Links from Nucleotide
Items: 1 to 20 of 220
1.
rs1488475934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:14024721
(GRCh38)
17:13928038
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024720:C:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1485011235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:14024586
(GRCh38)
17:13927903
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024585:C:G,NC_000017.11:14024585:C:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000015/2
(GnomAD)
- HGVS:
4.
rs1478186828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14024583
(GRCh38)
17:13927900
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024582:T:C
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.003001/49
(
ALFA)
C=0.001298/163
(GnomAD)
C=0.012861/212
(TOMMO)
C=0.05303/154
(KOREAN)
T=0.428571/6
(SGDP_PRJ)
- HGVS:
5.
rs1474752500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:14025092
(GRCh38)
17:13928409
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14025091:C:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1472815848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14025203
(GRCh38)
17:13928520
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14025202:T:C
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000226/1
(
ALFA)
C=0.00002/2
(GnomAD)
- HGVS:
8.
rs1466028710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:14024925
(GRCh38)
17:13928242
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024924:C:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00084/10
(
ALFA)
T=0.0025/16
(1000Genomes)
C=0.5/3
(SGDP_PRJ)
- HGVS:
9.
rs1464550576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:14025252
(GRCh38)
17:13928569
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14025251:G:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000199/3
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00003/3
(GnomAD)
- HGVS:
12.
rs1459069651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:14024992
(GRCh38)
17:13928309
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024991:C:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000015/2
(GnomAD)
- HGVS:
13.
rs1450834725 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGCATGGATGCGGGTCCA
[Show Flanks]
- Chromosome:
- 17:14025414
(GRCh38)
17:13928732
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14025414:TCCAGGCATGGATGCGGGTCCA:TCCAGGCATGGATGCGGGTCCAGGCATGGATGCGGGTCCA
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCCAGGCATGGATGCGGGTCCAGGCATGGATGCGGGTCCA=0./0
(
ALFA)
- HGVS:
14.
rs1450119996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:14024874
(GRCh38)
17:13928191
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024873:A:C
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1448208793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:14025251
(GRCh38)
17:13928568
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14025250:A:T
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
T=0.000349/1
(KOREAN)
T=0.000468/3
(1000Genomes)
T=0.004855/79
(TOMMO)
- HGVS:
17.
rs1435904322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14024979
(GRCh38)
17:13928296
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024978:T:C
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000015/2
(GnomAD)
- HGVS:
18.
rs1432904383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:14024562
(GRCh38)
17:13927879
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024561:G:A,NC_000017.11:14024561:G:C
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1432836328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:14024557
(GRCh38)
17:13927874
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14024556:G:A
- Gene:
- CDRT15P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: