Links from Gene
Items: 1 to 20 of 1715
1.
rs1491160610 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 22:39530735
(GRCh38)
22:39926741
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39530735::C
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490789737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 22:39533248
(GRCh38)
22:39929253
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39533247:T:A,NC_000022.11:39533247:T:C
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.004673/1
(Vietnamese)
- HGVS:
3.
rs1489355313 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACC>-
[Show Flanks]
- Chromosome:
- 22:39532779
(GRCh38)
22:39928784
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39532776:CCGACC:CC
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000016/2
(GnomAD_exomes)
-=0.000022/3
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
4.
rs1489095369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 22:39529288
(GRCh38)
22:39925293
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39529286:CTC:C
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488533650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39534756
(GRCh38)
22:39930761
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39534755:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488520797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:39533656
(GRCh38)
22:39929661
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39533655:G:C
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
7.
rs1487589232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:39528857
(GRCh38)
22:39924862
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39528856:C:A,NC_000022.11:39528856:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
T=0.000212/4
(TOMMO)
- HGVS:
8.
rs1486262896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39530769
(GRCh38)
22:39926774
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39530768:G:A
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1485243712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:39529573
(GRCh38)
22:39925578
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39529572:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000094/2
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1485205901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:39530871
(GRCh38)
22:39926876
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39530870:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 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:
13.
rs1483743142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:39534544
(GRCh38)
22:39930549
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39534543:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1483573760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:39531325
(GRCh38)
22:39927330
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39531324:T:G
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 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.
rs1483437466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:39530041
(GRCh38)
22:39926046
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39530040:C:G,NC_000022.11:39530040:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.00003/8
(TOPMED)
G=0.003821/7
(Korea1K)
- HGVS:
17.
rs1483060229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39533434
(GRCh38)
22:39929439
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39533433:G:A
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1483050895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:39532746
(GRCh38)
22:39928751
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39532745:C:G,NC_000022.11:39532745:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000022.11:g.39532746C>G, NC_000022.11:g.39532746C>T, NC_000022.10:g.39928751C>G, NC_000022.10:g.39928751C>T, NM_194326.4:c.-8G>C, NM_194326.4:c.-8G>A, NM_194326.3:c.-8G>C, NM_194326.3:c.-8G>A, NM_194326.2:c.-8G>C, NM_194326.2:c.-8G>A, NR_130151.2:n.3G>C, NR_130151.2:n.3G>A, NR_130151.1:n.110G>C, NR_130151.1:n.110G>A
19.
rs1482921191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:39532263
(GRCh38)
22:39928268
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39532262:C:A,NC_000022.11:39532262:C:T
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482434766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 22:39531502
(GRCh38)
22:39927507
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39531501:A:C,NC_000022.11:39531501:A:G
- Gene:
- RPS19BP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS: