Links from Nucleotide
Items: 1 to 20 of 438
1.
rs1487118542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:71098169
(GRCh38)
17:69094310
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098168:C:T
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
2.
rs1487032114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 17:71098239
(GRCh38)
17:69094380
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098238:T:C,NC_000017.11:71098238:T:G
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486405023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:71098523
(GRCh38)
17:69094664
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098522:A:C,NC_000017.11:71098522:A:G
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1486274494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 17:71099127
(GRCh38)
17:69095268
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71099126:T:C,NC_000017.11:71099126:T:G
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
5.
rs1485518384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:71099080
(GRCh38)
17:69095221
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71099079:T:A
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1483465396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:71098399
(GRCh38)
17:69094540
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098398:A:G
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1477144533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:71098948
(GRCh38)
17:69095089
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098947:A:G
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- 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:
10.
rs1475027262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:71098797
(GRCh38)
17:69094938
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098796:G:A
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- 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:
12.
rs1472550080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:71097996
(GRCh38)
17:69094137
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71097995:G:A
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- 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:
13.
rs1468373869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:71098379
(GRCh38)
17:69094520
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098378:A:G
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- 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:
14.
rs1467450076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:71098223
(GRCh38)
17:69094364
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098222:CCCC:CCC
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0.000108/2
(
ALFA)
-=0.000057/15
(TOPMED)
-=0.000071/10
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
15.
rs1466520183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:71097941
(GRCh38)
17:69094082
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71097940:G:A
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
17.
rs1463529167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:71098356
(GRCh38)
17:69094497
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098355:C:A
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1462717084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:71098692
(GRCh38)
17:69094833
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098691:T:A
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- 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:
19.
rs1462193672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:71098243
(GRCh38)
17:69094384
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71098242:T:C
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1460831520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:71132396
(GRCh38)
17:69128537
(GRCh37)
- Canonical SPDI:
- NC_000017.11:71132395:T:C
- Gene:
- CASC17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000106/3
(TOMMO)
C=0.001092/2
(Korea1K)
- HGVS: