Links from Nucleotide
Items: 1 to 20 of 616
1.
rs1489849141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAAA>-
[Show Flanks]
- Chromosome:
- 2:39599550
(GRCh38)
2:39826690
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39599546:AAATAAA:AAA
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488037957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:39599948
(GRCh38)
2:39827088
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39599947:A:G
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
3.
rs1487613636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:39599377
(GRCh38)
2:39826517
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39599376:A:G
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
4.
rs1487559675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:39600468
(GRCh38)
2:39827608
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39600467:C:T
- Gene:
- MAP4K3-DT (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=0.000007/1
(GnomAD)
- HGVS:
6.
rs1485227456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:39437437
(GRCh38)
2:39664578
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39437436:C:T
- Gene:
- MAP4K3 (Varview), MAP4K3-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
7.
rs1482575975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:39601276
(GRCh38)
2:39828416
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39601275:G:A
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
9.
rs1480957570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:39600371
(GRCh38)
2:39827511
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39600370:G:A,NC_000002.12:39600370:G:C
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1480408038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:39601325
(GRCh38)
2:39828465
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39601324:C:A
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
11.
rs1477144863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:39600525
(GRCh38)
2:39827665
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39600524:A:G
- Gene:
- MAP4K3-DT (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:
12.
rs1477035296 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:39599450
(GRCh38)
2:39826590
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39599449:TTTT:TTT
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000142/2
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
13.
rs1476949924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:39599841
(GRCh38)
2:39826981
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39599840:A:G
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1476899226 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 2:39600880
(GRCh38)
2:39828020
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39600879:AA:
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1476474085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAA>-
[Show Flanks]
- Chromosome:
- 2:39599557
(GRCh38)
2:39826697
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39599554:AACAA:AA
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
16.
rs1475836416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:39518628
(GRCh38)
2:39745769
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39518627:A:C
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1475497697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:39600022
(GRCh38)
2:39827162
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39600021:C:T
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1472912517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:39437479
(GRCh38)
2:39664620
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39437478:A:G,NC_000002.12:39437478:A:T
- Gene:
- MAP4K3 (Varview), MAP4K3-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
19.
rs1472163945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:39601132
(GRCh38)
2:39828272
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39601131:A:G
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
20.
rs1472100113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:39516437
(GRCh38)
2:39743578
(GRCh37)
- Canonical SPDI:
- NC_000002.12:39516436:A:G
- Gene:
- MAP4K3-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: