Links from Gene
Items: 1 to 20 of 3661
1.
rs1490692463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240898365
(GRCh38)
2:241837782
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240898364:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490685014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:240886317
(GRCh38)
2:241825734
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240886316:C:G
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000002.12:g.240886317C>G, NC_000002.11:g.241825734C>G, NM_024861.4:c.*753G>C, NM_024861.3:c.*753G>C, NM_024861.2:c.*753G>C, NM_001085437.3:c.*753G>C, NM_001085437.2:c.*753G>C, NM_001085437.1:c.*753G>C, XM_011511877.2:c.*753G>C, XM_011511877.1:c.*753G>C, NM_001282921.2:c.*753G>C, NM_001282921.1:c.*753G>C
3.
rs1490644465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:240890865
(GRCh38)
2:241830282
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240890864:C:T
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
4.
rs1490636030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:240886362
(GRCh38)
2:241825779
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240886361:C:T
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000002.12:g.240886362C>T, NC_000002.11:g.241825779C>T, NM_024861.4:c.*708G>A, NM_024861.3:c.*708G>A, NM_024861.2:c.*708G>A, NM_001085437.3:c.*708G>A, NM_001085437.2:c.*708G>A, NM_001085437.1:c.*708G>A, XM_011511877.2:c.*708G>A, XM_011511877.1:c.*708G>A, NM_001282921.2:c.*708G>A, NM_001282921.1:c.*708G>A
5.
rs1489612931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240896638
(GRCh38)
2:241836055
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240896637:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1489315016 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCA>-
[Show Flanks]
- Chromosome:
- 2:240887575
(GRCh38)
2:241826992
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240887572:CATCTCA:CA
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488200867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:240898605
(GRCh38)
2:241838022
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240898604:T:C
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1488200427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240892483
(GRCh38)
2:241831900
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240892482:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000045/12
(TOPMED)
- HGVS:
11.
rs1488057545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240892379
(GRCh38)
2:241831796
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240892378:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
12.
rs1487798490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240895514
(GRCh38)
2:241834931
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240895513:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.000009/2
(GnomAD_exomes)
A=0.000064/9
(GnomAD)
A=0.000076/20
(TOPMED)
- HGVS:
13.
rs1487337397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240898791
(GRCh38)
2:241838208
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240898790:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1487323975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:240886858
(GRCh38)
2:241826275
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240886857:C:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.240886858C>A, NC_000002.11:g.241826275C>A, NM_024861.4:c.*212G>T, NM_024861.3:c.*212G>T, NM_024861.2:c.*212G>T, NM_001085437.3:c.*212G>T, NM_001085437.2:c.*212G>T, NM_001085437.1:c.*212G>T, XM_011511877.2:c.*212G>T, XM_011511877.1:c.*212G>T, NM_001282921.2:c.*212G>T, NM_001282921.1:c.*212G>T
15.
rs1487085175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:240892935
(GRCh38)
2:241832352
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240892934:T:G
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_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:
16.
rs1486962841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:240885579
(GRCh38)
2:241824996
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240885578:T:C
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1486766621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:240894885
(GRCh38)
2:241834302
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240894884:C:T
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
18.
rs1486665578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:240895464
(GRCh38)
2:241834881
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240895463:A:C
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486168582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:240887244
(GRCh38)
2:241826661
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240887243:G:A
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485781266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:240894333
(GRCh38)
2:241833750
(GRCh37)
- Canonical SPDI:
- NC_000002.12:240894332:G:A,NC_000002.12:240894332:G:C
- Gene:
- MAB21L4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: