Links from Gene
Items: 1 to 20 of 870
1.
rs1490506062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:20918240
(GRCh38)
14:21386399
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918239:T:A
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
2.
rs1489948352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:20917474
(GRCh38)
14:21385633
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20917473:C:G,NC_000014.9:20917473:C:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.001027/3
(KOREAN)
- HGVS:
3.
rs1488162656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 14:20920292
(GRCh38)
14:21388451
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20920291:G:C,NC_000014.9:20920291:G:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
4.
rs1487637155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20917593
(GRCh38)
14:21385752
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20917592:A:G
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486543389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20919879
(GRCh38)
14:21388038
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20919878:T:C
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1485323776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:20918439
(GRCh38)
14:21386598
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918438:A:C,NC_000014.9:20918438:A:G
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
7.
rs1484906015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20918524
(GRCh38)
14:21386683
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918523:C:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000248/4
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
8.
rs1484634910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20917485
(GRCh38)
14:21385644
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20917484:G:C
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
9.
rs1483804223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20920115
(GRCh38)
14:21388274
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20920114:C:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1482050169 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 14:20919238
(GRCh38)
14:21387397
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20919235:TGTG:TG
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1481559573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20918369
(GRCh38)
14:21386528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918368:C:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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:
12.
rs1481508242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20917378
(GRCh38)
14:21385537
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20917377:G:C
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1481409241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20918193
(GRCh38)
14:21386352
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918192:T:C
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
14.
rs1480119187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:20918248
(GRCh38)
14:21386407
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918247:G:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.00015/20
(GnomAD)
- HGVS:
15.
rs1478308491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20918025
(GRCh38)
14:21386184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20918024:A:G
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1477636285 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 14:20920013
(GRCh38)
14:21388172
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20920010:GCGC:GC
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCGC=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1475031110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20917692
(GRCh38)
14:21385851
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20917691:C:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1474902717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:20917542
(GRCh38)
14:21385701
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20917541:C:A,NC_000014.9:20917541:C:T
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1473563972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20919230
(GRCh38)
14:21387389
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20919229:T:C
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000142/2
(TOMMO)
- HGVS:
20.
rs1471111319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 14:20919553
(GRCh38)
14:21387712
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20919552:T:A,NC_000014.9:20919552:T:C,NC_000014.9:20919552:T:G
- Gene:
- RNASE2CP (Varview), LOC100507513 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.009346/2
(Vietnamese)
- HGVS: