Links from Nucleotide
Items: 1 to 20 of 497
2.
rs1487896339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:11031082
(GRCh38)
12:11183681
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031081:T:A,NC_000012.12:11031081:T:C
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.11031082T>A, NC_000012.12:g.11031082T>C, NC_000012.11:g.11183681T>A, NC_000012.11:g.11183681T>C, NT_187658.1:g.230087T>A, NT_187658.1:g.230087T>C, NW_003571047.1:g.230098T>A, NW_003571047.1:g.230098T>C, NW_003571050.1:g.229788T>A, NW_003571050.1:g.229788T>C, NM_176885.2:c.254A>T, NM_176885.2:c.254A>G, NP_795366.2:p.Tyr85Phe, NP_795366.2:p.Tyr85Cys
3.
rs1484883393 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:11031397
(GRCh38)
12:11183996
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031396:A:
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
6.
rs1478428943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:11031152
(GRCh38)
12:11183751
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031151:A:C,NC_000012.12:11031151:A:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000004/1
(GnomAD_exomes)
C=0.000283/5
(TOMMO)
- HGVS:
NC_000012.12:g.11031152A>C, NC_000012.12:g.11031152A>G, NC_000012.11:g.11183751A>C, NC_000012.11:g.11183751A>G, NT_187658.1:g.230157A>C, NT_187658.1:g.230157A>G, NW_003571047.1:g.230168A>C, NW_003571047.1:g.230168A>G, NW_003571050.1:g.229858A>C, NW_003571050.1:g.229858A>G, NM_176885.2:c.184T>G, NM_176885.2:c.184T>C, NP_795366.2:p.Leu62Val
7.
rs1475052340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:11031086
(GRCh38)
12:11183685
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031085:C:G,NC_000012.12:11031085:C:T
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.11031086C>G, NC_000012.12:g.11031086C>T, NC_000012.11:g.11183685C>G, NC_000012.11:g.11183685C>T, NT_187658.1:g.230091C>G, NT_187658.1:g.230091C>T, NW_003571047.1:g.230102C>G, NW_003571047.1:g.230102C>T, NW_003571050.1:g.229792C>G, NW_003571050.1:g.229792C>T, NM_176885.2:c.250G>C, NM_176885.2:c.250G>A, NP_795366.2:p.Ala84Pro, NP_795366.2:p.Ala84Thr
8.
rs1473575348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:11031039
(GRCh38)
12:11183638
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031038:A:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1472900491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:11030954
(GRCh38)
12:11183553
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030953:C:T
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
10.
rs1472609889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:11030993
(GRCh38)
12:11183592
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030992:T:C,NC_000012.12:11030992:T:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.11030993T>C, NC_000012.12:g.11030993T>G, NC_000012.11:g.11183592T>C, NC_000012.11:g.11183592T>G, NT_187658.1:g.229998T>C, NT_187658.1:g.229998T>G, NW_003571047.1:g.230009T>C, NW_003571047.1:g.230009T>G, NW_003571050.1:g.229699T>C, NW_003571050.1:g.229699T>G, NM_176885.2:c.343A>G, NM_176885.2:c.343A>C, NP_795366.2:p.Asn115Asp, NP_795366.2:p.Asn115His
11.
rs1472592525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:11030430
(GRCh38)
12:11183029
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030429:T:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00026/4
(
ALFA)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1468806707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:11030892
(GRCh38)
12:11183491
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030891:G:A
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000008/2
(GnomAD_exomes)
- HGVS:
13.
rs1467631035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:11030669
(GRCh38)
12:11183268
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030668:C:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1466056499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:11031333
(GRCh38)
12:11183932
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031332:C:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,initiator_codon_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1463129266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:11031275
(GRCh38)
12:11183874
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11031274:T:A,NC_000012.12:11031274:T:C
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.11031275T>A, NC_000012.12:g.11031275T>C, NC_000012.11:g.11183874T>A, NC_000012.11:g.11183874T>C, NT_187658.1:g.230280T>A, NT_187658.1:g.230280T>C, NW_003571047.1:g.230291T>A, NW_003571047.1:g.230291T>C, NW_003571050.1:g.229981T>A, NW_003571050.1:g.229981T>C, NM_176885.2:c.61A>T, NM_176885.2:c.61A>G, NP_795366.2:p.Asn21Tyr, NP_795366.2:p.Asn21Asp
18.
rs1458845204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:11030699
(GRCh38)
12:11183298
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030698:C:A
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
19.
rs1457776419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:11030787
(GRCh38)
12:11183386
(GRCh37)
- Canonical SPDI:
- NC_000012.12:11030786:T:G
- Gene:
- PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: