Links from Nucleotide
Items: 1 to 20 of 1087
1.
rs1490778145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:76473521
(GRCh38)
7:76102838
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76473520:G:T
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
2.
rs1490687832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:76472309
(GRCh38)
7:76101626
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76472308:G:A,NC_000007.14:76472308:G:T
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
G=0./0
(SGDP_PRJ)
A=0.00035/1
(KOREAN)
- HGVS:
3.
rs1490606062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:76472474
(GRCh38)
7:76101791
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76472473:A:C
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
C=0.000156/1
(1000Genomes)
C=0.000342/1
(KOREAN)
C=0.001092/2
(Korea1K)
C=0.002194/37
(TOMMO)
- HGVS:
4.
rs1490526559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:76471795
(GRCh38)
7:76101112
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76471794:G:A
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490286231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:76474501
(GRCh38)
7:76103818
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76474500:C:G
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_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:
6.
rs1489529560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:76470420
(GRCh38)
7:76099737
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76470419:G:A
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,splice_donor_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00004/3
(GnomAD)
- HGVS:
8.
rs1488933386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:76474004
(GRCh38)
7:76103321
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76474003:C:T
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000048/6
(GnomAD)
- HGVS:
9.
rs1488850097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 7:76471149
(GRCh38)
7:76100466
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76471148:A:C,NC_000007.14:76471148:A:G,NC_000007.14:76471148:A:T
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
T=0.026135/76
(KOREAN)
- HGVS:
11.
rs1487341817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:76470165
(GRCh38)
7:76099482
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76470164:T:C
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
12.
rs1487232592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:76470971
(GRCh38)
7:76100288
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76470970:A:C
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1487185122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:76471511
(GRCh38)
7:76100828
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76471510:G:A
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000014/2
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
14.
rs1486950074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:76471928
(GRCh38)
7:76101245
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76471927:T:C
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1483126383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTCTTTTCTTTT>-
[Show Flanks]
- Chromosome:
- 7:76474214
(GRCh38)
7:76103531
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76474210:TTTCTTTCTTTTCTTTT:TTT
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
18.
rs1482439182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:76474174
(GRCh38)
7:76103491
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76474173:T:A
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1482236677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:76474083
(GRCh38)
7:76103400
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76474082:G:A
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
20.
rs1482145782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:76474543
(GRCh38)
7:76103860
(GRCh37)
- Canonical SPDI:
- NC_000007.14:76474542:G:T
- Gene:
- DTX2 (Varview), FDPSP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: