SNP Links for Gene (Select 10317) - SNP

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Select item 14914166481.

rs1491416648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT,TTCTTT,TTCTTTCTTT,TTCTTTCTTTCTTT [Show Flanks]
Chromosome:: 21:39639288 (GRCh38)
21:41011216 (GRCh37)
Canonical SPDI:: NC_000021.9:39639288:T:TTT,NC_000021.9:39639288:T:TTTCTTT,NC_000021.9:39639288:T:TTTCTTTCTTT,NC_000021.9:39639288:T:TTTCTTTCTTTCTTT
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
TTTCTT=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39639289_39639290insTT, NC_000021.9:g.39639289_39639290insTTCTTT, NC_000021.9:g.39639289TTTC[2]TTT[1], NC_000021.9:g.39639289TTTC[3]TTT[1], NC_000021.8:g.41011216_41011217insTT, NC_000021.8:g.41011216_41011217insTTCTTT, NC_000021.8:g.41011216TTTC[2]TTT[1], NC_000021.8:g.41011216TTTC[3]TTT[1]

Select item 14913155402.

rs1491315540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:39639341 (GRCh38)
21:41011269 (GRCh37)
Canonical SPDI:: NC_000021.9:39639341:C:CC
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00246/41 (TOMMO)
C=0.00274/5 (Korea1K)
HGVS:: NC_000021.9:g.39639342dup, NC_000021.8:g.41011269dup

Select item 14912691503.

rs1491269150 has merged into rs1213669228 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 21:39639454 (GRCh38)
21:41011381 (GRCh37)
Canonical SPDI:: NC_000021.9:39639452:TTTTTTT:T,NC_000021.9:39639452:TTTTTTT:TTT,NC_000021.9:39639452:TTTTTTT:TTTTT,NC_000021.9:39639452:TTTTTTT:TTTTTT,NC_000021.9:39639452:TTTTTTT:TTTTTTTT,NC_000021.9:39639452:TTTTTTT:TTTTTTTTT
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00012/2 (TOMMO)
HGVS:: NC_000021.9:g.39639454_39639459del, NC_000021.9:g.39639456_39639459del, NC_000021.9:g.39639458_39639459del, NC_000021.9:g.39639459del, NC_000021.9:g.39639459dup, NC_000021.9:g.39639458_39639459dup, NC_000021.8:g.41011381_41011386del, NC_000021.8:g.41011383_41011386del, NC_000021.8:g.41011385_41011386del, NC_000021.8:g.41011386del, NC_000021.8:g.41011386dup, NC_000021.8:g.41011385_41011386dup

Select item 14912031174.

rs1491203117 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT,CTTTCTTTCTT [Show Flanks]
Chromosome:: 21:39639453 (GRCh38)
21:41011381 (GRCh37)
Canonical SPDI:: NC_000021.9:39639453:TT:TTCTT,NC_000021.9:39639453:TT:TTCTTTCTT,NC_000021.9:39639453:TT:TTCTTTCTTTCTT
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.39639455_39639456insCTT, NC_000021.9:g.39639454_39639455TTCT[2]T[1], NC_000021.9:g.39639454_39639455TTCT[3]T[1], NC_000021.8:g.41011382_41011383insCTT, NC_000021.8:g.41011381_41011382TTCT[2]T[1], NC_000021.8:g.41011381_41011382TTCT[3]T[1]

Select item 14911485245.

rs1491148524 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:39639342 (GRCh38)
21:41011269 (GRCh37)
Canonical SPDI:: NC_000021.9:39639340:TCT:T
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000113/13 (GnomAD)
HGVS:: NC_000021.9:g.39639342_39639343del, NC_000021.8:g.41011269_41011270del

Select item 14910665246.

rs1491066524 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:39639391 (GRCh38)
21:41011318 (GRCh37)
Canonical SPDI:: NC_000021.9:39639390:CT:
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.001179/124 (GnomAD)
-=0.008031/134 (TOMMO)
HGVS:: NC_000021.9:g.39639391_39639392del, NC_000021.8:g.41011318_41011319del

Select item 14910104917.

rs1491010491 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT,CTTTCT [Show Flanks]
Chromosome:: 21:39639391 (GRCh38)
21:41011319 (GRCh37)
Canonical SPDI:: NC_000021.9:39639391::CT,NC_000021.9:39639391::CTTTCT
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTTTCT=0./0 (ALFA)
CT=0.00065/49 (GnomAD)
HGVS:: NC_000021.9:g.39639391_39639392insCT, NC_000021.9:g.39639391_39639392insCTTTCT, NC_000021.8:g.41011318_41011319insCT, NC_000021.8:g.41011318_41011319insCTTTCT

Select item 14910026468.

rs1491002646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:39619106 (GRCh38)
21:40991033 (GRCh37)
Canonical SPDI:: NC_000021.9:39619105:A:C
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.39619106A>C, NC_000021.8:g.40991033A>C

Select item 14909214559.

rs1490921455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39649452 (GRCh38)
21:41021379 (GRCh37)
Canonical SPDI:: NC_000021.9:39649451:T:C
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39649452T>C, NC_000021.8:g.41021379T>C

Select item 149081428310.

rs1490814283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39656449 (GRCh38)
21:41028376 (GRCh37)
Canonical SPDI:: NC_000021.9:39656448:G:A
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000283/5 (TOMMO)
HGVS:: NC_000021.9:g.39656449G>A, NC_000021.8:g.41028376G>A

Select item 149080729111.

rs1490807291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39641128 (GRCh38)
21:41013055 (GRCh37)
Canonical SPDI:: NC_000021.9:39641127:G:A
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39641128G>A, NC_000021.8:g.41013055G>A

Select item 149080242112.

rs1490802421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:39640855 (GRCh38)
21:41012782 (GRCh37)
Canonical SPDI:: NC_000021.9:39640854:T:G
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.39640855T>G, NC_000021.8:g.41012782T>G

Select item 149077738013.

rs1490777380 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTCTTTCT
Chromosome:: no mapping
Canonical SPDI:

Select item 149061440514.

rs1490614405 has merged into rs1476084733 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 21:39638605 (GRCh38)
21:41010532 (GRCh37)
Canonical SPDI:: NC_000021.9:39638604:CCCC:CCC,NC_000021.9:39638604:CCCC:CCCCC
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.39638608del, NC_000021.9:g.39638608dup, NC_000021.8:g.41010535del, NC_000021.8:g.41010535dup

Select item 149055228215.

rs1490552282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39627101 (GRCh38)
21:40999028 (GRCh37)
Canonical SPDI:: NC_000021.9:39627100:A:G
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.39627101A>G, NC_000021.8:g.40999028A>G

Select item 149053414016.

rs1490534140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39619791 (GRCh38)
21:40991718 (GRCh37)
Canonical SPDI:: NC_000021.9:39619790:A:G
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.39619791A>G, NC_000021.8:g.40991718A>G

Select item 149051054517.

rs1490510545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:39618627 (GRCh38)
21:40990554 (GRCh37)
Canonical SPDI:: NC_000021.9:39618626:T:A
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.39618627T>A, NC_000021.8:g.40990554T>A

Select item 149049135218.

rs1490491352 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 21:39633579 (GRCh38)
21:41005506 (GRCh37)
Canonical SPDI:: NC_000021.9:39633573:TCTTTCTTT:TCTTT
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.39633575CTTT[1], NC_000021.8:g.41005502CTTT[1], NG_081866.1:g.484CTTT[1]

Select item 149044051919.

rs1490440519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:39634549 (GRCh38)
21:41006476 (GRCh37)
Canonical SPDI:: NC_000021.9:39634548:G:T
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000021.9:g.39634549G>T, NC_000021.8:g.41006476G>T

Select item 149031073120.

rs1490310731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39641829 (GRCh38)
21:41013756 (GRCh37)
Canonical SPDI:: NC_000021.9:39641828:C:T
Gene:: B3GALT5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.39641829C>T, NC_000021.8:g.41013756C>T

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