SNP Links for Gene (Select 79690) - SNP

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Select item 14915360161.

rs1491536016 has merged into rs1364236505 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 7:100167570 (GRCh38)
7:99765193 (GRCh37)
Canonical SPDI:: NC_000007.14:100167560:AGAGAGAGAGAGA:AGAGAGAGA,NC_000007.14:100167560:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000007.14:100167560:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000007.14:g.100167562GA[4], NC_000007.14:g.100167562GA[5], NC_000007.14:g.100167562GA[7], NC_000007.13:g.99765185GA[4], NC_000007.13:g.99765185GA[5], NC_000007.13:g.99765185GA[7]

Select item 14911773702.

rs1491177370 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 7:100165817 (GRCh38)
7:99763441 (GRCh37)
Canonical SPDI:: NC_000007.14:100165817:C:CAC,NC_000007.14:100165817:C:CACAC,NC_000007.14:100165817:C:CACACAC,NC_000007.14:100165817:C:CACACACAC,NC_000007.14:100165817:C:CACACACACAC,NC_000007.14:100165817:C:CACACACACACAC,NC_000007.14:100165817:C:CACACACACACACAC,NC_000007.14:100165817:C:CACACACACACACACAC
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
CACACACACACA=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100165818_100165819insAC, NC_000007.14:g.100165818_100165819insACAC, NC_000007.14:g.100165819AC[3], NC_000007.14:g.100165819AC[4], NC_000007.14:g.100165819AC[5], NC_000007.14:g.100165819AC[6], NC_000007.14:g.100165819AC[7], NC_000007.14:g.100165819AC[8], NC_000007.13:g.99763441_99763442insAC, NC_000007.13:g.99763441_99763442insACAC, NC_000007.13:g.99763442AC[3], NC_000007.13:g.99763442AC[4], NC_000007.13:g.99763442AC[5], NC_000007.13:g.99763442AC[6], NC_000007.13:g.99763442AC[7], NC_000007.13:g.99763442AC[8]

Select item 14911203893.

rs1491120389 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:100167560 (GRCh38)
7:99765183 (GRCh37)
Canonical SPDI:: NC_000007.14:100167559:AA:
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000106/28 (TOPMED)
HGVS:: NC_000007.14:g.100167560_100167561del, NC_000007.13:g.99765183_99765184del

Select item 14905207874.

rs1490520787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100160876 (GRCh38)
7:99758499 (GRCh37)
Canonical SPDI:: NC_000007.14:100160875:G:C
Gene:: GAL3ST4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100160876G>C, NC_000007.13:g.99758499G>C, NM_024637.5:c.513C>G, NM_024637.4:c.513C>G, NP_078913.3:p.Tyr171Ter

Select item 14903580585.

rs1490358058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100162944 (GRCh38)
7:99760567 (GRCh37)
Canonical SPDI:: NC_000007.14:100162943:C:G,NC_000007.14:100162943:C:T
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100162944C>G, NC_000007.14:g.100162944C>T, NC_000007.13:g.99760567C>G, NC_000007.13:g.99760567C>T

Select item 14900456266.

rs1490045626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100164596 (GRCh38)
7:99762219 (GRCh37)
Canonical SPDI:: NC_000007.14:100164595:T:C
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100164596T>C, NC_000007.13:g.99762219T>C

Select item 14897898907.

rs1489789890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100168214 (GRCh38)
7:99765837 (GRCh37)
Canonical SPDI:: NC_000007.14:100168213:C:T
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100168214C>T, NC_000007.13:g.99765837C>T

Select item 14896850678.

rs1489685067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:100160781 (GRCh38)
7:99758404 (GRCh37)
Canonical SPDI:: NC_000007.14:100160780:T:A
Gene:: GAL3ST4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.100160781T>A, NC_000007.13:g.99758404T>A, NM_024637.5:c.608A>T, NM_024637.4:c.608A>T, NP_078913.3:p.Asp203Val

Select item 14892004339.

rs1489200433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:100168883 (GRCh38)
7:99766506 (GRCh37)
Canonical SPDI:: NC_000007.14:100168882:A:G,NC_000007.14:100168882:A:T
Gene:: GAL3ST4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100168883A>G, NC_000007.14:g.100168883A>T, NC_000007.13:g.99766506A>G, NC_000007.13:g.99766506A>T

Select item 148913937010.

rs1489139370 has merged into rs57521505 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 7:100168019 (GRCh38)
7:99765642 (GRCh37)
Canonical SPDI:: NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:100168005:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000083/22 (TOPMED)
-=0.125/1 (KOREAN)
HGVS:: NC_000007.14:g.100168007CA[6], NC_000007.14:g.100168007CA[7], NC_000007.14:g.100168007CA[8], NC_000007.14:g.100168007CA[9], NC_000007.14:g.100168007CA[10], NC_000007.14:g.100168007CA[11], NC_000007.14:g.100168007CA[12], NC_000007.14:g.100168007CA[14], NC_000007.14:g.100168007CA[15], NC_000007.14:g.100168007CA[16], NC_000007.14:g.100168007CA[17], NC_000007.14:g.100168007CA[18], NC_000007.14:g.100168007CA[19], NC_000007.14:g.100168007CA[20], NC_000007.14:g.100168007CA[21], NC_000007.14:g.100168007CA[22], NC_000007.14:g.100168007CA[23], NC_000007.14:g.100168007CA[24], NC_000007.14:g.100168007CA[25], NC_000007.14:g.100168007CA[26], NC_000007.13:g.99765630CA[6], NC_000007.13:g.99765630CA[7], NC_000007.13:g.99765630CA[8], NC_000007.13:g.99765630CA[9], NC_000007.13:g.99765630CA[10], NC_000007.13:g.99765630CA[11], NC_000007.13:g.99765630CA[12], NC_000007.13:g.99765630CA[14], NC_000007.13:g.99765630CA[15], NC_000007.13:g.99765630CA[16], NC_000007.13:g.99765630CA[17], NC_000007.13:g.99765630CA[18], NC_000007.13:g.99765630CA[19], NC_000007.13:g.99765630CA[20], NC_000007.13:g.99765630CA[21], NC_000007.13:g.99765630CA[22], NC_000007.13:g.99765630CA[23], NC_000007.13:g.99765630CA[24], NC_000007.13:g.99765630CA[25], NC_000007.13:g.99765630CA[26]

Select item 148899463311.

rs1488994633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:100169188 (GRCh38)
7:99766811 (GRCh37)
Canonical SPDI:: NC_000007.14:100169187:C:G
Gene:: GAL3ST4 (Varview), GPC2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000895/4 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
G=0.001339/6 (Estonian)
HGVS:: NC_000007.14:g.100169188C>G, NC_000007.13:g.99766811C>G

Select item 148877092212.

rs1488770922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100167012 (GRCh38)
7:99764635 (GRCh37)
Canonical SPDI:: NC_000007.14:100167011:A:G
Gene:: GAL3ST4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100167012A>G, NC_000007.13:g.99764635A>G, NM_024637.5:c.84T>C, NM_024637.4:c.84T>C

Select item 148817594613.

rs1488175946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100159140 (GRCh38)
7:99756763 (GRCh37)
Canonical SPDI:: NC_000007.14:100159139:G:A
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100159140G>A, NC_000007.13:g.99756763G>A

Select item 148797551414.

rs1487975514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100160258 (GRCh38)
7:99757881 (GRCh37)
Canonical SPDI:: NC_000007.14:100160257:G:C
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100160258G>C, NC_000007.13:g.99757881G>C, NM_024637.5:c.1131C>G, NM_024637.4:c.1131C>G

Select item 148782289015.

rs1487822890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:100165823 (GRCh38)
7:99763446 (GRCh37)
Canonical SPDI:: NC_000007.14:100165822:A:T
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.100165823A>T, NC_000007.13:g.99763446A>T

Select item 148768994216.

rs1487689942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100168548 (GRCh38)
7:99766171 (GRCh37)
Canonical SPDI:: NC_000007.14:100168547:G:A
Gene:: GAL3ST4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100168548G>A, NC_000007.13:g.99766171G>A, NM_024637.5:c.-191C>T, NM_024637.4:c.-191C>T

Select item 148768136917.

rs1487681369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100164047 (GRCh38)
7:99761670 (GRCh37)
Canonical SPDI:: NC_000007.14:100164046:C:T
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.100164047C>T, NC_000007.13:g.99761670C>T

Select item 148762162518.

rs1487621625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100158934 (GRCh38)
7:99756557 (GRCh37)
Canonical SPDI:: NC_000007.14:100158933:C:T
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100158934C>T, NC_000007.13:g.99756557C>T

Select item 148757262819.

rs1487572628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100168445 (GRCh38)
7:99766068 (GRCh37)
Canonical SPDI:: NC_000007.14:100168444:C:G,NC_000007.14:100168444:C:T
Gene:: GAL3ST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100168445C>G, NC_000007.14:g.100168445C>T, NC_000007.13:g.99766068C>G, NC_000007.13:g.99766068C>T

Select item 148725886120.

rs1487258861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100169859 (GRCh38)
7:99767482 (GRCh37)
Canonical SPDI:: NC_000007.14:100169858:A:C
Gene:: GAL3ST4 (Varview), GPC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.04532/740 (ALFA)
C=0.00246/11 (Estonian)
C=0.00255/43 (TOMMO)
C=0.0423/123 (KOREAN)
HGVS:: NC_000007.14:g.100169859A>C, NC_000007.13:g.99767482A>C, NM_152742.3:c.*371T>G, NM_152742.2:c.*371T>G, NM_152742.1:c.*371T>G

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