Links from Gene
Items: 1 to 20 of 3139
1.
rs1491518867 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:64451212
(GRCh38)
3:64436888
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64451211:GA:
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000342/43
(GnomAD)
-=0.000788/22
(TOMMO)
- HGVS:
2.
rs1491402848 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:64453824
(GRCh38)
3:64439500
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64453823:AG:
- Gene:
- PRICKLE2-DT (Varview), LOC105377123 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000003.12:g.64453824_64453825del, NC_000003.11:g.64439500_64439501del, XR_940911.3:n.6686_6687del, XR_940911.2:n.6746_6747del, XR_940911.1:n.3724_3725del, XR_940913.3:n.6614_6615del, XR_940913.2:n.6674_6675del, XR_940913.1:n.3652_3653del, XR_940909.3:n.4866_4867del, XR_940909.2:n.4926_4927del, XR_940909.1:n.4814_4815del, XR_001740731.2:n.5936_5937del, XR_001740731.1:n.5922_5923del, XR_007095944.1:n.6638_6639del, XR_007095945.1:n.6504_6505del, XR_007095943.1:n.1921_1922del
3.
rs1491324857 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:64453824
(GRCh38)
3:64439501
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64453824::T
- Gene:
- PRICKLE2-DT (Varview), LOC105377123 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.64453824_64453825insT, NC_000003.11:g.64439500_64439501insT, XR_940911.3:n.6686_6687insA, XR_940911.2:n.6746_6747insA, XR_940911.1:n.3724_3725insA, XR_940913.3:n.6614_6615insA, XR_940913.2:n.6674_6675insA, XR_940913.1:n.3652_3653insA, XR_940909.3:n.4866_4867insA, XR_940909.2:n.4926_4927insA, XR_940909.1:n.4814_4815insA, XR_001740731.2:n.5936_5937insA, XR_001740731.1:n.5922_5923insA, XR_007095944.1:n.6638_6639insA, XR_007095945.1:n.6504_6505insA, XR_007095943.1:n.1921_1922insA
4.
rs1490809332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:64449996
(GRCh38)
3:64435672
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64449995:T:C
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490768085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:64444998
(GRCh38)
3:64430674
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64444997:A:G
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490711594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:64449741
(GRCh38)
3:64435417
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64449740:A:G
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490570211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:64445975
(GRCh38)
3:64431652
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64445975:TTTT:TTTTT
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490473090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:64451594
(GRCh38)
3:64437270
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64451593:T:G
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490319253 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTGT>-
[Show Flanks]
- Chromosome:
- 3:64448956
(GRCh38)
3:64434632
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64448954:TTTTTGT:T
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000506/6
(
ALFA)
-=0.000449/50
(GnomAD)
-=0.00177/30
(TOMMO)
- HGVS:
10.
rs1489961196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:64452076
(GRCh38)
3:64437752
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64452075:C:T
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000086/12
(GnomAD)
T=0.000189/50
(TOPMED)
- HGVS:
11.
rs1489337889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:64452818
(GRCh38)
3:64438494
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64452817:G:A
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489306799 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 3:64455489
(GRCh38)
3:64441165
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64455488:AAAAAA:AAAAA
- Gene:
- PRICKLE2-DT (Varview), LOC105377123 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0.000071/1
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
13.
rs1489278287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:64447852
(GRCh38)
3:64433528
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64447851:T:C
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488980963 has merged into rs750030369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACA>-,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 3:64451236
(GRCh38)
3:64436912
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:64451228:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.64451230CA[3], NC_000003.12:g.64451230CA[8], NC_000003.12:g.64451230CA[9], NC_000003.12:g.64451230CA[10], NC_000003.12:g.64451230CA[11], NC_000003.12:g.64451230CA[12], NC_000003.12:g.64451230CA[13], NC_000003.12:g.64451230CA[14], NC_000003.12:g.64451230CA[16], NC_000003.12:g.64451230CA[17], NC_000003.12:g.64451230CA[18], NC_000003.12:g.64451230CA[19], NC_000003.12:g.64451230CA[20], NC_000003.12:g.64451230CA[21], NC_000003.11:g.64436906CA[3], NC_000003.11:g.64436906CA[8], NC_000003.11:g.64436906CA[9], NC_000003.11:g.64436906CA[10], NC_000003.11:g.64436906CA[11], NC_000003.11:g.64436906CA[12], NC_000003.11:g.64436906CA[13], NC_000003.11:g.64436906CA[14], NC_000003.11:g.64436906CA[16], NC_000003.11:g.64436906CA[17], NC_000003.11:g.64436906CA[18], NC_000003.11:g.64436906CA[19], NC_000003.11:g.64436906CA[20], NC_000003.11:g.64436906CA[21]
15.
rs1488974449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:64446171
(GRCh38)
3:64431847
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64446170:A:G
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488894399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:64455722
(GRCh38)
3:64441398
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64455721:C:G,NC_000003.12:64455721:C:T
- Gene:
- PRICKLE2-DT (Varview), LOC105377123 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
17.
rs1488763973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:64455055
(GRCh38)
3:64440731
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64455054:C:G
- Gene:
- PRICKLE2-DT (Varview), LOC105377123 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_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:
NC_000003.12:g.64455055C>G, NC_000003.11:g.64440731C>G, XR_245234.4:n.611C>G, XR_245234.3:n.634C>G, XR_245234.2:n.601C>G, XR_940916.2:n.731C>G, XR_940916.1:n.721C>G, XR_940914.2:n.709C>G, XR_940914.1:n.788C>G, XR_940915.2:n.681C>G, XR_940915.1:n.671C>G
18.
rs1488618429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:64444228
(GRCh38)
3:64429904
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64444227:T:C,NC_000003.12:64444227:T:G
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000389/7
(TOMMO)
- HGVS:
20.
rs1488279654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:64450977
(GRCh38)
3:64436653
(GRCh37)
- Canonical SPDI:
- NC_000003.12:64450976:G:C
- Gene:
- PRICKLE2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: