Links from Nucleotide
Items: 1 to 20 of 336
1.
rs1490766966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:10986338
(GRCh38)
12:11138937
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986337:A:G
- Gene:
- PRH1 (Varview), TAS2R50 (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:
G=0.000028/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
2.
rs1488400891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:10986437
(GRCh38)
12:11139036
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986436:AAA:AA
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0.000111/1
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1488362785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:10986182
(GRCh38)
12:11138781
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986181:C:T
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1487513862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:10986827
(GRCh38)
12:11139426
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986826:G:A,NC_000012.12:10986826:G:C
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000412/8
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.10986827G>A, NC_000012.12:g.10986827G>C, NC_000012.11:g.11139426G>A, NC_000012.11:g.11139426G>C, NT_187658.1:g.185520G>A, NT_187658.1:g.185520G>C, NW_003571047.1:g.185533G>A, NW_003571047.1:g.185533G>C, NW_003571050.1:g.185533G>A, NW_003571050.1:g.185533G>C, NM_176890.2:c.34C>T, NM_176890.2:c.34C>G, NP_795371.2:p.Leu12Val
5.
rs1487400860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10986095
(GRCh38)
12:11138694
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986094:G:A
- Gene:
- PRH1 (Varview), TAS2R50 (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:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487387693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:10986484
(GRCh38)
12:11139083
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986483:C:T
- Gene:
- PRH1 (Varview), TAS2R50 (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:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1483539418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:10986058
(GRCh38)
12:11138657
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986057:C:A
- Gene:
- PRH1 (Varview), TAS2R50 (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:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1481412692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:10986446
(GRCh38)
12:11139045
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986445:A:G
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1481287067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:10986260
(GRCh38)
12:11138859
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986259:A:T
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1477046709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10986042
(GRCh38)
12:11138641
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986041:T:C
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1470898844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:10986389
(GRCh38)
12:11138988
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986388:A:G,NC_000012.12:10986388:A:T
- Gene:
- PRH1 (Varview), TAS2R50 (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:
T=0.000142/2
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
NC_000012.12:g.10986389A>G, NC_000012.12:g.10986389A>T, NC_000012.11:g.11138988A>G, NC_000012.11:g.11138988A>T, NT_187658.1:g.185082A>G, NT_187658.1:g.185082A>T, NW_003571047.1:g.185095A>G, NW_003571047.1:g.185095A>T, NW_003571050.1:g.185095A>G, NW_003571050.1:g.185095A>T, NM_176890.2:c.472T>C, NM_176890.2:c.472T>A, NP_795371.2:p.Tyr158His, NP_795371.2:p.Tyr158Asn
12.
rs1470706663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:10986569
(GRCh38)
12:11139168
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986568:G:C
- Gene:
- PRH1 (Varview), TAS2R50 (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)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1464570973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:10985967
(GRCh38)
12:11138566
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10985966:C:A
- Gene:
- PRH1 (Varview), TAS2R50 (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=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1463006752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10986349
(GRCh38)
12:11138948
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986348:G:A
- Gene:
- PRH1 (Varview), TAS2R50 (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=0.000004/1
(TOPMED)
A=0.000008/2
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1461675086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10986027
(GRCh38)
12:11138626
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986026:G:A
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1454671640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:10986308
(GRCh38)
12:11138907
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986307:A:G
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1453390750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:10986177
(GRCh38)
12:11138776
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986176:C:A,NC_000012.12:10986176:C:T
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.10986177C>A, NC_000012.12:g.10986177C>T, NC_000012.11:g.11138776C>A, NC_000012.11:g.11138776C>T, NT_187658.1:g.184870C>A, NT_187658.1:g.184870C>T, NW_003571047.1:g.184883C>A, NW_003571047.1:g.184883C>T, NW_003571050.1:g.184883C>A, NW_003571050.1:g.184883C>T, NM_176890.2:c.684G>T, NM_176890.2:c.684G>A, NP_795371.2:p.Leu228Phe
18.
rs1450528963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10986266
(GRCh38)
12:11138865
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986265:T:C
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1449858513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:10986597
(GRCh38)
12:11139196
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986596:C:G,NC_000012.12:10986596:C:T
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained,genic_upstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.10986597C>G, NC_000012.12:g.10986597C>T, NC_000012.11:g.11139196C>G, NC_000012.11:g.11139196C>T, NT_187658.1:g.185290C>G, NT_187658.1:g.185290C>T, NW_003571047.1:g.185303C>G, NW_003571047.1:g.185303C>T, NW_003571050.1:g.185303C>G, NW_003571050.1:g.185303C>T, NM_176890.2:c.264G>C, NM_176890.2:c.264G>A, NP_795371.2:p.Trp88Cys, NP_795371.2:p.Trp88Ter
20.
rs1449026947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10986034
(GRCh38)
12:11138633
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10986033:G:A
- Gene:
- PRH1 (Varview), TAS2R50 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS: