SNP Links for Gene (Select 11285) - SNP

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Select item 14910202021.

rs1491020202 has merged into rs71585644 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC [Show Flanks]
Chromosome:: 5:177608495 (GRCh38)
5:177035496 (GRCh37)
Canonical SPDI:: NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000005.10:177608487:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.108119/28618 (TOPMED)
-=0.144569/724 (1000Genomes)
HGVS:: NC_000005.10:g.177608495_177608498del, NC_000005.10:g.177608496_177608498del, NC_000005.10:g.177608497_177608498del, NC_000005.10:g.177608498del, NC_000005.10:g.177608498dup, NC_000005.10:g.177608497_177608498dup, NC_000005.10:g.177608496_177608498dup, NC_000005.10:g.177608495_177608498dup, NC_000005.10:g.177608494_177608498dup, NC_000005.10:g.177608493_177608498dup, NC_000005.9:g.177035496_177035499del, NC_000005.9:g.177035497_177035499del, NC_000005.9:g.177035498_177035499del, NC_000005.9:g.177035499del, NC_000005.9:g.177035499dup, NC_000005.9:g.177035498_177035499dup, NC_000005.9:g.177035497_177035499dup, NC_000005.9:g.177035496_177035499dup, NC_000005.9:g.177035495_177035499dup, NC_000005.9:g.177035494_177035499dup, NG_015977.1:g.13378_13381del, NG_015977.1:g.13379_13381del, NG_015977.1:g.13380_13381del, NG_015977.1:g.13381del, NG_015977.1:g.13381dup, NG_015977.1:g.13380_13381dup, NG_015977.1:g.13379_13381dup, NG_015977.1:g.13378_13381dup, NG_015977.1:g.13377_13381dup, NG_015977.1:g.13376_13381dup

Select item 14909722812.

rs1490972281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:177601784 (GRCh38)
5:177028785 (GRCh37)
Canonical SPDI:: NC_000005.10:177601783:A:C
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.177601784A>C, NC_000005.9:g.177028785A>C, NG_015977.1:g.6667A>C, NG_051237.1:g.14637A>C, XM_047416680.1:c.-702A>C, XM_047416681.1:c.-702A>C

Select item 14900185643.

rs1490018564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177606656 (GRCh38)
5:177033657 (GRCh37)
Canonical SPDI:: NC_000005.10:177606655:C:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.177606656C>T, NC_000005.9:g.177033657C>T, NG_015977.1:g.11539C>T

Select item 14899596354.

rs1489959635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177607723 (GRCh38)
5:177034724 (GRCh37)
Canonical SPDI:: NC_000005.10:177607722:G:A
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177607723G>A, NC_000005.9:g.177034724G>A, NG_015977.1:g.12606G>A

Select item 14897596615.

rs1489759661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177602825 (GRCh38)
5:177029826 (GRCh37)
Canonical SPDI:: NC_000005.10:177602824:G:A
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177602825G>A, NC_000005.9:g.177029826G>A, NG_015977.1:g.7708G>A, XM_017008999.3:c.-832G>A, XM_017008999.1:c.-832G>A

Select item 14897090586.

rs1489709058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177603848 (GRCh38)
5:177030849 (GRCh37)
Canonical SPDI:: NC_000005.10:177603847:G:A
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000005.10:g.177603848G>A, NC_000005.9:g.177030849G>A, NG_015977.1:g.8731G>A

Select item 14896307167.

rs1489630716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:177600396 (GRCh38)
5:177027397 (GRCh37)
Canonical SPDI:: NC_000005.10:177600395:T:G
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177600396T>G, NC_000005.9:g.177027397T>G, NG_015977.1:g.5279T>G, NG_051237.1:g.13249T>G, XM_047416680.1:c.-2090T>G

Select item 14895806778.

rs1489580677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:177601048 (GRCh38)
5:177028049 (GRCh37)
Canonical SPDI:: NC_000005.10:177601047:A:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177601048A>T, NC_000005.9:g.177028049A>T, NG_015977.1:g.5931A>T, NG_051237.1:g.13901A>T, XM_047416680.1:c.-1438A>T

Select item 14894611559.

rs1489461155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:177610145 (GRCh38)
5:177037146 (GRCh37)
Canonical SPDI:: NC_000005.10:177610144:A:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.177610145A>T, NC_000005.9:g.177037146A>T, NG_015977.1:g.15028A>T, NM_007255.3:c.*450A>T, NM_007255.2:c.*450A>T, XM_006714816.5:c.*450A>T, XM_006714816.4:c.*450A>T, XM_006714816.3:c.*450A>T, XM_006714816.2:c.*450A>T, XM_006714816.1:c.*450A>T, XM_017008999.3:c.*450A>T, XM_017008999.2:c.*450A>T, XM_017008999.1:c.*450A>T, XM_047416680.1:c.*450A>T, XM_047416681.1:c.*450A>T, XM_047416682.1:c.*450A>T

Select item 148929530110.

rs1489295301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177610419 (GRCh38)
5:177037420 (GRCh37)
Canonical SPDI:: NC_000005.10:177610418:G:A
Gene:: B4GALT7 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.177610419G>A, NC_000005.9:g.177037420G>A, NG_015977.1:g.15302G>A

Select item 148916159311.

rs1489161593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177609175 (GRCh38)
5:177036176 (GRCh37)
Canonical SPDI:: NC_000005.10:177609174:G:A
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.177609175G>A, NC_000005.9:g.177036176G>A, NG_015977.1:g.14058G>A

Select item 148863015112.

rs1488630151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177604260 (GRCh38)
5:177031261 (GRCh37)
Canonical SPDI:: NC_000005.10:177604259:C:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177604260C>T, NC_000005.9:g.177031261C>T, NG_015977.1:g.9143C>T, NM_007255.3:c.132C>T, NM_007255.2:c.132C>T, XM_017008999.3:c.-211C>T, XM_017008999.2:c.-211C>T, XM_017008999.1:c.-211C>T, XM_047416680.1:c.-211C>T, XM_047416681.1:c.-211C>T, XM_047416682.1:c.-211C>T

Select item 148767478913.

rs1487674789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177601268 (GRCh38)
5:177028269 (GRCh37)
Canonical SPDI:: NC_000005.10:177601267:C:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177601268C>T, NC_000005.9:g.177028269C>T, NG_015977.1:g.6151C>T, NG_051237.1:g.14121C>T, XM_047416680.1:c.-1218C>T

Select item 148760457114.

rs1487604571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177603715 (GRCh38)
5:177030716 (GRCh37)
Canonical SPDI:: NC_000005.10:177603714:C:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.177603715C>T, NC_000005.9:g.177030716C>T, NG_015977.1:g.8598C>T

Select item 148755927315.

rs1487559273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:177608373 (GRCh38)
5:177035374 (GRCh37)
Canonical SPDI:: NC_000005.10:177608372:G:C,NC_000005.10:177608372:G:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177608373G>C, NC_000005.10:g.177608373G>T, NC_000005.9:g.177035374G>C, NC_000005.9:g.177035374G>T, NG_015977.1:g.13256G>C, NG_015977.1:g.13256G>T

Select item 148743284516.

rs1487432845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177601751 (GRCh38)
5:177028752 (GRCh37)
Canonical SPDI:: NC_000005.10:177601750:G:A
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.177601751G>A, NC_000005.9:g.177028752G>A, NG_015977.1:g.6634G>A, NG_051237.1:g.14604G>A, XM_047416680.1:c.-735G>A, XM_047416681.1:c.-735G>A

Select item 148667323817.

rs1486673238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177607283 (GRCh38)
5:177034284 (GRCh37)
Canonical SPDI:: NC_000005.10:177607282:C:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000005.10:g.177607283C>T, NC_000005.9:g.177034284C>T, NG_015977.1:g.12166C>T, XM_006714816.5:c.-86C>T, XM_006714816.4:c.-86C>T, XM_006714816.3:c.-86C>T, XM_006714816.2:c.-86C>T, XM_006714816.1:c.-86C>T

Select item 148659634618.

rs1486596346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177604939 (GRCh38)
5:177031940 (GRCh37)
Canonical SPDI:: NC_000005.10:177604938:C:T
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.177604939C>T, NC_000005.9:g.177031940C>T, NG_015977.1:g.9822C>T

Select item 148659630519.

rs1486596305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:177604123 (GRCh38)
5:177031124 (GRCh37)
Canonical SPDI:: NC_000005.10:177604122:C:G
Gene:: B4GALT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177604123C>G, NC_000005.9:g.177031124C>G, NG_015977.1:g.9006C>G

Select item 148642117320.

rs1486421173 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:177608426 (GRCh38)
5:177035427 (GRCh37)
Canonical SPDI:: NC_000005.10:177608425:CCC:CC
Gene:: B4GALT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.177608428del, NC_000005.9:g.177035429del, NG_015977.1:g.13311del

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