Links from Nucleotide
Items: 1 to 20 of 922
1.
rs1490379860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:46622801
(GRCh38)
16:46656713
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46622800:C:T
- Gene:
- SHCBP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489686711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:46624288
(GRCh38)
16:46658200
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46624287:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
3.
rs1489680444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:46624627
(GRCh38)
16:46658539
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46624626:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
4.
rs1489210451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:46624975
(GRCh38)
16:46658887
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46624974:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488156152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:46624151
(GRCh38)
16:46658063
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46624150:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000017/2
(GnomAD)
- HGVS:
6.
rs1487877233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:46626965
(GRCh38)
16:46660877
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46626964:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1487689373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:46623647
(GRCh38)
16:46657559
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46623646:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487365111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G,TGGCGGAAGCATTG
[Show Flanks]
- Chromosome:
- 16:46623237
(GRCh38)
16:46657150
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46623237:G:GG,NC_000016.10:46623237:G:GTGGCGGAAGCATTG
- Gene:
- SHCBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGGCGGAAGCATTG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486400415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:46625367
(GRCh38)
16:46659279
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46625366:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
10.
rs1485986532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:46625743
(GRCh38)
16:46659655
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46625742:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1485614372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:46625349
(GRCh38)
16:46659261
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46625348:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1484415856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:46624543
(GRCh38)
16:46658455
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46624542:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
16.
rs1482386679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:46626214
(GRCh38)
16:46660126
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46626213:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
17.
rs1482149545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:46626982
(GRCh38)
16:46660894
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46626981:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1480674458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:46626191
(GRCh38)
16:46660103
(GRCh37)
- Canonical SPDI:
- NC_000016.10:46626190:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: