Links from Nucleotide
Items: 1 to 20 of 26
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.
rs1451478784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21044186
(GRCh38)
22:21398475
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044185:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
3.
rs1440457599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21044154
(GRCh38)
22:21398443
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044153:G:A
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_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:
4.
rs1431392505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 22:21042407
(GRCh38)
22:21396696
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21042406:T:A
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1344273558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21044164
(GRCh38)
22:21398453
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044163:G:A
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1328071709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21042413
(GRCh38)
22:21396702
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21042412:C:T
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1324006405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21044225
(GRCh38)
22:21398514
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044224:T:C
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1283565155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:21044159
(GRCh38)
22:21398448
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044158:T:G
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1283501403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:21044194
(GRCh38)
22:21398483
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044193:A:C
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
10.
rs1271473372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21044187
(GRCh38)
22:21398476
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044186:G:A
- 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:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
11.
rs1270537921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21044215
(GRCh38)
22:21398504
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044214:G:A
- 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:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1240095006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21044163
(GRCh38)
22:21398452
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044162:C:T
- 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:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
14.
rs1230413135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:21044165
(GRCh38)
22:21398454
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044164:A: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=0.000011/3
(TOPMED)
- HGVS:
15.
rs1224944336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21044237
(GRCh38)
22:21398526
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044236:G:A
- 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:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1196839014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 22:21044247
(GRCh38)
22:21398536
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044246:T:A
- 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:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1158247254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21044151
(GRCh38)
22:21398440
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044150:G:A
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
18.
rs1007307785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:21044223
(GRCh38)
22:21398512
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044222:C: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=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
19.
rs890250105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21044214
(GRCh38)
22:21398503
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21044213:C:T
- Gene:
- LRRC74B (Varview), P2RX6P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
20.
rs867312495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21042405
(GRCh38)
22:21396694
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21042404:C:T
- Gene:
- P2RX6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.00463/1
(Qatari)
- HGVS: