Links from Gene
Items: 1 to 20 of 1289
1.
rs1491491726 has merged into rs11302693 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:23488490
(GRCh38)
7:23528109
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4069/236
(NorthernSweden)
A=0.5/20
(GENOME_DK)
- HGVS:
NC_000007.14:g.23488490_23488496del, NC_000007.14:g.23488492_23488496del, NC_000007.14:g.23488493_23488496del, NC_000007.14:g.23488494_23488496del, NC_000007.14:g.23488495_23488496del, NC_000007.14:g.23488496del, NC_000007.14:g.23488496dup, NC_000007.14:g.23488495_23488496dup, NC_000007.14:g.23488494_23488496dup, NC_000007.14:g.23488493_23488496dup, NC_000007.14:g.23488492_23488496dup, NC_000007.14:g.23488491_23488496dup, NC_000007.14:g.23488490_23488496dup, NC_000007.13:g.23528109_23528115del, NC_000007.13:g.23528111_23528115del, NC_000007.13:g.23528112_23528115del, NC_000007.13:g.23528113_23528115del, NC_000007.13:g.23528114_23528115del, NC_000007.13:g.23528115del, NC_000007.13:g.23528115dup, NC_000007.13:g.23528114_23528115dup, NC_000007.13:g.23528113_23528115dup, NC_000007.13:g.23528112_23528115dup, NC_000007.13:g.23528111_23528115dup, NC_000007.13:g.23528110_23528115dup, NC_000007.13:g.23528109_23528115dup
3.
rs1490187799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:23489824
(GRCh38)
7:23529443
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23489823:C:T
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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.
rs1490160238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:23489196
(GRCh38)
7:23528815
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23489195:T:G
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489417730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:23491229
(GRCh38)
7:23530848
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23491228:T:G
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488995877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:23490422
(GRCh38)
7:23530041
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23490421:C:T
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00008/1
(GnomAD_exomes)
- HGVS:
7.
rs1488960219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:23490186
(GRCh38)
7:23529805
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23490185:G:C
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1488892216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 7:23489567
(GRCh38)
7:23529186
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23489566:C:A,NC_000007.14:23489566:C:G
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
9.
rs1488764200 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGCTGGCTGTGTTGCCCAGGCTGG>-
[Show Flanks]
- Chromosome:
- 7:23490082
(GRCh38)
7:23529701
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23490079:GGGGCTGGCTGTGTTGCCCAGGCTGG:GG
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
10.
rs1488493688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:23490927
(GRCh38)
7:23530546
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23490926:C:A
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487328261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 7:23490451
(GRCh38)
7:23530070
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23490450:C:A,NC_000007.14:23490450:C:G,NC_000007.14:23490450:C:T
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.00008/1
(GnomAD_exomes)
T=0.00041/4
(GnomAD)
- HGVS:
13.
rs1486664437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:23490974
(GRCh38)
7:23530593
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23490973:G:A
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1485494669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:23491786
(GRCh38)
7:23531405
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23491785:C:T
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1485033224 has merged into rs201806846 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:23491422
(GRCh38)
7:23531041
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.23491422_23491428del, NC_000007.14:g.23491423_23491428del, NC_000007.14:g.23491424_23491428del, NC_000007.14:g.23491425_23491428del, NC_000007.14:g.23491426_23491428del, NC_000007.14:g.23491427_23491428del, NC_000007.14:g.23491428del, NC_000007.14:g.23491428dup, NC_000007.14:g.23491427_23491428dup, NC_000007.14:g.23491426_23491428dup, NC_000007.14:g.23491425_23491428dup, NC_000007.14:g.23491424_23491428dup, NC_000007.14:g.23491423_23491428dup, NC_000007.14:g.23491420_23491428dup, NC_000007.14:g.23491417_23491428dup, NC_000007.13:g.23531041_23531047del, NC_000007.13:g.23531042_23531047del, NC_000007.13:g.23531043_23531047del, NC_000007.13:g.23531044_23531047del, NC_000007.13:g.23531045_23531047del, NC_000007.13:g.23531046_23531047del, NC_000007.13:g.23531047del, NC_000007.13:g.23531047dup, NC_000007.13:g.23531046_23531047dup, NC_000007.13:g.23531045_23531047dup, NC_000007.13:g.23531044_23531047dup, NC_000007.13:g.23531043_23531047dup, NC_000007.13:g.23531042_23531047dup, NC_000007.13:g.23531039_23531047dup, NC_000007.13:g.23531036_23531047dup, NR_026676.1:n.1035_1041del, NR_026676.1:n.1036_1041del, NR_026676.1:n.1037_1041del, NR_026676.1:n.1038_1041del, NR_026676.1:n.1039_1041del, NR_026676.1:n.1040_1041del, NR_026676.1:n.1041del, NR_026676.1:n.1041dup, NR_026676.1:n.1040_1041dup, NR_026676.1:n.1039_1041dup, NR_026676.1:n.1038_1041dup, NR_026676.1:n.1037_1041dup, NR_026676.1:n.1036_1041dup, NR_026676.1:n.1033_1041dup, NR_026676.1:n.1030_1041dup
16.
rs1484786750 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATACCTATAATACGTATATACGTATACGTATATACGTAT>-,ATACCTATAATACGTATATACGTATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT
[Show Flanks]
- Chromosome:
- 7:23488920
(GRCh38)
7:23528539
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23488903:ATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT:ATACGTATATACGTAT,NC_000007.14:23488903:ATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT:ATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATACGTATATACGTAT=0./0
(
ALFA)
- HGVS:
18.
rs1483958151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:23488742
(GRCh38)
7:23528361
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23488741:C:T
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
19.
rs1483600238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:23489647
(GRCh38)
7:23529266
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23489646:C:G
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000225/1
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
20.
rs1483449417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCT
[Show Flanks]
- Chromosome:
- 7:23491718
(GRCh38)
7:23531338
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23491718:CT:CTGCT
- Gene:
- RPS2P32 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CTGCT=0./0
(
ALFA)
CTG=0.000029/4
(GnomAD)
- HGVS: