Links from Nucleotide
Items: 1 to 20 of 963
1.
rs1490415019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 16:2839917
(GRCh38)
16:2889918
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2839916:CCCCCC:CCCCC,NC_000016.10:2839916:CCCCCC:CCCCCCC
- Gene:
- PRSS30P (Varview), LOC124903628 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000156/1
(1000Genomes)
-=0.000546/1
(Korea1K)
- HGVS:
NC_000016.10:g.2839922del, NC_000016.10:g.2839922dup, NC_000016.9:g.2889923del, NC_000016.9:g.2889923dup, NW_013171812.1:g.19384del, NW_013171812.1:g.19384dup, NR_026864.2:n.2619del, NR_026864.2:n.2619dup, NR_026864.1:n.2619del, NR_026864.1:n.2619dup, NM_178453.2:c.180del, NM_178453.2:c.180dup, NM_178453.1:c.180del, NM_178453.1:c.180dup
2.
rs1490252723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2839617
(GRCh38)
16:2889618
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2839616:C:T
- Gene:
- PRSS30P (Varview), LOC124903628 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,downstream_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:
3.
rs1489337860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2841705
(GRCh38)
16:2891706
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841704:C:T
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489118140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2842102
(GRCh38)
16:2892103
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2842101:C:T
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_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:
5.
rs1488661212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:2840678
(GRCh38)
16:2890679
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2840677:T:G
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0075/89
(
ALFA)
G=0.00085/24
(TOMMO)
G=0.00164/3
(Korea1K)
G=0.0025/16
(1000Genomes)
G=0.00857/25
(KOREAN)
- HGVS:
6.
rs1488306684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:2840822
(GRCh38)
16:2890823
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2840821:T:C
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487762310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:2840635
(GRCh38)
16:2890636
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2840634:T:C
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487428028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:2841012
(GRCh38)
16:2891013
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841011:A:G
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1487376473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2840939
(GRCh38)
16:2890940
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2840938:G:A
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1486406605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:2842725
(GRCh38)
16:2892726
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2842724:G:C
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000318/5
(TOMMO)
- HGVS:
11.
rs1485572353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:2841686
(GRCh38)
16:2891687
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841685:G:T
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
12.
rs1485094461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:2842494
(GRCh38)
16:2892495
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2842493:G:C
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1484880065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:2839739
(GRCh38)
16:2889740
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2839738:G:C
- Gene:
- PRSS30P (Varview), LOC124903628 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000312/2
(1000Genomes)
- HGVS:
14.
rs1484871737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:2841791
(GRCh38)
16:2891792
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841790:T:G
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00825/172
(
ALFA)
G=0.00149/25
(TOMMO)
G=0.00153/144
(GnomAD_exomes)
G=0.01198/35
(KOREAN)
- HGVS:
15.
rs1484820041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:2842573
(GRCh38)
16:2892574
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2842572:G:T
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_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:
16.
rs1484649551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:2841918
(GRCh38)
16:2891919
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841917:G:C
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1482355140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:2841638
(GRCh38)
16:2891639
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841637:C:A
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000009/1
(GnomAD_exomes)
- HGVS:
18.
rs1481939062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:2842484
(GRCh38)
16:2892485
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2842483:A:G
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
19.
rs1480714700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 16:2842657
(GRCh38)
16:2892658
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2842656:C:A,NC_000016.10:2842656:C:G
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1480534212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:2841614
(GRCh38)
16:2891615
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2841613:A:G
- Gene:
- PRSS30P (Varview)
- Functional Consequence:
- non_coding_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: