Links from Gene
Items: 1 to 20 of 21861
1.
rs1491450142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:94183977
(GRCh38)
14:94650315
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94183977:T:TT
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491275067 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:94174985
(GRCh38)
14:94641322
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94174984:CA:
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/8
(GnomAD)
- HGVS:
3.
rs1491195202 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CCA,T
[Show Flanks]
- Chromosome:
- 14:94174985
(GRCh38)
14:94641323
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94174985::CCA,NC_000014.9:94174985::T
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491077169 has merged into rs370068876 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:94239207
(GRCh38)
14:94705544
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:94239196:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.06224/269
(1000Genomes)
T=0.125/5
(GENOME_DK)
- HGVS:
NC_000014.9:g.94239207_94239208del, NC_000014.9:g.94239208del, NC_000014.9:g.94239208dup, NC_000014.9:g.94239207_94239208dup, NC_000014.9:g.94239206_94239208dup, NC_000014.9:g.94239203_94239208dup, NC_000014.9:g.94239208_94239209insTTTTTTTTTTTTTTT, NT_187601.1:g.1353769_1353770del, NT_187601.1:g.1353770del, NT_187601.1:g.1353770dup, NT_187601.1:g.1353769_1353770dup, NT_187601.1:g.1353768_1353770dup, NT_187601.1:g.1353765_1353770dup, NT_187601.1:g.1353770_1353771insTTTTTTTTTTTTTTT, NC_000014.8:g.94705544_94705545del, NC_000014.8:g.94705545del, NC_000014.8:g.94705545dup, NC_000014.8:g.94705544_94705545dup, NC_000014.8:g.94705543_94705545dup, NC_000014.8:g.94705540_94705545dup, NC_000014.8:g.94705545_94705546insTTTTTTTTTTTTTTT
6.
rs1491052222 has merged into rs57997995 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 14:94257659
(GRCh38)
14:94723996
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:94257642:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.94257643AC[8], NC_000014.9:g.94257643AC[9], NC_000014.9:g.94257643AC[11], NC_000014.9:g.94257643AC[12], NC_000014.9:g.94257643AC[13], NC_000014.9:g.94257643AC[14], NC_000014.9:g.94257643AC[15], NC_000014.9:g.94257643AC[16], NC_000014.9:g.94257643AC[18], NC_000014.9:g.94257643AC[19], NC_000014.9:g.94257643AC[20], NC_000014.9:g.94257643AC[21], NC_000014.9:g.94257643AC[22], NC_000014.9:g.94257643AC[23], NC_000014.9:g.94257643AC[24], NC_000014.9:g.94257643AC[25], NC_000014.9:g.94257643AC[26], NC_000014.9:g.94257643AC[27], NC_000014.9:g.94257643AC[28], NC_000014.9:g.94257643AC[29], NC_000014.9:g.94257643AC[30], NC_000014.9:g.94257643AC[31], NC_000014.9:g.94257643AC[32], NC_000014.9:g.94257643AC[33], NT_187601.1:g.1372205AC[8], NT_187601.1:g.1372205AC[9], NT_187601.1:g.1372205AC[11], NT_187601.1:g.1372205AC[12], NT_187601.1:g.1372205AC[13], NT_187601.1:g.1372205AC[14], NT_187601.1:g.1372205AC[15], NT_187601.1:g.1372205AC[16], NT_187601.1:g.1372205AC[18], NT_187601.1:g.1372205AC[19], NT_187601.1:g.1372205AC[20], NT_187601.1:g.1372205AC[21], NT_187601.1:g.1372205AC[22], NT_187601.1:g.1372205AC[23], NT_187601.1:g.1372205AC[24], NT_187601.1:g.1372205AC[25], NT_187601.1:g.1372205AC[26], NT_187601.1:g.1372205AC[27], NT_187601.1:g.1372205AC[28], NT_187601.1:g.1372205AC[29], NT_187601.1:g.1372205AC[30], NT_187601.1:g.1372205AC[31], NT_187601.1:g.1372205AC[32], NT_187601.1:g.1372205AC[33], NC_000014.8:g.94723980AC[8], NC_000014.8:g.94723980AC[9], NC_000014.8:g.94723980AC[11], NC_000014.8:g.94723980AC[12], NC_000014.8:g.94723980AC[13], NC_000014.8:g.94723980AC[14], NC_000014.8:g.94723980AC[15], NC_000014.8:g.94723980AC[16], NC_000014.8:g.94723980AC[18], NC_000014.8:g.94723980AC[19], NC_000014.8:g.94723980AC[20], NC_000014.8:g.94723980AC[21], NC_000014.8:g.94723980AC[22], NC_000014.8:g.94723980AC[23], NC_000014.8:g.94723980AC[24], NC_000014.8:g.94723980AC[25], NC_000014.8:g.94723980AC[26], NC_000014.8:g.94723980AC[27], NC_000014.8:g.94723980AC[28], NC_000014.8:g.94723980AC[29], NC_000014.8:g.94723980AC[30], NC_000014.8:g.94723980AC[31], NC_000014.8:g.94723980AC[32], NC_000014.8:g.94723980AC[33]
7.
rs1490992484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAGA
[Show Flanks]
- Chromosome:
- 14:94251775
(GRCh38)
14:94718113
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94251775:ATAGA:ATAGATAGA
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAGATAGA=0./0
(
ALFA)
ATAG=0.000007/1
(GnomAD)
ATAG=0.000008/2
(TOPMED)
- HGVS:
NC_000014.9:g.94251777_94251780dup, NT_187601.1:g.1366339_1366342dup, NC_000014.8:g.94718114_94718117dup, XM_011537039.3:c.1425_1428dup, XM_011537039.2:c.1425_1428dup, XM_011537039.1:c.1425_1428dup, XM_017021528.3:c.1485_1488dup, XM_017021528.2:c.1485_1488dup, XM_017021528.1:c.1485_1488dup, XM_011537040.3:c.1425_1428dup, XM_011537040.2:c.1425_1428dup, XM_011537040.1:c.1425_1428dup, NM_001348143.2:c.1425_1428dup, NM_001348143.1:c.1425_1428dup, NM_001348144.2:c.1425_1428dup, NM_001348144.1:c.1425_1428dup, NR_145441.2:n.1890_1893dup, NR_145441.1:n.1900_1903dup, NM_001348142.2:c.1503_1506dup, NM_001348142.1:c.1503_1506dup, NM_058237.2:c.1746_1749dup, NM_058237.1:c.1746_1749dup, XM_024449672.2:c.1503_1506dup, XM_024449672.1:c.1503_1506dup, XM_024449673.2:c.1425_1428dup, XM_024449673.1:c.1425_1428dup, XP_011535341.1:p.Leu477Ter, XP_016877017.1:p.Leu497Ter, XP_011535342.1:p.Leu477Ter, NP_001335072.1:p.Leu477Ter, NP_001335073.1:p.Leu477Ter, NP_001335071.1:p.Leu503Ter, NP_478144.1:p.Leu584Ter, XP_024305440.1:p.Leu503Ter, XP_024305441.1:p.Leu477Ter
8.
rs1490973378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:94185297
(GRCh38)
14:94651634
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94185296:G:A
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490971186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:94267057
(GRCh38)
14:94733394
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94267056:A:T
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
10.
rs1490945736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:94224127
(GRCh38)
14:94690464
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94224126:G:A,NC_000014.9:94224126:G:T
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490942265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:94250476
(GRCh38)
14:94716813
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94250475:T:C
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490896803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:94251876
(GRCh38)
14:94718213
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94251875:T:G
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.94251876T>G, NT_187601.1:g.1366438T>G, NC_000014.8:g.94718213T>G, XM_011537039.3:c.1524T>G, XM_011537039.2:c.1524T>G, XM_011537039.1:c.1524T>G, XM_017021528.3:c.1584T>G, XM_017021528.2:c.1584T>G, XM_017021528.1:c.1584T>G, XM_011537040.3:c.1524T>G, XM_011537040.2:c.1524T>G, XM_011537040.1:c.1524T>G, NM_001348143.2:c.1524T>G, NM_001348143.1:c.1524T>G, NM_001348144.2:c.1524T>G, NM_001348144.1:c.1524T>G, NR_145441.2:n.1989T>G, NR_145441.1:n.1999T>G, NM_001348142.2:c.1602T>G, NM_001348142.1:c.1602T>G, NM_058237.2:c.1845T>G, NM_058237.1:c.1845T>G, XM_024449672.2:c.1602T>G, XM_024449672.1:c.1602T>G, XM_024449673.2:c.1524T>G, XM_024449673.1:c.1524T>G, XP_011535341.1:p.His508Gln, XP_016877017.1:p.His528Gln, XP_011535342.1:p.His508Gln, NP_001335072.1:p.His508Gln, NP_001335073.1:p.His508Gln, NP_001335071.1:p.His534Gln, NP_478144.1:p.His615Gln, XP_024305440.1:p.His534Gln, XP_024305441.1:p.His508Gln
13.
rs1490878709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:94172999
(GRCh38)
14:94639336
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94172998:A:G
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490858152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 14:94217369
(GRCh38)
14:94683706
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94217368:A:C,NC_000014.9:94217368:A:T
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00004/1
(TOMMO)
- HGVS:
15.
rs1490855288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:94188489
(GRCh38)
14:94654826
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94188488:A:G
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490757204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:94197471
(GRCh38)
14:94663808
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94197470:T:A
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490692598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:94266829
(GRCh38)
14:94733166
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94266828:A:C
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490674889 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 14:94277776
(GRCh38)
14:94744113
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94277775:T:
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490577230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:94197962
(GRCh38)
14:94664299
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94197961:A:T
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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.
rs1490559609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:94262838
(GRCh38)
14:94729175
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94262837:A:G
- Gene:
- PPP4R4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS: