Links from Gene
Items: 1 to 20 of 1000
1.
rs1491561839 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:70891748
(GRCh38)
6:71601451
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70891747:TT:
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
3.
rs1491363000 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:70864083
(GRCh38)
6:71573786
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70864082:TA:
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000132/2
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
4.
rs1491362007 has merged into rs59066944 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:70895506
(GRCh38)
6:71605209
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70895495:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.70895506_70895522del, NC_000006.12:g.70895507_70895522del, NC_000006.12:g.70895508_70895522del, NC_000006.12:g.70895509_70895522del, NC_000006.12:g.70895510_70895522del, NC_000006.12:g.70895511_70895522del, NC_000006.12:g.70895512_70895522del, NC_000006.12:g.70895513_70895522del, NC_000006.12:g.70895514_70895522del, NC_000006.12:g.70895515_70895522del, NC_000006.12:g.70895516_70895522del, NC_000006.12:g.70895517_70895522del, NC_000006.12:g.70895518_70895522del, NC_000006.12:g.70895519_70895522del, NC_000006.12:g.70895520_70895522del, NC_000006.12:g.70895521_70895522del, NC_000006.12:g.70895522del, NC_000006.12:g.70895522dup, NC_000006.12:g.70895521_70895522dup, NC_000006.12:g.70895520_70895522dup, NC_000006.12:g.70895519_70895522dup, NC_000006.12:g.70895518_70895522dup, NC_000006.12:g.70895517_70895522dup, NC_000006.12:g.70895516_70895522dup, NC_000006.12:g.70895515_70895522dup, NC_000006.12:g.70895514_70895522dup, NC_000006.11:g.71605209_71605225del, NC_000006.11:g.71605210_71605225del, NC_000006.11:g.71605211_71605225del, NC_000006.11:g.71605212_71605225del, NC_000006.11:g.71605213_71605225del, NC_000006.11:g.71605214_71605225del, NC_000006.11:g.71605215_71605225del, NC_000006.11:g.71605216_71605225del, NC_000006.11:g.71605217_71605225del, NC_000006.11:g.71605218_71605225del, NC_000006.11:g.71605219_71605225del, NC_000006.11:g.71605220_71605225del, NC_000006.11:g.71605221_71605225del, NC_000006.11:g.71605222_71605225del, NC_000006.11:g.71605223_71605225del, NC_000006.11:g.71605224_71605225del, NC_000006.11:g.71605225del, NC_000006.11:g.71605225dup, NC_000006.11:g.71605224_71605225dup, NC_000006.11:g.71605223_71605225dup, NC_000006.11:g.71605222_71605225dup, NC_000006.11:g.71605221_71605225dup, NC_000006.11:g.71605220_71605225dup, NC_000006.11:g.71605219_71605225dup, NC_000006.11:g.71605218_71605225dup, NC_000006.11:g.71605217_71605225dup
5.
rs1491331231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TACA,TACACA,TATACA,TATACACA,TATATACA,TATATACACA,TATATACACACA,TATATATACA,TATATATACACA,TATATATACACACA,TATATATATACA,TATATATATACACA,TATATATATATACA,TATATATATATACACA,TATATATATATATACA,TATATATATATATACACA,TATATATATATATATACA,TATATATATATATATACACA,TATATATATATATATATACA,TATATATATATATATATATACACA
[Show Flanks]
- Chromosome:
- 6:70902637
(GRCh38)
6:71612341
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70902637:A:ATACA,NC_000006.12:70902637:A:ATACACA,NC_000006.12:70902637:A:ATATACA,NC_000006.12:70902637:A:ATATACACA,NC_000006.12:70902637:A:ATATATACA,NC_000006.12:70902637:A:ATATATACACA,NC_000006.12:70902637:A:ATATATACACACA,NC_000006.12:70902637:A:ATATATATACA,NC_000006.12:70902637:A:ATATATATACACA,NC_000006.12:70902637:A:ATATATATACACACA,NC_000006.12:70902637:A:ATATATATATACA,NC_000006.12:70902637:A:ATATATATATACACA,NC_000006.12:70902637:A:ATATATATATATACA,NC_000006.12:70902637:A:ATATATATATATACACA,NC_000006.12:70902637:A:ATATATATATATATACA,NC_000006.12:70902637:A:ATATATATATATATACACA,NC_000006.12:70902637:A:ATATATATATATATATACA,NC_000006.12:70902637:A:ATATATATATATATATACACA,NC_000006.12:70902637:A:ATATATATATATATATATACA,NC_000006.12:70902637:A:ATATATATATATATATATATACACA
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.70902638_70902639insTACA, NC_000006.12:g.70902638_70902639insTACACA, NC_000006.12:g.70902638AT[2]ACA[1], NC_000006.12:g.70902638AT[2]AC[2]A[1], NC_000006.12:g.70902638AT[3]ACA[1], NC_000006.12:g.70902638AT[3]AC[2]A[1], NC_000006.12:g.70902638AT[3]AC[3]A[1], NC_000006.12:g.70902638AT[4]ACA[1], NC_000006.12:g.70902638AT[4]AC[2]A[1], NC_000006.12:g.70902638AT[4]AC[3]A[1], NC_000006.12:g.70902638AT[5]ACA[1], NC_000006.12:g.70902638AT[5]AC[2]A[1], NC_000006.12:g.70902638AT[6]ACA[1], NC_000006.12:g.70902638AT[6]AC[2]A[1], NC_000006.12:g.70902638AT[7]ACA[1], NC_000006.12:g.70902638AT[7]AC[2]A[1], NC_000006.12:g.70902638AT[8]ACA[1], NC_000006.12:g.70902638AT[8]AC[2]A[1], NC_000006.12:g.70902638AT[9]ACA[1], NC_000006.12:g.70902638AT[10]AC[2]A[1], NC_000006.11:g.71612341_71612342insTACA, NC_000006.11:g.71612341_71612342insTACACA, NC_000006.11:g.71612341AT[2]ACA[1], NC_000006.11:g.71612341AT[2]AC[2]A[1], NC_000006.11:g.71612341AT[3]ACA[1], NC_000006.11:g.71612341AT[3]AC[2]A[1], NC_000006.11:g.71612341AT[3]AC[3]A[1], NC_000006.11:g.71612341AT[4]ACA[1], NC_000006.11:g.71612341AT[4]AC[2]A[1], NC_000006.11:g.71612341AT[4]AC[3]A[1], NC_000006.11:g.71612341AT[5]ACA[1], NC_000006.11:g.71612341AT[5]AC[2]A[1], NC_000006.11:g.71612341AT[6]ACA[1], NC_000006.11:g.71612341AT[6]AC[2]A[1], NC_000006.11:g.71612341AT[7]ACA[1], NC_000006.11:g.71612341AT[7]AC[2]A[1], NC_000006.11:g.71612341AT[8]ACA[1], NC_000006.11:g.71612341AT[8]AC[2]A[1], NC_000006.11:g.71612341AT[9]ACA[1], NC_000006.11:g.71612341AT[10]AC[2]A[1]
7.
rs1491158001 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:70895495
(GRCh38)
6:71605198
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70895494:AT:
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00167/47
(TOMMO)
- HGVS:
8.
rs1491129005 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 6:70895522
(GRCh38)
6:71605225
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70895521:TG:
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02074/246
(
ALFA)
-=0.00158/127
(GnomAD)
-=0.00341/96
(TOMMO)
- HGVS:
9.
rs1491082923 has merged into rs3034203 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- 6:70897685
(GRCh38)
6:71607388
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70897670:ATATATATATATATATATAT:ATATATATATATAT,NC_000006.12:70897670:ATATATATATATATATATAT:ATATATATATATATAT,NC_000006.12:70897670:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000006.12:70897670:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000006.12:70897670:ATATATATATATATATATAT:ATATATATATATATATATATATAT
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATAT=0./0
(
ALFA)
-=0.1054/391
(TWINSUK)
-=0.1362/525
(ALSPAC)
ATAT=0.236/1182
(1000Genomes)
- HGVS:
10.
rs1491037942 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:70864060
(GRCh38)
6:71573764
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70864060:CTTTTTTTTTTTTTTTTTTTTTT:CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT=0.0002/1
(
ALFA)
- HGVS:
12.
rs1490946069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:70923082
(GRCh38)
6:71632785
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70923081:T:C
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
13.
rs1490920913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:70952624
(GRCh38)
6:71662327
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70952623:C:T
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490909282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:70870433
(GRCh38)
6:71580136
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70870432:C:G,NC_000006.12:70870432:C:T
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.002342/15
(1000Genomes)
- HGVS:
15.
rs1490877432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:70938601
(GRCh38)
6:71648304
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70938600:A:G,NC_000006.12:70938600:A:T
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000057/8
(GnomAD)
- HGVS:
16.
rs1490874059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 6:70885138
(GRCh38)
6:71594841
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70885137:A:C,NC_000006.12:70885137:A:T
- Gene:
- B3GAT2 (Varview), LOC105377850 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
17.
rs1490834373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGTCT>-
[Show Flanks]
- Chromosome:
- 6:70862225
(GRCh38)
6:71571928
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70862223:TAGTCT:T
- Gene:
- SMAP1 (Varview), B3GAT2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
18.
rs1490830737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:70925890
(GRCh38)
6:71635593
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70925889:C:T
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490826947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:70947662
(GRCh38)
6:71657365
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70947661:A:G
- Gene:
- B3GAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490822629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:70861945
(GRCh38)
6:71571648
(GRCh37)
- Canonical SPDI:
- NC_000006.12:70861944:T:C
- Gene:
- SMAP1 (Varview), B3GAT2 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000047/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.70861945T>C, NC_000006.11:g.71571648T>C, NM_021940.5:c.*1611T>C, NM_021940.4:c.*1611T>C, NM_080742.3:c.770A>G, NM_080742.2:c.770A>G, NM_001044305.3:c.*1611T>C, NM_001044305.2:c.*1611T>C, NM_001281439.2:c.*1711T>C, NM_001281439.1:c.*1711T>C, XM_047419227.1:c.*1611T>C, NM_001281440.1:c.*1611T>C, XM_047419228.1:c.*1611T>C, XM_047419229.1:c.*1611T>C, XM_047418209.1:c.770A>G, NP_542780.1:p.Asn257Ser, XP_047274165.1:p.Asn257Ser