Links from Nucleotide
Items: 1 to 20 of 144
1.
rs1486316174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:143000952
(GRCh38)
3:142719794
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143000951:C:A
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1484155724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:143001465
(GRCh38)
3:142720307
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001464:T:G
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1472797767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:143001167
(GRCh38)
3:142720009
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001166:G:C
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1471307969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:143001455
(GRCh38)
3:142720297
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001454:C:T
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
5.
rs1467618944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 3:143001456
(GRCh38)
3:142720298
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001455:T:A,NC_000003.12:143001455:T:G
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000106/2
(TOMMO)
A=0.000342/1
(KOREAN)
- HGVS:
6.
rs1459080622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:143001055
(GRCh38)
3:142719897
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001054:C:T
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (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=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1451751398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:143001213
(GRCh38)
3:142720055
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001212:G:A
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1450566415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:143001360
(GRCh38)
3:142720202
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001359:G:A
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1449541202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:143001248
(GRCh38)
3:142720090
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001247:A:G
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
10.
rs1448139817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:143001323
(GRCh38)
3:142720165
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001322:G:A,NC_000003.12:143001322:G:C
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1443730259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:143001432
(GRCh38)
3:142720274
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001431:G:A
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00007/1
(
ALFA)
A=0.00022/1
(Estonian)
- HGVS:
12.
rs1442292287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:143001080
(GRCh38)
3:142719922
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001079:C:T
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1435978829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 3:143001382
(GRCh38)
3:142720224
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001381:T:A,NC_000003.12:143001381:T:G
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/1
(GnomAD)
- HGVS:
14.
rs1428456414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:143001402
(GRCh38)
3:142720244
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001401:A:T
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1423448070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 3:143001413
(GRCh38)
3:142720255
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001412:C:A,NC_000003.12:143001412:C:G
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1421044023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:143000929
(GRCh38)
3:142719771
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143000928:A:G
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1416142866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:143001443
(GRCh38)
3:142720285
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001442:G:A
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
18.
rs1416072694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 3:143001163
(GRCh38)
3:142720005
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001162:A:G,NC_000003.12:143001162:A:T
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS:
19.
rs1412635223 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:143001038
(GRCh38)
3:142719880
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001035:AGAG:AG
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1410011204 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AAGTTGG>-
[Show Flanks]
- Chromosome:
- 3:143001059
(GRCh38)
3:142719901
(GRCh37)
- Canonical SPDI:
- NC_000003.12:143001058:AAGTTGG:
- Gene:
- U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS: