Links from Gene
Items: 1 to 20 of 919
1.
rs1490909742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:55386218
(GRCh38)
19:55897586
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386217:C:G
- Gene:
- RPL28 (Varview), TMEM238 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489577648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55388641
(GRCh38)
19:55900009
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55388640:G:A
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1487985430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:55388317
(GRCh38)
19:55899685
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55388316:C:A
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1487868123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55387122
(GRCh38)
19:55898490
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55387121:C:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1485304873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:55386696
(GRCh38)
19:55898064
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386695:G:C
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1485243299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:55387241
(GRCh38)
19:55898609
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55387240:C:A
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1485212576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:55387966
(GRCh38)
19:55899334
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55387965:C:A
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.55387966C>A, NC_000019.9:g.55899334C>A, NM_000991.5:c.242C>A, NM_000991.4:c.242C>A, NM_001136135.2:c.242C>A, NM_001136135.1:c.242C>A, NM_001136134.1:c.242C>A, NM_001363697.1:c.242C>A, NP_000982.2:p.Thr81Asn, NP_001129607.1:p.Thr81Asn, NP_001129606.1:p.Thr81Asn, NP_001350626.1:p.Thr81Asn
10.
rs1485138234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:55386682
(GRCh38)
19:55898050
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386681:A:G
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.55386682A>G, NC_000019.9:g.55898050A>G, NM_000991.5:c.194A>G, NM_000991.4:c.194A>G, NM_001136135.2:c.194A>G, NM_001136135.1:c.194A>G, NM_001136134.1:c.194A>G, NM_001363697.1:c.194A>G, NM_001136137.1:c.194A>G, NM_001136136.1:c.194A>G, NP_000982.2:p.Lys65Arg, NP_001129607.1:p.Lys65Arg, NP_001129606.1:p.Lys65Arg, NP_001350626.1:p.Lys65Arg, NP_001129609.1:p.Lys65Arg, NP_001129608.1:p.Lys65Arg
11.
rs1483833858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:55388636
(GRCh38)
19:55900004
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55388635:G:A,NC_000019.10:55388635:G:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00027/5
(
ALFA)
T=0.00089/4
(Estonian)
- HGVS:
12.
rs1479470115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55386399
(GRCh38)
19:55897767
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386398:C:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
13.
rs1479295838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:55387730
(GRCh38)
19:55899098
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55387729:G:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,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:
15.
rs1475855362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:55386862
(GRCh38)
19:55898230
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386861:G:A,NC_000019.10:55386861:G:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
16.
rs1475102062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:55386940
(GRCh38)
19:55898308
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386939:T:G
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.00001/1
(GnomAD_exomes)
- HGVS:
17.
rs1474689265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55388710
(GRCh38)
19:55900078
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55388709:C:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_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:
18.
rs1474565627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:55386443
(GRCh38)
19:55897811
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55386442:G:C
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1472960300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55387986
(GRCh38)
19:55899354
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55387985:G:A
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.55387986G>A, NC_000019.9:g.55899354G>A, NM_000991.5:c.262G>A, NM_000991.4:c.262G>A, NM_001136135.2:c.262G>A, NM_001136135.1:c.262G>A, NM_001136134.1:c.262G>A, NM_001363697.1:c.262G>A, NP_000982.2:p.Ala88Thr, NP_001129607.1:p.Ala88Thr, NP_001129606.1:p.Ala88Thr, NP_001350626.1:p.Ala88Thr
20.
rs1472595622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 19:55387487
(GRCh38)
19:55898855
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55387486:A:G,NC_000019.10:55387486:A:T
- Gene:
- RPL28 (Varview), MIR6805 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,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: