Links from Gene
Items: 1 to 20 of 10788
2.
rs1491332082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:97717947
(GRCh38)
12:98111725
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97717945:TAT:T
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000169/2
(
ALFA)
-=0.000125/17
(GnomAD)
- HGVS:
3.
rs1491326472 has merged into rs201784015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 12:97730752
(GRCh38)
12:98124530
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97730742:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:97730742:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:97730742:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:97730742:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000012.12:g.97730752_97730753del, NC_000012.12:g.97730753del, NC_000012.12:g.97730753dup, NC_000012.12:g.97730752_97730753dup, NC_000012.11:g.98124530_98124531del, NC_000012.11:g.98124531del, NC_000012.11:g.98124531dup, NC_000012.11:g.98124530_98124531dup, NR_077240.1:n.2249_2250del, NR_077240.1:n.2250del, NR_077240.1:n.2250dup, NR_077240.1:n.2249_2250dup
4.
rs1490948533 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:97745307
(GRCh38)
12:98139086
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97745307:CCC:CCCC
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490812973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:97745489
(GRCh38)
12:98139267
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97745488:T:G
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490801191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:97752933
(GRCh38)
12:98146711
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97752932:G:A,NC_000012.12:97752932:G:C
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490766657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:97748185
(GRCh38)
12:98141963
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97748184:T:C
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
9.
rs1490763027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:97737089
(GRCh38)
12:98130867
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97737088:T:A
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490676780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:97720040
(GRCh38)
12:98113818
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97720039:G:A
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490518928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:97717582
(GRCh38)
12:98111360
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97717581:T:A,NC_000012.12:97717581:T:C
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000066/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490458102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:97728931
(GRCh38)
12:98122709
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97728930:A:C
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000108/15
(GnomAD)
A=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1490427695 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:97730239
(GRCh38)
12:98124017
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97730238:A:
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
14.
rs1490311763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:97753441
(GRCh38)
12:98147219
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97753440:T:C
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
15.
rs1490307308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:97724622
(GRCh38)
12:98118400
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97724621:A:T
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490220918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GACA
[Show Flanks]
- Chromosome:
- 12:97720631
(GRCh38)
12:98114410
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97720631:AGACA:AGACAGACA
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGACAGACA=0.000084/1
(
ALFA)
AGAC=0.000007/1
(GnomAD)
AGAC=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490220174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:97755681
(GRCh38)
12:98149459
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97755680:C:A
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- genic_upstream_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:
18.
rs1490195131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:97718897
(GRCh38)
12:98112675
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97718896:C:G
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000022/3
(GnomAD)
- HGVS:
19.
rs1490194899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:97754541
(GRCh38)
12:98148319
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97754540:GG:G
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490184345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:97720216
(GRCh38)
12:98113994
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97720215:A:G
- Gene:
- PAFAH1B2P2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: