Links from Gene
Items: 1 to 20 of 13963
1.
rs1491559511 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:116080879
(GRCh38)
1:116623501
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116080879::C
- Validated:
- by frequency,by cluster
- MAF:
C=0.00004/1
(TOMMO)
C=0.00014/11
(GnomAD)
- HGVS:
2.
rs1491485989 has merged into rs144386822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA
[Show Flanks]
- Chromosome:
- 1:116120458
(GRCh38)
1:116663079
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116120448:ATATATATATA:ATATATATA,NC_000001.11:116120448:ATATATATATA:ATATATATATATA,NC_000001.11:116120448:ATATATATATA:ATATATATATATATA
- Gene:
- MAB21L3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATA=0./0
(
ALFA)
AT=0.00012/2
(TOMMO)
-=0.0027/10
(TWINSUK)
AT=0.00382/7
(Korea1K)
-=0.00701/27
(ALSPAC)
- HGVS:
3.
rs1491462492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 1:116080880
(GRCh38)
1:116623501
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116080878:TTT:T,NC_000001.11:116080878:TTT:TTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00025/3
(
ALFA)
-=0.05048/809
(TOMMO)
-=0.055/33
(NorthernSweden)
- HGVS:
4.
rs1491445899 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:116081693
(GRCh38)
1:116624314
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116081692:AT:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
5.
rs1491363514 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:116120432
(GRCh38)
1:116663053
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116120430:AAA:A
- Gene:
- MAB21L3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000283/8
(TOMMO)
-=0.001068/127
(GnomAD)
- HGVS:
6.
rs1491329663 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 1:116080884
(GRCh38)
1:116623505
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116080882:TTT:T,NC_000001.11:116080882:TTT:TTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00487/54
(
ALFA)
-=0.05667/34
(NorthernSweden)
-=0.08273/1319
(TOMMO)
- HGVS:
8.
rs1491216957 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:116080888
(GRCh38)
1:116623509
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116080886:TTT:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00717/85
(
ALFA)
-=0.00647/635
(GnomAD)
-=0.0247/406
(TOMMO)
-=0.02679/48
(Korea1K)
- HGVS:
9.
rs1491119617 has merged into rs35799148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:116117177
(GRCh38)
1:116659798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116117162:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- MAB21L3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATAT=0./0
(
ALFA)
-=0.15/6
(GENOME_DK)
- HGVS:
NC_000001.11:g.116117163AT[7], NC_000001.11:g.116117163AT[8], NC_000001.11:g.116117163AT[9], NC_000001.11:g.116117163AT[10], NC_000001.11:g.116117163AT[11], NC_000001.11:g.116117163AT[12], NC_000001.11:g.116117163AT[13], NC_000001.11:g.116117163AT[14], NC_000001.11:g.116117163AT[16], NC_000001.11:g.116117163AT[17], NC_000001.11:g.116117163AT[18], NC_000001.11:g.116117163AT[19], NC_000001.11:g.116117163AT[20], NC_000001.11:g.116117163AT[21], NC_000001.11:g.116117163AT[22], NC_000001.11:g.116117163AT[23], NC_000001.11:g.116117163AT[24], NC_000001.11:g.116117163AT[25], NC_000001.11:g.116117163AT[26], NC_000001.11:g.116117163AT[27], NC_000001.11:g.116117163AT[28], NC_000001.11:g.116117163AT[29], NC_000001.10:g.116659784AT[7], NC_000001.10:g.116659784AT[8], NC_000001.10:g.116659784AT[9], NC_000001.10:g.116659784AT[10], NC_000001.10:g.116659784AT[11], NC_000001.10:g.116659784AT[12], NC_000001.10:g.116659784AT[13], NC_000001.10:g.116659784AT[14], NC_000001.10:g.116659784AT[16], NC_000001.10:g.116659784AT[17], NC_000001.10:g.116659784AT[18], NC_000001.10:g.116659784AT[19], NC_000001.10:g.116659784AT[20], NC_000001.10:g.116659784AT[21], NC_000001.10:g.116659784AT[22], NC_000001.10:g.116659784AT[23], NC_000001.10:g.116659784AT[24], NC_000001.10:g.116659784AT[25], NC_000001.10:g.116659784AT[26], NC_000001.10:g.116659784AT[27], NC_000001.10:g.116659784AT[28], NC_000001.10:g.116659784AT[29]
10.
rs1491069288 has merged into rs34275713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 1:116096621
(GRCh38)
1:116639242
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116096608:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:116096608:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:116096608:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:116096608:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:116096608:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.00667/4
(NorthernSweden)
T=0.01278/64
(1000Genomes)
-=0.175/7
(GENOME_DK)
- HGVS:
11.
rs1491065335 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:116126271
(GRCh38)
1:116668892
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116126270:CT:
- Gene:
- MAB21L3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000246/65
(TOPMED)
-=0.000371/52
(GnomAD)
- HGVS:
13.
rs1491009954 has merged into rs1553229428 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:116101612
(GRCh38)
1:116644233
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:116101600:TATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.116101602AT[5], NC_000001.11:g.116101602AT[6], NC_000001.11:g.116101602AT[7], NC_000001.11:g.116101602AT[8], NC_000001.11:g.116101602AT[9], NC_000001.11:g.116101602AT[10], NC_000001.11:g.116101602AT[12], NC_000001.11:g.116101602AT[13], NC_000001.11:g.116101602AT[15], NC_000001.11:g.116101602AT[19], NC_000001.11:g.116101602AT[20], NC_000001.11:g.116101602AT[21], NC_000001.10:g.116644223AT[5], NC_000001.10:g.116644223AT[6], NC_000001.10:g.116644223AT[7], NC_000001.10:g.116644223AT[8], NC_000001.10:g.116644223AT[9], NC_000001.10:g.116644223AT[10], NC_000001.10:g.116644223AT[12], NC_000001.10:g.116644223AT[13], NC_000001.10:g.116644223AT[15], NC_000001.10:g.116644223AT[19], NC_000001.10:g.116644223AT[20], NC_000001.10:g.116644223AT[21]
14.
rs1490982057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:116135428
(GRCh38)
1:116678049
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116135427:G:A
- Gene:
- MAB21L3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490916100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116092619
(GRCh38)
1:116635240
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116092618:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
16.
rs1490900320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116095252
(GRCh38)
1:116637873
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116095251:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490863918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:116090500
(GRCh38)
1:116633121
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116090499:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000193/3
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.000314/44
(GnomAD)
T=0.00067/3
(Estonian)
T=0.003333/2
(NorthernSweden)
- HGVS:
18.
rs1490863392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:116080053
(GRCh38)
1:116622674
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116080052:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490855951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116110634
(GRCh38)
1:116653255
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116110633:C:A
- Gene:
- MAB21L3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490845238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:116094851
(GRCh38)
1:116637472
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116094850:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: