Links from Gene
Items: 1 to 20 of 1000
1.
rs1491522322 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:87494074
(GRCh38)
6:88203792
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87494073:CT:
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00004/4
(GnomAD)
- HGVS:
2.
rs1491454302 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:87497091
(GRCh38)
6:88206809
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87497089:TCT:T
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
3.
rs1491454210 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTG
[Show Flanks]
- Chromosome:
- 6:87512174
(GRCh38)
6:88221893
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87512174::TTG
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
TTG=0.000021/3
(GnomAD)
- HGVS:
5.
rs1491339594 has merged into rs59459204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:87492556
(GRCh38)
6:88202274
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:87492545:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.491/2459
(1000Genomes)
- HGVS:
NC_000006.12:g.87492556_87492564del, NC_000006.12:g.87492559_87492564del, NC_000006.12:g.87492560_87492564del, NC_000006.12:g.87492561_87492564del, NC_000006.12:g.87492562_87492564del, NC_000006.12:g.87492563_87492564del, NC_000006.12:g.87492564del, NC_000006.12:g.87492564dup, NC_000006.12:g.87492563_87492564dup, NC_000006.12:g.87492562_87492564dup, NC_000006.12:g.87492560_87492564dup, NC_000006.12:g.87492559_87492564dup, NC_000006.12:g.87492558_87492564dup, NC_000006.12:g.87492555_87492564dup, NC_000006.12:g.87492554_87492564dup, NC_000006.12:g.87492548_87492564dup, NC_000006.12:g.87492564_87492565insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.87492564_87492565insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.87492564_87492565insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88202274_88202282del, NC_000006.11:g.88202277_88202282del, NC_000006.11:g.88202278_88202282del, NC_000006.11:g.88202279_88202282del, NC_000006.11:g.88202280_88202282del, NC_000006.11:g.88202281_88202282del, NC_000006.11:g.88202282del, NC_000006.11:g.88202282dup, NC_000006.11:g.88202281_88202282dup, NC_000006.11:g.88202280_88202282dup, NC_000006.11:g.88202278_88202282dup, NC_000006.11:g.88202277_88202282dup, NC_000006.11:g.88202276_88202282dup, NC_000006.11:g.88202273_88202282dup, NC_000006.11:g.88202272_88202282dup, NC_000006.11:g.88202266_88202282dup, NC_000006.11:g.88202282_88202283insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88202282_88202283insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.88202282_88202283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016207.1:g.24632_24640del, NG_016207.1:g.24635_24640del, NG_016207.1:g.24636_24640del, NG_016207.1:g.24637_24640del, NG_016207.1:g.24638_24640del, NG_016207.1:g.24639_24640del, NG_016207.1:g.24640del, NG_016207.1:g.24640dup, NG_016207.1:g.24639_24640dup, NG_016207.1:g.24638_24640dup, NG_016207.1:g.24636_24640dup, NG_016207.1:g.24635_24640dup, NG_016207.1:g.24634_24640dup, NG_016207.1:g.24631_24640dup, NG_016207.1:g.24630_24640dup, NG_016207.1:g.24624_24640dup, NG_016207.1:g.24640_24641insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016207.1:g.24640_24641insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016207.1:g.24640_24641insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491234364 has merged into rs71018023 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 6:87494082
(GRCh38)
6:88203800
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:87494074:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.0937/361
(ALSPAC)
-=0.24/658
(1000Genomes)
- HGVS:
NC_000006.12:g.87494082_87494087del, NC_000006.12:g.87494083_87494087del, NC_000006.12:g.87494084_87494087del, NC_000006.12:g.87494085_87494087del, NC_000006.12:g.87494086_87494087del, NC_000006.12:g.87494087del, NC_000006.12:g.87494087dup, NC_000006.12:g.87494086_87494087dup, NC_000006.11:g.88203800_88203805del, NC_000006.11:g.88203801_88203805del, NC_000006.11:g.88203802_88203805del, NC_000006.11:g.88203803_88203805del, NC_000006.11:g.88203804_88203805del, NC_000006.11:g.88203805del, NC_000006.11:g.88203805dup, NC_000006.11:g.88203804_88203805dup, NG_016207.1:g.26158_26163del, NG_016207.1:g.26159_26163del, NG_016207.1:g.26160_26163del, NG_016207.1:g.26161_26163del, NG_016207.1:g.26162_26163del, NG_016207.1:g.26163del, NG_016207.1:g.26163dup, NG_016207.1:g.26162_26163dup
8.
rs1491218756 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:87470989
(GRCh38)
6:88180707
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87470988:AT:
- Gene:
- SLC35A1 (Varview), LOC124901357 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.000071/1
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
9.
rs1491185925 has merged into rs886061819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT
[Show Flanks]
- Chromosome:
- 6:87512047
(GRCh38)
6:88221765
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87512045:TGTGT:T,NC_000006.12:87512045:TGTGT:TGT
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.000422/5
(
ALFA)
-=0.000259/1
(ALSPAC)
-=0.000425/44
(GnomAD)
-=0.000809/3
(TWINSUK)
- HGVS:
NC_000006.12:g.87512047_87512050del, NC_000006.12:g.87512047GT[1], NC_000006.11:g.88221765_88221768del, NC_000006.11:g.88221765GT[1], NG_016207.1:g.44123_44126del, NG_016207.1:g.44123GT[1], NM_006416.5:c.*521_*524del, NM_006416.5:c.*521GT[1], NM_006416.4:c.*521_*524del, NM_006416.4:c.*521GT[1], NM_001168398.2:c.*521_*524del, NM_001168398.2:c.*521GT[1], NM_001168398.1:c.*521_*524del, NM_001168398.1:c.*521GT[1]
10.
rs1491128387 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:87497090
(GRCh38)
6:88206809
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87497090:C:CC
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490902157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:87492362
(GRCh38)
6:88202080
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87492361:G:T
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0049/22
(
ALFA)
T=0.0049/22
(Estonian)
- HGVS:
12.
rs1490811226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:87490093
(GRCh38)
6:88199811
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87490092:G:A
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490804512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:87506280
(GRCh38)
6:88215998
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87506279:T:A
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490590585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:87489381
(GRCh38)
6:88199099
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87489380:G:A
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490527530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:87505267
(GRCh38)
6:88214985
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87505265:ACA:A
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490459311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:87473256
(GRCh38)
6:88182974
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87473255:C:G,NC_000006.12:87473255:C:T
- Gene:
- SLC35A1 (Varview), LOC124901357 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490442146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:87506442
(GRCh38)
6:88216160
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87506441:T:G
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1490438276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:87498039
(GRCh38)
6:88207757
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87498038:T:C
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490321429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:87489067
(GRCh38)
6:88198785
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87489066:TT:T
- Gene:
- SLC35A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490138013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:87471369
(GRCh38)
6:88181087
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87471368:T:C
- Gene:
- SLC35A1 (Varview), LOC124901357 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: