Links from Gene
Items: 1 to 20 of 1027
1.
rs1490307541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:63842610
(GRCh38)
2:64069744
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63842609:C:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00001/1
(GnomAD_exomes)
T=0.00006/1
(TOMMO)
- HGVS:
2.
rs1489758337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63843699
(GRCh38)
2:64070833
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63843698:T:C
- Gene:
- UGP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486766341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:63841909
(GRCh38)
2:64069043
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841908:T:G
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1485987627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 2:63840764
(GRCh38)
2:64067898
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63840763:C:A,NC_000002.12:63840763:C:G,NC_000002.12:63840763:C:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000002.12:g.63840764C>A, NC_000002.12:g.63840764C>G, NC_000002.12:g.63840764C>T, NC_000002.11:g.64067898C>A, NC_000002.11:g.64067898C>G, NC_000002.11:g.64067898C>T, NG_028144.2:g.5062G>T, NG_028144.2:g.5062G>C, NG_028144.2:g.5062G>A, XM_047444626.1:c.-5624G>T, XM_047444626.1:c.-5624G>C, XM_047444626.1:c.-5624G>A, XM_047444627.1:c.-1237G>T, XM_047444627.1:c.-1237G>C, XM_047444627.1:c.-1237G>A, XM_047444631.1:c.-1151G>T, XM_047444631.1:c.-1151G>C, XM_047444631.1:c.-1151G>A, XM_047444629.1:c.-1151G>T, XM_047444629.1:c.-1151G>C, XM_047444629.1:c.-1151G>A
5.
rs1485892932 has merged into rs112594051 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 2:63842116
(GRCh38)
2:64069250
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63842110:AGAGAGA:AGAGA
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.00008/1
(GoESP)
- HGVS:
6.
rs1485244299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:63840718
(GRCh38)
2:64067852
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63840717:C:A,NC_000002.12:63840717:C:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
NC_000002.12:g.63840718C>A, NC_000002.12:g.63840718C>T, NC_000002.11:g.64067852C>A, NC_000002.11:g.64067852C>T, NG_028144.2:g.5108G>T, NG_028144.2:g.5108G>A, XM_047444626.1:c.-5578G>T, XM_047444626.1:c.-5578G>A, XM_047444627.1:c.-1191G>T, XM_047444627.1:c.-1191G>A, XM_047444631.1:c.-1105G>T, XM_047444631.1:c.-1105G>A, XM_047444629.1:c.-1105G>T, XM_047444629.1:c.-1105G>A
7.
rs1485216896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:63843191
(GRCh38)
2:64070325
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63843190:A:C
- Gene:
- UGP2 (Varview)
- Functional Consequence:
- intron_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.
rs1484763400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:63841145
(GRCh38)
2:64068279
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841144:C:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1483932614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:63841979
(GRCh38)
2:64069113
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841978:G:A
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
10.
rs1482953112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:63841707
(GRCh38)
2:64068841
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841706:C:G,NC_000002.12:63841706:C:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1482261887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:63842422
(GRCh38)
2:64069556
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63842421:G:A,NC_000002.12:63842421:G:C,NC_000002.12:63842421:G:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
NC_000002.12:g.63842422G>A, NC_000002.12:g.63842422G>C, NC_000002.12:g.63842422G>T, NC_000002.11:g.64069556G>A, NC_000002.11:g.64069556G>C, NC_000002.11:g.64069556G>T, NG_028144.2:g.3404C>T, NG_028144.2:g.3404C>G, NG_028144.2:g.3404C>A, XM_024453120.2:c.-91G>A, XM_024453120.2:c.-91G>C, XM_024453120.2:c.-91G>T, XM_024453120.1:c.-91G>A, XM_024453120.1:c.-91G>C, XM_024453120.1:c.-91G>T
12.
rs1481795528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:63843776
(GRCh38)
2:64070910
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63843775:A:T
- Gene:
- UGP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
13.
rs1481272537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:63841644
(GRCh38)
2:64068778
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841643:T:C
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1479305843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:63843784
(GRCh38)
2:64070918
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63843783:A:T
- Gene:
- UGP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1478685773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:63842618
(GRCh38)
2:64069752
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63842617:G:A
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.00001/1
(GnomAD_exomes)
- HGVS:
16.
rs1476600585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:63841157
(GRCh38)
2:64068291
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841156:G:T
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1476490824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:63841195
(GRCh38)
2:64068329
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63841194:A:G
- Gene:
- UGP2 (Varview), WDPCP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1476397638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:63843669
(GRCh38)
2:64070803
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63843668:A:G
- Gene:
- UGP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1475956463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:63843817
(GRCh38)
2:64070951
(GRCh37)
- Canonical SPDI:
- NC_000002.12:63843816:A:G
- Gene:
- UGP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: