SNP Links for Gene (Select 89792) - SNP

Links from Gene

Items: 1 to 20 of 2627

<< First< Prev

Page of 132

Next >Last >>

Select item 14915189081.

rs1491518908 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:66050625 (GRCh38)
11:65818096 (GRCh37)
Canonical SPDI:: NC_000011.10:66050624:CA:
Gene:: SF3B2 (Varview), GAL3ST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0013/6 (ALFA)
HGVS:: NC_000011.10:g.66050625_66050626del, NC_000011.9:g.65818096_65818097del

Select item 14913030312.

rs1491303031 has merged into rs1303834155 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 11:66050639 (GRCh38)
11:65818110 (GRCh37)
Canonical SPDI:: NC_000011.10:66050625:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:66050625:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:66050625:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:66050625:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SF3B2 (Varview), GAL3ST3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.00035/6 (TOMMO)
HGVS:: NC_000011.10:g.66050639_66050640del, NC_000011.10:g.66050640del, NC_000011.10:g.66050640dup, NC_000011.10:g.66050639_66050640dup, NC_000011.9:g.65818110_65818111del, NC_000011.9:g.65818111del, NC_000011.9:g.65818111dup, NC_000011.9:g.65818110_65818111dup

Select item 14908643103.

rs1490864310 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:66049313 (GRCh38)
11:65816784 (GRCh37)
Canonical SPDI:: NC_000011.10:66049312:A:
Gene:: GAL3ST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66049313del, NC_000011.9:g.65816784del

Select item 14906613804.

rs1490661380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66042224 (GRCh38)
11:65809695 (GRCh37)
Canonical SPDI:: NC_000011.10:66042223:C:A
Gene:: GAL3ST3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66042224C>A, NC_000011.9:g.65809695C>A, NM_033036.3:c.*283G>T, NM_033036.2:c.*283G>T, XM_017018519.2:c.*283G>T, XM_017018519.1:c.*283G>T

Select item 14904073385.

rs1490407338 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:66049794 (GRCh38)
11:65817265 (GRCh37)
Canonical SPDI:: NC_000011.10:66049793:CCC:CC
Gene:: GAL3ST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66049796del, NC_000011.9:g.65817267del

Select item 14903238406.

rs1490323840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66044422 (GRCh38)
11:65811893 (GRCh37)
Canonical SPDI:: NC_000011.10:66044421:A:G
Gene:: GAL3ST3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.66044422A>G, NC_000011.9:g.65811893A>G

Select item 14901549667.

rs1490154966 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 11:66043250 (GRCh38)
11:65810721 (GRCh37)
Canonical SPDI:: NC_000011.10:66043243:GCGCGCGC:GCGCGC
Gene:: GAL3ST3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66043244GC[3], NC_000011.9:g.65810715GC[3], NM_033036.3:c.558_559del, NM_033036.2:c.558_559del, XM_017018519.2:c.624_625del, XM_017018519.1:c.624_625del, NP_149025.1:p.Pro187fs, XP_016874008.1:p.Pro209fs

Select item 14899161958.

rs1489916195 [Homo sapiens]

Variant type:: DEL
Alleles:: CCTCCTTCCC>- [Show Flanks]
Chromosome:: 11:66050310 (GRCh38)
11:65817781 (GRCh37)
Canonical SPDI:: NC_000011.10:66050309:CCTCCTTCCC:
Gene:: GAL3ST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.66050310_66050319del, NC_000011.9:g.65817781_65817790del

Select item 14898602349.

rs1489860234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66051154 (GRCh38)
11:65818625 (GRCh37)
Canonical SPDI:: NC_000011.10:66051153:A:G
Gene:: SF3B2 (Varview), GAL3ST3 (Varview), SNORD13F (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66051154A>G, NC_000011.9:g.65818625A>G

Select item 148924489710.

rs1489244897 has merged into rs1047581766 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 11:66040583 (GRCh38)
11:65808054 (GRCh37)
Canonical SPDI:: NC_000011.10:66040582:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:66040582:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: GAL3ST3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000119/2 (TOMMO)
-=0.000257/68 (TOPMED)
HGVS:: NC_000011.10:g.66040593del, NC_000011.10:g.66040593dup, NC_000011.9:g.65808064del, NC_000011.9:g.65808064dup

Select item 148891532111.

rs1488915321 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 11:66042874 (GRCh38)
11:65810345 (GRCh37)
Canonical SPDI:: NC_000011.10:66042866:CGCGCGCGC:CGCGCGC,NC_000011.10:66042866:CGCGCGCGC:CGCGCGCGCGC
Gene:: GAL3ST3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCGC=0./0 (ALFA)
CG=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66042868GC[3], NC_000011.10:g.66042868GC[5], NC_000011.9:g.65810339GC[3], NC_000011.9:g.65810339GC[5], NM_033036.3:c.935_936del, NM_033036.3:c.935_936dup, NM_033036.2:c.935_936del, NM_033036.2:c.935_936dup, XM_017018519.2:c.1001_1002del, XM_017018519.2:c.1001_1002dup, XM_017018519.1:c.1001_1002del, XM_017018519.1:c.1001_1002dup, NP_149025.1:p.Ala312fs, NP_149025.1:p.Gly313fs, XP_016874008.1:p.Ala334fs, XP_016874008.1:p.Gly335fs

Select item 148877858312.

rs1488778583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66048664 (GRCh38)
11:65816135 (GRCh37)
Canonical SPDI:: NC_000011.10:66048663:C:T
Gene:: GAL3ST3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66048664C>T, NC_000011.9:g.65816135C>T

Select item 148819944913.

rs1488199449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:66049319 (GRCh38)
11:65816790 (GRCh37)
Canonical SPDI:: NC_000011.10:66049318:G:T
Gene:: GAL3ST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.66049319G>T, NC_000011.9:g.65816790G>T

Select item 148795942014.

rs1487959420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66047804 (GRCh38)
11:65815275 (GRCh37)
Canonical SPDI:: NC_000011.10:66047803:C:T
Gene:: GAL3ST3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66047804C>T, NC_000011.9:g.65815275C>T

Select item 148779399915.

rs1487793999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66049022 (GRCh38)
11:65816493 (GRCh37)
Canonical SPDI:: NC_000011.10:66049021:G:A
Gene:: GAL3ST3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66049022G>A, NC_000011.9:g.65816493G>A, NM_033036.3:c.-124C>T, NM_033036.2:c.-124C>T

Select item 148752062416.

rs1487520624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66046936 (GRCh38)
11:65814407 (GRCh37)
Canonical SPDI:: NC_000011.10:66046935:C:T
Gene:: GAL3ST3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66046936C>T, NC_000011.9:g.65814407C>T

Select item 148742000117.

rs1487420001 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:66040581 (GRCh38)
11:65808053 (GRCh37)
Canonical SPDI:: NC_000011.10:66040581:G:GG
Gene:: GAL3ST3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66040582dup, NC_000011.9:g.65808053dup

Select item 148697549118.

rs1486975491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66048876 (GRCh38)
11:65816347 (GRCh37)
Canonical SPDI:: NC_000011.10:66048875:G:A
Gene:: GAL3ST3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66048876G>A, NC_000011.9:g.65816347G>A

Select item 148654650919.

rs1486546509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAGTTGTG [Show Flanks]
Chromosome:: 11:66045016 (GRCh38)
11:65812488 (GRCh37)
Canonical SPDI:: NC_000011.10:66045016:GGAAGTTGTG:GGAAGTTGTGGGAAGTTGTG
Gene:: GAL3ST3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGAAGTTGTGGGAAGTTGTG=0./0 (ALFA)
HGVS:: NC_000011.10:g.66045017_66045026dup, NC_000011.9:g.65812488_65812497dup

Select item 148584532220.

rs1485845322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66043481 (GRCh38)
11:65810952 (GRCh37)
Canonical SPDI:: NC_000011.10:66043480:G:A
Gene:: GAL3ST3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66043481G>A, NC_000011.9:g.65810952G>A, NM_033036.3:c.322C>T, NM_033036.2:c.322C>T, XM_017018519.2:c.388C>T, XM_017018519.1:c.388C>T, NP_149025.1:p.Pro108Ser, XP_016874008.1:p.Pro130Ser

<< First< Prev

Page of 132

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2627

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity