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29688433:G:A
- Gene:
- DPY19L2P3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
13.
rs1487393423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:29685146
(GRCh38)
7:29724762
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29685145:G:A,NC_000007.14:29685145:G:C
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487062738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:29684623
(GRCh38)
7:29724239
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29684622:C:T
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486135886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:29686368
(GRCh38)
7:29725984
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29686367:C:G,NC_000007.14:29686367:C:T
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486042875 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:29687208
(GRCh38)
7:29726824
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29687207:TTTT:TTT
- Gene:
- DPY19L2P3 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485338172 has merged into rs33966783 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:29686314
(GRCh38)
7:29725930
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3207/1606
(1000Genomes)
- HGVS:
NC_000007.14:g.29686314_29686318del, NC_000007.14:g.29686315_29686318del, NC_000007.14:g.29686316_29686318del, NC_000007.14:g.29686317_29686318del, NC_000007.14:g.29686318del, NC_000007.14:g.29686318dup, NC_000007.14:g.29686317_29686318dup, NC_000007.14:g.29686316_29686318dup, NC_000007.14:g.29686310_29686318dup, NC_000007.13:g.29725930_29725934del, NC_000007.13:g.29725931_29725934del, NC_000007.13:g.29725932_29725934del, NC_000007.13:g.29725933_29725934del, NC_000007.13:g.29725934del, NC_000007.13:g.29725934dup, NC_000007.13:g.29725933_29725934dup, NC_000007.13:g.29725932_29725934dup, NC_000007.13:g.29725926_29725934dup
19.
rs1483426186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:29683184
(GRCh38)
7:29722800
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29683183:T:C
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1483218907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:29683990
(GRCh38)
7:29723606
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29683989:G:A
- Gene:
- DPY19L2P3 (Varview), LOC646762 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: