Links from Gene
Items: 1 to 20 of 1574
2.
rs1489693449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:175442872
(GRCh38)
5:174869875
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175442871:C:G
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000012/3
(GnomAD_exomes)
- HGVS:
3.
rs1488707066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 5:175440790
(GRCh38)
5:174867793
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175440789:C:A,NC_000005.10:175440789:C:G,NC_000005.10:175440789:C:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
NC_000005.10:g.175440790C>A, NC_000005.10:g.175440790C>G, NC_000005.10:g.175440790C>T, NC_000005.9:g.174867793C>A, NC_000005.9:g.174867793C>G, NC_000005.9:g.174867793C>T, NG_011802.1:g.8371G>T, NG_011802.1:g.8371G>C, NG_011802.1:g.8371G>A, NM_000794.5:c.*969G>T, NM_000794.5:c.*969G>C, NM_000794.5:c.*969G>A, NM_000794.4:c.*969G>T, NM_000794.4:c.*969G>C, NM_000794.4:c.*969G>A, NM_000794.3:c.*969G>T, NM_000794.3:c.*969G>C, NM_000794.3:c.*969G>A
4.
rs1488437070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 5:175445570
(GRCh38)
5:174872573
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175445569:T:A,NC_000005.10:175445569:T:C
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000057/8
(GnomAD)
- HGVS:
5.
rs1488407522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:175444704
(GRCh38)
5:174871707
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175444703:C:G
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000106/2
(TOMMO)
- HGVS:
6.
rs1487600187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:175441135
(GRCh38)
5:174868138
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175441134:G:C
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000106/2
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
7.
rs1487455913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:175446015
(GRCh38)
5:174873018
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175446014:C:G,NC_000005.10:175446014:C:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
8.
rs1487424595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:175445039
(GRCh38)
5:174872042
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175445038:G:A,NC_000005.10:175445038:G:C
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486755288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:175439699
(GRCh38)
5:174866702
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175439698:A:G
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1486445814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:175446120
(GRCh38)
5:174873123
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175446119:C:A
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS:
11.
rs1486110843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 5:175443606
(GRCh38)
5:174870609
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175443601:ACACAC:ACAC
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
13.
rs1485485273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:175445144
(GRCh38)
5:174872147
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175445143:C:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1485452515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:175444333
(GRCh38)
5:174871336
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175444332:C:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1484479744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:175444432
(GRCh38)
5:174871435
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175444431:C:G
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000283/5
(TOMMO)
G=0.000342/1
(KOREAN)
G=0.001124/2
(Korea1K)
- HGVS:
16.
rs1483875721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:175439865
(GRCh38)
5:174866868
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175439864:A:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1483834231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:175441053
(GRCh38)
5:174868056
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175441052:C:A
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1482562471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:175445608
(GRCh38)
5:174872611
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175445607:C:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
19.
rs1482479839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:175442983
(GRCh38)
5:174869986
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175442982:C:T
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1482251145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:175443070
(GRCh38)
5:174870073
(GRCh37)
- Canonical SPDI:
- NC_000005.10:175443069:G:A
- Gene:
- DRD1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS: