Links from Gene
Items: 1 to 20 of 1257
1.
rs1491011150 has merged into rs3070655 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 1:15658765
(GRCh38)
1:15985260
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3395/1700
(1000Genomes)
- HGVS:
NC_000001.11:g.15658765_15658769del, NC_000001.11:g.15658768_15658769del, NC_000001.11:g.15658769del, NC_000001.11:g.15658769dup, NC_000001.11:g.15658768_15658769dup, NC_000001.11:g.15658767_15658769dup, NC_000001.10:g.15985260_15985264del, NC_000001.10:g.15985263_15985264del, NC_000001.10:g.15985264del, NC_000001.10:g.15985264dup, NC_000001.10:g.15985263_15985264dup, NC_000001.10:g.15985262_15985264dup ...more
2.
rs1490439949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:15658749
(GRCh38)
1:15985244
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15658748:A:G
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490242113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:15659799
(GRCh38)
1:15986294
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15659798:C:G,NC_000001.11:15659798:C:T
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489677572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:15660407
(GRCh38)
1:15986902
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15660406:A:G
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
...more- HGVS:
6.
rs1487416913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:15662440
(GRCh38)
1:15988935
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15662439:G:A
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1487294636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:15659897
(GRCh38)
1:15986392
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15659896:T:G
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000032/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
...more- HGVS:
8.
rs1487149340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:15661966
(GRCh38)
1:15988461
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15661965:G:T
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
...more- HGVS:
10.
rs1486590914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:15659821
(GRCh38)
1:15986316
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15659820:C:T
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000012/2
(GnomAD_exomes)
- HGVS:
11.
rs1485749365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:15662304
(GRCh38)
1:15988799
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15662303:G:A
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
...more- HGVS:
12.
rs1485600745 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACCAGAG>-
[Show Flanks]
- Chromosome:
- 1:15660137
(GRCh38)
1:15986632
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15660134:AGACCAGAG:AG
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1484150061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:15660755
(GRCh38)
1:15987250
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15660754:C:G,NC_000001.11:15660754:C:T
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.15660755C>G, NC_000001.11:g.15660755C>T, NC_000001.10:g.15987250C>G, NC_000001.10:g.15987250C>T, NM_032341.5:c.*965C>G, NM_032341.5:c.*965C>T, NM_032341.4:c.*965C>G, NM_032341.4:c.*965C>T, NM_006511.3:c.887C>G, NM_006511.3:c.887C>T, NM_006511.2:c.887C>G, NM_006511.2:c.887C>T, NM_006511.1:c.887C>G, NM_006511.1:c.887C>T, NP_006502.1:p.Pro296Arg, NP_006502.1:p.Pro296Leu ...more
15.
rs1483990366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:15661166
(GRCh38)
1:15987661
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15661165:C:T
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
16.
rs1483738640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:15662427
(GRCh38)
1:15988922
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15662426:G:A
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000049/13
(TOPMED)
...more- HGVS:
17.
rs1483433138 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- 1:15658753
(GRCh38)
1:15985249
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15658753::A,NC_000001.11:15658753::AA
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
AA=0.00035/17
(GnomAD)
- HGVS:
18.
rs1483388951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:15661258
(GRCh38)
1:15987753
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15661257:A:G
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1482726203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:15662160
(GRCh38)
1:15988655
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15662159:G:A
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
...more- HGVS:
20.
rs1482387402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:15661564
(GRCh38)
1:15988059
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15661563:A:G
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS: