Links from Nucleotide
Items: 1 to 20 of 105
1.
rs1488393145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:15470474
(GRCh38)
17:15373788
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470473:C:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1483019211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:15470544
(GRCh38)
17:15373858
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470543:G:A,NC_000017.11:15470543:G:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1478662724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:15470758
(GRCh38)
17:15374072
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470757:T:G
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1465433729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:15470323
(GRCh38)
17:15373637
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470322:C:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1462398811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:15470358
(GRCh38)
17:15373672
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470357:C:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1451459065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:15470786
(GRCh38)
17:15374100
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470785:G:A
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1446019680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:15470506
(GRCh38)
17:15373820
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470505:A:C,NC_000017.11:15470505:A:G
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0.00018/3
(TOMMO)
G=0.00137/4
(KOREAN)
- HGVS:
8.
rs1441088032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:15470531
(GRCh38)
17:15373845
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470530:A:C
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1432742431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:15470656
(GRCh38)
17:15373970
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470655:A:G
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
11.
rs1430361477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:15470473
(GRCh38)
17:15373787
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470472:C:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1428638668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:15470345
(GRCh38)
17:15373659
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470344:G:A
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1407979434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:15470316
(GRCh38)
17:15373630
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470315:G:A
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
14.
rs1406222755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:15470693
(GRCh38)
17:15374007
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470692:C:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
15.
rs1403185555 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAT>-
[Show Flanks]
- Chromosome:
- 17:15470716
(GRCh38)
17:15374030
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470712:AATAAT:AAT
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1390963970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:15470623
(GRCh38)
17:15373937
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470622:A:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1385537655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:15470517
(GRCh38)
17:15373831
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470516:G:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1375916148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:15470326
(GRCh38)
17:15373640
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470325:T:G
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1349788324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:15470673
(GRCh38)
17:15373987
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470672:C:T
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- 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:
20.
rs1349491626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:15470630
(GRCh38)
17:15373944
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15470629:G:A
- Gene:
- CDRT3 (Varview), TVP23C-CDRT4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: