Links from Gene
Items: 1 to 20 of 5544
1.
rs1490780480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:219291431
(GRCh38)
2:220156153
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219291430:G:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- 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:
2.
rs1490767533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:219306781
(GRCh38)
2:220171503
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219306780:T:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490672352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:219298849
(GRCh38)
2:220163571
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219298848:T:C,NC_000002.12:219298848:T:G
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489916736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:219300773
(GRCh38)
2:220165495
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219300772:C:G
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489898539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:219308504
(GRCh38)
2:220173226
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219308503:G:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- 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.
rs1489590523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:219297345
(GRCh38)
2:220162067
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219297344:G:C
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000002.12:g.219297345G>C, NC_000002.11:g.220162067G>C, NG_029546.1:g.17229C>G, NM_002846.4:c.1976C>G, NM_002846.3:c.1976C>G, NM_001199763.2:c.1889C>G, NM_001199763.1:c.1889C>G, NM_001199764.2:c.1706C>G, NM_001199764.1:c.1706C>G, NP_002837.1:p.Ser659Cys, NP_001186692.1:p.Ser630Cys, NP_001186693.1:p.Ser569Cys
8.
rs1489511343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:219305545
(GRCh38)
2:220170267
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219305544:C:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1489405528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:219304573
(GRCh38)
2:220169295
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219304572:C:G
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489399541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:219303224
(GRCh38)
2:220167946
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219303223:G:A,NC_000002.12:219303223:G:T
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489379016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:219309089
(GRCh38)
2:220173811
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219309088:G:T
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD_exomes)
- HGVS:
12.
rs1489375324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:219305648
(GRCh38)
2:220170370
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219305647:A:T
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489319616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:219304931
(GRCh38)
2:220169653
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219304930:C:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
15.
rs1489292111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:219310355
(GRCh38)
2:220175077
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219310354:C:T
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489206571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:219293697
(GRCh38)
2:220158419
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219293696:G:A,NC_000002.12:219293696:G:T
- Gene:
- PTPRN (Varview), MIR153-1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488709822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:219295127
(GRCh38)
2:220159849
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219295126:C:T
- Gene:
- PTPRN (Varview), MIR153-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488659026 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGC>-
[Show Flanks]
- Chromosome:
- 2:219301754
(GRCh38)
2:220166476
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219301753:TGC:
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000029/4
(GnomAD)
- HGVS:
19.
rs1488521134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:219304754
(GRCh38)
2:220169476
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219304753:C:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000036/5
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
20.
rs1488466572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:219308062
(GRCh38)
2:220172784
(GRCh37)
- Canonical SPDI:
- NC_000002.12:219308061:G:A
- Gene:
- PTPRN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: