Links from Nucleotide
Items: 1 to 20 of 499
1.
rs1490099404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:60547163
(GRCh38)
5:59842990
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60547162:G:A
- Gene:
- PART1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489886125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:60488403
(GRCh38)
5:59784230
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60488402:G:A
- Gene:
- PDE4D (Varview), PART1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488714516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:60533976
(GRCh38)
5:59829803
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60533975:C:A
- Gene:
- PART1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488692424 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:60487941
(GRCh38)
5:59783769
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60487941:A:AA
- Gene:
- PDE4D (Varview), PART1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.60487942dup, NC_000005.9:g.59783769dup, NG_027957.2:g.41388dup, NM_001349241.2:c.-193dup, NM_001349241.1:c.-193dup, NM_001165899.2:c.-90dup, NM_001165899.1:c.-90dup, NM_001349243.2:c.-674dup, NM_001349243.1:c.-674dup, NM_016590.2:c.-12dup, XM_047417294.1:c.-340dup, XM_047417295.1:c.-342dup, XM_017009566.1:c.-138dup, NR_028509.1:n.11dup, NR_024617.1:n.230dup, NR_028508.1:n.11dup, NM_016590.1:c.-12dup, NM_001040639.1:c.-12dup, NM_001039499.1:c.-12dup, XM_047417300.1:c.-90dup
5.
rs1487705137 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 5:60546404
(GRCh38)
5:59842231
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60546403:TG:
- Gene:
- PART1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000106/2
(TOMMO)
- HGVS:
6.
rs1487621939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:60487996
(GRCh38)
5:59783823
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60487995:T:A
- Gene:
- PDE4D (Varview), PART1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000005.10:g.60487996T>A, NC_000005.9:g.59783823T>A, NG_027957.2:g.41334A>T, NM_001349241.2:c.-247A>T, NM_001349241.1:c.-247A>T, NM_001165899.2:c.-144A>T, NM_001165899.1:c.-144A>T, NM_001349243.2:c.-728A>T, NM_001349243.1:c.-728A>T, NM_016590.2:c.43T>A, XM_047417294.1:c.-394A>T, XM_047417295.1:c.-396A>T, XM_017009566.1:c.-193A>T, NR_028509.1:n.65T>A, NR_024617.1:n.284T>A, NR_028508.1:n.65T>A, NM_016590.1:c.43T>A, NM_001040639.1:c.43T>A, NM_001039499.1:c.43T>A, XM_047417300.1:c.-144A>T
7.
rs1483644535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:60546210
(GRCh38)
5:59842037
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60546209:T:G
- Gene:
- PART1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479987554 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 5:60547268
(GRCh38)
5:59843095
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60547267:T:
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
9.
rs1479784019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:60487969
(GRCh38)
5:59783796
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60487968:T:C
- Gene:
- PDE4D (Varview), PART1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.60487969T>C, NC_000005.9:g.59783796T>C, NG_027957.2:g.41361A>G, NM_001349241.2:c.-220A>G, NM_001349241.1:c.-220A>G, NM_001165899.2:c.-117A>G, NM_001165899.1:c.-117A>G, NM_001349243.2:c.-701A>G, NM_001349243.1:c.-701A>G, NM_016590.2:c.16T>C, XM_047417294.1:c.-367A>G, XM_047417295.1:c.-369A>G, XM_017009566.1:c.-166A>G, NR_028509.1:n.38T>C, NR_024617.1:n.257T>C, NR_028508.1:n.38T>C, NM_016590.1:c.16T>C, NM_001040639.1:c.16T>C, NM_001039499.1:c.16T>C, XM_047417300.1:c.-117A>G
10.
rs1476808254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:60529404
(GRCh38)
5:59825231
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60529403:C:A
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1476708274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:60546134
(GRCh38)
5:59841961
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60546133:T:C
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1476474981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:60547381
(GRCh38)
5:59843208
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60547380:C:T
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1476235028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:60529468
(GRCh38)
5:59825295
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60529467:T:C
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_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:
14.
rs1475498741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 5:60487931
(GRCh38)
5:59783758
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60487930:G:C,NC_000005.10:60487930:G:T
- Gene:
- PDE4D (Varview), PART1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1468480575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:60533996
(GRCh38)
5:59829823
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60533995:T:G
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1466306296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:60488066
(GRCh38)
5:59783893
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60488065:G:A
- Gene:
- PDE4D (Varview), PART1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.60488066G>A, NC_000005.9:g.59783893G>A, NG_027957.2:g.41264C>T, NM_016590.2:c.113G>A, NM_001349241.1:c.-317C>T, NM_001165899.1:c.-214C>T, NM_001349243.1:c.-798C>T, NR_028509.1:n.135G>A, NR_024617.1:n.354G>A, NR_028508.1:n.135G>A, NM_016590.1:c.113G>A, NM_001040639.1:c.113G>A, NM_001039499.1:c.113G>A
19.
rs1463298468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:60547199
(GRCh38)
5:59843026
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60547198:G:C
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1461606683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:60529475
(GRCh38)
5:59825302
(GRCh37)
- Canonical SPDI:
- NC_000005.10:60529474:G:A,NC_000005.10:60529474:G:T
- Gene:
- PART1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: