Links from Nucleotide
Items: 1 to 20 of 710
1.
rs1490908606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:100913361
(GRCh38)
15:101453566
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100913360:T:C
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490417747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:100913834
(GRCh38)
15:101454039
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100913833:T:C
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_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.
rs1489064828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 15:100913714
(GRCh38)
15:101453919
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100913713:T:C,NC_000015.10:100913713:T:G
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1488113128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:100915302
(GRCh38)
15:101455507
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100915301:T:G
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000015.10:g.100915302T>G, NC_000015.9:g.101455507T>G, NG_052791.1:g.1286T>G, NG_012254.1:g.40499T>G, NM_000693.4:c.*529T>G, NM_000693.3:c.*529T>G, NM_000693.2:c.*529T>G, NM_001293815.2:c.*529T>G, NM_001293815.1:c.*529T>G, NR_135831.1:n.2075A>C, NR_135828.1:n.1159A>C
5.
rs1487127701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100915863
(GRCh38)
15:101456068
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100915862:C:T
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_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:
NC_000015.10:g.100915863C>T, NC_000015.9:g.101456068C>T, NG_052791.1:g.1847C>T, NG_012254.1:g.41060C>T, NM_000693.4:c.*1090C>T, NM_000693.3:c.*1090C>T, NM_000693.2:c.*1090C>T, NM_001293815.2:c.*1090C>T, NM_001293815.1:c.*1090C>T, NR_135831.1:n.1514G>A, NR_135828.1:n.598G>A
6.
rs1486724557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:100915948
(GRCh38)
15:101456153
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100915947:T:G
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- HGVS:
NC_000015.10:g.100915948T>G, NC_000015.9:g.101456153T>G, NG_052791.1:g.1932T>G, NG_012254.1:g.41145T>G, NM_000693.4:c.*1175T>G, NM_000693.3:c.*1175T>G, NM_000693.2:c.*1175T>G, NM_001293815.2:c.*1175T>G, NM_001293815.1:c.*1175T>G, NR_135831.1:n.1429A>C, NR_135828.1:n.513A>C
7.
rs1485836666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 15:100918993
(GRCh38)
15:101459198
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100918988:GCGCGC:GCGC
- Gene:
- LRRK1 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGC=0.000142/2
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
8.
rs1485660642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:100914256
(GRCh38)
15:101454461
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100914255:C:G
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,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:
9.
rs1484867742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100913686
(GRCh38)
15:101453891
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100913685:C:T
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
10.
rs1483695084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:100915215
(GRCh38)
15:101455420
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100915214:G:A
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000015.10:g.100915215G>A, NC_000015.9:g.101455420G>A, NG_052791.1:g.1199G>A, NG_012254.1:g.40412G>A, NM_000693.4:c.*442G>A, NM_000693.3:c.*442G>A, NM_000693.2:c.*442G>A, NM_001293815.2:c.*442G>A, NM_001293815.1:c.*442G>A, NR_135831.1:n.2162C>T, NR_135828.1:n.1246C>T
11.
rs1480541671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:100913983
(GRCh38)
15:101454188
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100913982:G:A
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
13.
rs1479577897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:100914498
(GRCh38)
15:101454703
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100914497:T:C
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
14.
rs1478887580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:100918830
(GRCh38)
15:101459035
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100918829:C:A,NC_000015.10:100918829:C:T
- Gene:
- LRRK1 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.100918830C>A, NC_000015.10:g.100918830C>T, NC_000015.9:g.101459035C>A, NC_000015.9:g.101459035C>T, NG_052791.1:g.4814C>A, NG_052791.1:g.4814C>T, NR_135827.1:n.454G>T, NR_135827.1:n.454G>A, NR_135831.1:n.454G>T, NR_135831.1:n.454G>A, NR_135828.1:n.454G>T, NR_135828.1:n.454G>A
16.
rs1478688713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:100915903
(GRCh38)
15:101456108
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100915902:C:A
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
NC_000015.10:g.100915903C>A, NC_000015.9:g.101456108C>A, NG_052791.1:g.1887C>A, NG_012254.1:g.41100C>A, NM_000693.4:c.*1130C>A, NM_000693.3:c.*1130C>A, NM_000693.2:c.*1130C>A, NM_001293815.2:c.*1130C>A, NM_001293815.1:c.*1130C>A, NR_135831.1:n.1474G>T, NR_135828.1:n.558G>T
17.
rs1478648255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:100913818
(GRCh38)
15:101454023
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100913817:G:A
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1478597018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:100914953
(GRCh38)
15:101455158
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100914952:G:A
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
NC_000015.10:g.100914953G>A, NC_000015.9:g.101455158G>A, NG_052791.1:g.937G>A, NG_012254.1:g.40150G>A, NM_000693.4:c.*180G>A, NM_000693.3:c.*180G>A, NM_000693.2:c.*180G>A, NM_001293815.2:c.*180G>A, NM_001293815.1:c.*180G>A, NR_135831.1:n.2424C>T, NR_135828.1:n.1508C>T
20.
rs1477615185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:100915413
(GRCh38)
15:101455618
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100915412:C:G,NC_000015.10:100915412:C:T
- Gene:
- ALDH1A3 (Varview), ALDH1A3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.100915413C>G, NC_000015.10:g.100915413C>T, NC_000015.9:g.101455618C>G, NC_000015.9:g.101455618C>T, NG_052791.1:g.1397C>G, NG_052791.1:g.1397C>T, NG_012254.1:g.40610C>G, NG_012254.1:g.40610C>T, NM_000693.4:c.*640C>G, NM_000693.4:c.*640C>T, NM_000693.3:c.*640C>G, NM_000693.3:c.*640C>T, NM_000693.2:c.*640C>G, NM_000693.2:c.*640C>T, NM_001293815.2:c.*640C>G, NM_001293815.2:c.*640C>T, NM_001293815.1:c.*640C>G, NM_001293815.1:c.*640C>T, NR_135831.1:n.1964G>C, NR_135831.1:n.1964G>A, NR_135828.1:n.1048G>C, NR_135828.1:n.1048G>A