Links from Gene
Items: 1 to 20 of 1022
1.
rs1490787554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:21044236
(GRCh38)
22:21398525
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044235:T:G
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
2.
rs1490553056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:21046223
(GRCh38)
22:21400512
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21046222:G:A,NC_000022.11:21046222:G:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
- HGVS:
3.
rs1490423814 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 22:21045088
(GRCh38)
22:21399377
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045087:AAA:AA
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490408598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21045214
(GRCh38)
22:21399503
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045213:T:C
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489704596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21045874
(GRCh38)
22:21400163
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045873:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488157168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:21046133
(GRCh38)
22:21400422
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21046132:G:C
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_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:
8.
rs1486572448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:21045273
(GRCh38)
22:21399562
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045272:C:G,NC_000022.11:21045272:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486228990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 22:21042472
(GRCh38)
22:21396761
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21042471:A:C,NC_000022.11:21042471:A:G
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1484624809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21043586
(GRCh38)
22:21397875
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21043585:G:A
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
11.
rs1484597478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:21042851
(GRCh38)
22:21397140
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21042850:G:C
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1484369656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:21045952
(GRCh38)
22:21400241
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045951:G:A,NC_000022.11:21045951:G:C
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.21045952G>A, NC_000022.11:g.21045952G>C, NC_000022.10:g.21400241G>A, NC_000022.10:g.21400241G>C, XM_011530176.3:c.-35G>A, XM_011530176.3:c.-35G>C, NR_027006.2:n.7G>A, NR_027006.2:n.7G>C, NR_110991.2:n.7G>A, NR_110991.2:n.7G>C, NM_001291006.2:c.-35G>A, NM_001291006.2:c.-35G>C, XR_937847.2:n.7G>A, XR_937847.2:n.7G>C, XM_017028797.2:c.-35G>A, XM_017028797.2:c.-35G>C, XR_937856.2:n.7G>A, XR_937856.2:n.7G>C, XR_937849.2:n.7G>A, XR_937849.2:n.7G>C, XR_937851.2:n.7G>A, XR_937851.2:n.7G>C, XR_937858.2:n.7G>A, XR_937858.2:n.7G>C, XR_937859.2:n.7G>A, XR_937859.2:n.7G>C, XR_937862.2:n.7G>A, XR_937862.2:n.7G>C, XR_937861.2:n.7G>A, XR_937861.2:n.7G>C, XM_011530175.2:c.-35G>A, XM_011530175.2:c.-35G>C, XM_011530174.2:c.-35G>A, XM_011530174.2:c.-35G>C, XM_011530177.2:c.-35G>A, XM_011530177.2:c.-35G>C, XM_047441362.1:c.-35G>A, XM_047441362.1:c.-35G>C
13.
rs1484312382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21043974
(GRCh38)
22:21398263
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21043973:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_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:
14.
rs1484139574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:21046167
(GRCh38)
22:21400456
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21046166:G:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1482951690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21045060
(GRCh38)
22:21399349
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045059:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1482585252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:21044879
(GRCh38)
22:21399168
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044873:TCTCTCT:TCTCT
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
18.
rs1481135075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21045792
(GRCh38)
22:21400081
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21045791:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
19.
rs1481032296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21043002
(GRCh38)
22:21397291
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21043001:G:A
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1480621274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21042957
(GRCh38)
22:21397246
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21042956:C:T
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS: