Links from Nucleotide
Items: 1 to 20 of 700
2.
rs1490744199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:86555383
(GRCh38)
16:86588989
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555382:A:G
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000448/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00067/3
(Estonian)
- HGVS:
3.
rs1488128054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:86556523
(GRCh38)
16:86590129
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556522:C:T
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_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:
4.
rs1486201394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:86555596
(GRCh38)
16:86589202
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555595:A:C
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000008/1
(GnomAD_exomes)
- HGVS:
5.
rs1485980510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:86556364
(GRCh38)
16:86589970
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556363:G:A
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1481875577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:86555829
(GRCh38)
16:86589435
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555828:G:C
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1481614983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:86555749
(GRCh38)
16:86589355
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555748:C:T
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
8.
rs1480438892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:86555755
(GRCh38)
16:86589361
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555754:G:A,NC_000016.10:86555754:G:C
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1479604710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:86556458
(GRCh38)
16:86590064
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556457:A:C
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1475935046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:86555820
(GRCh38)
16:86589426
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555819:C:G
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1475013677 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 16:86556777
(GRCh38)
16:86590383
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556776:G:
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1474864207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:86557013
(GRCh38)
16:86590619
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86557012:C:A
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1472540381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:86556118
(GRCh38)
16:86589724
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556117:A:G
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000071/1
(TOMMO)
- HGVS:
15.
rs1471400524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 16:86556222
(GRCh38)
16:86589828
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556221:C:A,NC_000016.10:86556221:C:G
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1470050110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:86555700
(GRCh38)
16:86589306
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555699:G:T
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
17.
rs1469831790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:86556601
(GRCh38)
16:86590207
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556600:T:G
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1468947021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:86555766
(GRCh38)
16:86589372
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555765:C:T
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
T=0.000106/2
(TOMMO)
- HGVS:
19.
rs1468879797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:86555889
(GRCh38)
16:86589495
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86555888:C:T
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1467542123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:86556232
(GRCh38)
16:86589838
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86556231:C:A
- Gene:
- MTHFSD (Varview), FLJ30679 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS: