SNP Links for Gene (Select 9245) - SNP

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Items: 1 to 20 of 3793

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Select item 14914052451.

rs1491405245 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAAATAAA,TAAATAAAAATAAA [Show Flanks]
Chromosome:: 15:59613573 (GRCh38)
15:59905773 (GRCh37)
Canonical SPDI:: NC_000015.10:59613573:AAATAAA:AAATAAATAAAAATAAA,NC_000015.10:59613573:AAATAAA:AAATAAATAAATAAAAATAAA
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAAAATAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.59613574_59613580AAAT[2]A[5]TAAA[1], NC_000015.10:g.59613574_59613580AAAT[3]A[5]TAAA[1], NC_000015.9:g.59905773_59905779AAAT[2]A[5]TAAA[1], NC_000015.9:g.59905773_59905779AAAT[3]A[5]TAAA[1]

Select item 14907424422.

rs1490742442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:59617184 (GRCh38)
15:59909383 (GRCh37)
Canonical SPDI:: NC_000015.10:59617183:T:C
Gene:: GCNT3 (Varview)
Functional Consequence:: 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_000015.10:g.59617184T>C, NC_000015.9:g.59909383T>C

Select item 14906369613.

rs1490636961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:59612818 (GRCh38)
15:59905017 (GRCh37)
Canonical SPDI:: NC_000015.10:59612817:G:C
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.59612818G>C, NC_000015.9:g.59905017G>C

Select item 14905040394.

rs1490504039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:59616809 (GRCh38)
15:59909008 (GRCh37)
Canonical SPDI:: NC_000015.10:59616808:G:A
Gene:: GCNT3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000071/10 (GnomAD)
HGVS:: NC_000015.10:g.59616809G>A, NC_000015.9:g.59909008G>A, NM_004751.3:c.-133G>A, NM_004751.2:c.-133G>A, XM_047433344.1:c.-133G>A, XM_047433343.1:c.-133G>A, XM_047433342.1:c.-133G>A, XM_047433341.1:c.-133G>A

Select item 14903466515.

rs1490346651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:59611474 (GRCh38)
15:59903673 (GRCh37)
Canonical SPDI:: NC_000015.10:59611473:A:T
Gene:: GCNT3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59611474A>T, NC_000015.9:g.59903673A>T

Select item 14903451006.

rs1490345100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:59616032 (GRCh38)
15:59908231 (GRCh37)
Canonical SPDI:: NC_000015.10:59616031:C:A
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59616032C>A, NC_000015.9:g.59908231C>A

Select item 14902339627.

rs1490233962 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:59611049 (GRCh38)
15:59903248 (GRCh37)
Canonical SPDI:: NC_000015.10:59611048:A:
Gene:: GCNT3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.59611049del, NC_000015.9:g.59903248del

Select item 14898839928.

rs1489883992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:59616859 (GRCh38)
15:59909058 (GRCh37)
Canonical SPDI:: NC_000015.10:59616858:A:G,NC_000015.10:59616858:A:T
Gene:: GCNT3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.59616859A>G, NC_000015.10:g.59616859A>T, NC_000015.9:g.59909058A>G, NC_000015.9:g.59909058A>T, NM_004751.3:c.-83A>G, NM_004751.3:c.-83A>T, NM_004751.2:c.-83A>G, NM_004751.2:c.-83A>T, XM_047433344.1:c.-83A>G, XM_047433344.1:c.-83A>T, XM_047433343.1:c.-83A>G, XM_047433343.1:c.-83A>T, XM_047433342.1:c.-83A>G, XM_047433342.1:c.-83A>T, XM_047433341.1:c.-83A>G, XM_047433341.1:c.-83A>T

Select item 14898656929.

rs1489865692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:59617504 (GRCh38)
15:59909703 (GRCh37)
Canonical SPDI:: NC_000015.10:59617503:C:T
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59617504C>T, NC_000015.9:g.59909703C>T

Select item 148981929410.

rs1489819294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:59612559 (GRCh38)
15:59904758 (GRCh37)
Canonical SPDI:: NC_000015.10:59612558:C:G
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59612559C>G, NC_000015.9:g.59904758C>G

Select item 148921608011.

rs1489216080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:59619605 (GRCh38)
15:59911804 (GRCh37)
Canonical SPDI:: NC_000015.10:59619604:A:G
Gene:: GCNT3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59619605A>G, NC_000015.9:g.59911804A>G, NM_004751.3:c.*50A>G, NM_004751.2:c.*50A>G, XM_047433344.1:c.*50A>G, XM_047433343.1:c.*50A>G, XM_047433342.1:c.*50A>G, XM_047433341.1:c.*50A>G

Select item 148909755812.

rs1489097558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:59613992 (GRCh38)
15:59906191 (GRCh37)
Canonical SPDI:: NC_000015.10:59613991:G:T
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.59613992G>T, NC_000015.9:g.59906191G>T

Select item 148893139513.

rs1488931395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:59614444 (GRCh38)
15:59906643 (GRCh37)
Canonical SPDI:: NC_000015.10:59614443:C:G
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.59614444C>G, NC_000015.9:g.59906643C>G

Select item 148892328314.

rs1488923283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:59618737 (GRCh38)
15:59910936 (GRCh37)
Canonical SPDI:: NC_000015.10:59618736:A:G
Gene:: GCNT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59618737A>G, NC_000015.9:g.59910936A>G, NM_004751.3:c.499A>G, NM_004751.2:c.499A>G, XM_047433344.1:c.499A>G, XM_047433343.1:c.499A>G, XM_047433342.1:c.499A>G, XM_047433341.1:c.499A>G, NP_004742.1:p.Lys167Glu, XP_047289300.1:p.Lys167Glu, XP_047289299.1:p.Lys167Glu, XP_047289298.1:p.Lys167Glu, XP_047289297.1:p.Lys167Glu

Select item 148891506015.

rs1488915060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:59619850 (GRCh38)
15:59912049 (GRCh37)
Canonical SPDI:: NC_000015.10:59619849:G:A,NC_000015.10:59619849:G:C
Gene:: GCNT3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.59619850G>A, NC_000015.10:g.59619850G>C, NC_000015.9:g.59912049G>A, NC_000015.9:g.59912049G>C, NM_004751.3:c.*295G>A, NM_004751.3:c.*295G>C, NM_004751.2:c.*295G>A, NM_004751.2:c.*295G>C, XM_047433344.1:c.*295G>A, XM_047433344.1:c.*295G>C, XM_047433343.1:c.*295G>A, XM_047433343.1:c.*295G>C, XM_047433342.1:c.*295G>A, XM_047433342.1:c.*295G>C, XM_047433341.1:c.*295G>A, XM_047433341.1:c.*295G>C

Select item 148868428416.

rs1488684284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:59610206 (GRCh38)
15:59902405 (GRCh37)
Canonical SPDI:: NC_000015.10:59610205:C:T
Gene:: GCNT3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00194/23 (ALFA)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000015.10:g.59610206C>T, NC_000015.9:g.59902405C>T

Select item 148837865117.

rs1488378651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:59614303 (GRCh38)
15:59906502 (GRCh37)
Canonical SPDI:: NC_000015.10:59614302:G:A,NC_000015.10:59614302:G:T
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.59614303G>A, NC_000015.10:g.59614303G>T, NC_000015.9:g.59906502G>A, NC_000015.9:g.59906502G>T

Select item 148824507218.

rs1488245072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:59612771 (GRCh38)
15:59904970 (GRCh37)
Canonical SPDI:: NC_000015.10:59612770:C:T
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0001/14 (GnomAD)
T=0.00017/45 (TOPMED)
HGVS:: NC_000015.10:g.59612771C>T, NC_000015.9:g.59904970C>T

Select item 148794591019.

rs1487945910 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCAAAC>- [Show Flanks]
Chromosome:: 15:59613517 (GRCh38)
15:59905716 (GRCh37)
Canonical SPDI:: NC_000015.10:59613513:AACAGCAAAC:AAC
Gene:: GCNT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59613517_59613523del, NC_000015.9:g.59905716_59905722del

Select item 148779434620.

rs1487794346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:59618408 (GRCh38)
15:59910607 (GRCh37)
Canonical SPDI:: NC_000015.10:59618407:A:G
Gene:: GCNT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59618408A>G, NC_000015.9:g.59910607A>G, NM_004751.3:c.170A>G, NM_004751.2:c.170A>G, XM_047433344.1:c.170A>G, XM_047433343.1:c.170A>G, XM_047433342.1:c.170A>G, XM_047433341.1:c.170A>G, NP_004742.1:p.Tyr57Cys, XP_047289300.1:p.Tyr57Cys, XP_047289299.1:p.Tyr57Cys, XP_047289298.1:p.Tyr57Cys, XP_047289297.1:p.Tyr57Cys

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