Links from Gene
Items: 1 to 20 of 2046
1.
rs1490990753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:55534694
(GRCh38)
5:54830522
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55534693:T:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
NC_000005.10:g.55534694T>C, NC_000005.9:g.54830522T>C, NM_003711.4:c.-65A>G, NM_003711.3:c.-65A>G, XM_006714724.4:c.-102A>G, XM_006714724.3:c.-102A>G, XM_006714724.2:c.-102A>G, XM_006714724.1:c.-102A>G, NM_176895.3:c.-65A>G, NM_176895.2:c.-65A>G, NR_103485.2:n.271A>G, NR_103485.1:n.385A>G
2.
rs1490965048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:55533977
(GRCh38)
5:54829805
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55533976:G:A,NC_000005.10:55533976:G:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
3.
rs1490305944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:55534445
(GRCh38)
5:54830273
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55534444:C:T
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490172387 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:55534420
(GRCh38)
5:54830249
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55534420:GGGG:GGGGG
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490012836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:55534063
(GRCh38)
5:54829891
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55534062:T:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489986891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:55533026
(GRCh38)
5:54828854
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55533025:T:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
7.
rs1489876008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:55533110
(GRCh38)
5:54828938
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55533109:G:A
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
8.
rs1489051465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:55536311
(GRCh38)
5:54832139
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55536310:T:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.00005/7
(GnomAD)
- HGVS:
9.
rs1488519641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:55533493
(GRCh38)
5:54829321
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55533492:T:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
10.
rs1488209347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:55528993
(GRCh38)
5:54824821
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55528992:C:G,NC_000005.10:55528992:C:T
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487960649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:55532532
(GRCh38)
5:54828360
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55532531:A:G
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487535897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:55532720
(GRCh38)
5:54828548
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55532719:A:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486887837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:55530727
(GRCh38)
5:54826555
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55530726:G:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486856693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 5:55528714
(GRCh38)
5:54824542
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55528713:T:C,NC_000005.10:55528713:T:G
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486409259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:55528934
(GRCh38)
5:54824762
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55528933:C:T
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486364253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:55532085
(GRCh38)
5:54827913
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55532084:T:C
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1486152725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:55530729
(GRCh38)
5:54826557
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55530728:G:T
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485640474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAG
[Show Flanks]
- Chromosome:
- 5:55536056
(GRCh38)
5:54831885
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55536056:TGAG:TGAGTGAG
- Gene:
- PLPP1 (Varview), RNF138P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGAGTGAG=0./0
(
ALFA)
TGAG=0.000004/1
(TOPMED)
TGAG=0.000007/1
(GnomAD)
- HGVS: