Links from Gene
Items: 1 to 20 of 1000
2.
rs1489625228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:12822208
(GRCh38)
1:12882070
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12822207:T:A,NC_000001.11:12822207:T:C
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489231252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:12822286
(GRCh38)
1:12882148
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12822285:T:A
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
4.
rs1489122977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:12825170
(GRCh38)
1:12885028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12825169:G:A
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1488794921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:12824971
(GRCh38)
1:12884829
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12824970:C:T
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.12824971C>T, NC_000001.10:g.12884829C>T, NW_012132914.1:g.6484C>T, NM_001146344.3:c.1408G>A, NM_001146344.2:c.1408G>A, NM_001146344.1:c.1282G>A, XM_011541479.3:c.1408G>A, XM_011541479.2:c.1408G>A, XM_011541479.1:c.1408G>A, NP_001139816.2:p.Asp470Asn, XP_011539781.1:p.Asp470Asn
6.
rs1488501456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:12823105
(GRCh38)
1:12882968
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12823104:C:T
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000537/9
(TOMMO)
T=0.00138/4
(KOREAN)
- HGVS:
7.
rs1488188447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:12822902
(GRCh38)
1:12882765
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12822901:A:T
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000015/2
(GnomAD)
T=0.000535/9
(TOMMO)
T=0.00583/17
(KOREAN)
- HGVS:
8.
rs1488177546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:12823406
(GRCh38)
1:12883269
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12823405:T:G
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488029915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:12823183
(GRCh38)
1:12883046
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12823182:G:C
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487664926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 1:12822742
(GRCh38)
1:12882605
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12822741:A:C,NC_000001.11:12822741:A:G,NC_000001.11:12822741:A:T
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS:
NC_000001.11:g.12822742A>C, NC_000001.11:g.12822742A>G, NC_000001.11:g.12822742A>T, NC_000001.10:g.12882605A>C, NC_000001.10:g.12882605A>G, NC_000001.10:g.12882605A>T, NW_012132914.1:g.4255A>C, NW_012132914.1:g.4255A>G, NW_012132914.1:g.4255A>T, NR_146629.1:n.386T>G, NR_146629.1:n.386T>C, NR_146629.1:n.386T>A
11.
rs1487427865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:12823521
(GRCh38)
1:12883384
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12823520:A:G
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000057/15
(TOPMED)
G=0.000072/10
(GnomAD)
- HGVS:
12.
rs1486200219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:12824521
(GRCh38)
1:12884379
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12824520:G:A
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1486167003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:12824277
(GRCh38)
1:12884135
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12824276:T:C
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1486140947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:12822337
(GRCh38)
1:12882199
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12822336:T:A,NC_000001.11:12822336:T:G
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
15.
rs1486090260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:12823501
(GRCh38)
1:12883364
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12823500:G:A
- Gene:
- LINC01784 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002455/39
(
ALFA)
G=0./0
(SGDP_PRJ)
A=0.001994/271
(GnomAD)
A=0.014777/43
(KOREAN)
A=0.025988/432
(TOMMO)
A=0.032418/59
(Korea1K)
- HGVS:
16.
rs1484960996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:12824817
(GRCh38)
1:12884675
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12824816:C:A
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000053/14
(TOPMED)
- HGVS:
17.
rs1484925868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:12823093
(GRCh38)
1:12882956
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12823092:T:A
- Gene:
- LINC01784 (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:
18.
rs1484594109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:12824125
(GRCh38)
1:12883983
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12824124:A:G
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000049/6
(GnomAD)
G=0.000468/3
(1000Genomes)
- HGVS:
19.
rs1484265769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:12824416
(GRCh38)
1:12884274
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12824415:G:C
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000107/2
(TOMMO)
- HGVS:
20.
rs1484233714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:12825112
(GRCh38)
1:12884970
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12825111:C:T
- Gene:
- PRAMEF11 (Varview), LINC01784 (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.12825112C>T, NC_000001.10:g.12884970C>T, NW_012132914.1:g.6625C>T, NM_001146344.3:c.1267G>A, NM_001146344.2:c.1267G>A, NM_001146344.1:c.1141G>A, XM_011541479.3:c.1267G>A, XM_011541479.2:c.1267G>A, XM_011541479.1:c.1267G>A, NP_001139816.2:p.Gly423Ser, XP_011539781.1:p.Gly423Ser