SNP Links for Gene (Select 93010) - SNP

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Select item 14907537291.

rs1490753729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231395579 (GRCh38)
2:232260290 (GRCh37)
Canonical SPDI:: NC_000002.12:231395578:G:A
Gene:: B3GNT7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231395579G>A, NC_000002.11:g.232260290G>A

Select item 14907375122.

rs1490737512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:231396801 (GRCh38)
2:232261512 (GRCh37)
Canonical SPDI:: NC_000002.12:231396800:C:G,NC_000002.12:231396800:C:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231396801C>G, NC_000002.12:g.231396801C>T, NC_000002.11:g.232261512C>G, NC_000002.11:g.232261512C>T

Select item 14901261663.

rs1490126166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:231398931 (GRCh38)
2:232263642 (GRCh37)
Canonical SPDI:: NC_000002.12:231398930:G:A,NC_000002.12:231398930:G:C
Gene:: B3GNT7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.231398931G>A, NC_000002.12:g.231398931G>C, NC_000002.11:g.232263642G>A, NC_000002.11:g.232263642G>C, NM_145236.3:c.*6G>A, NM_145236.3:c.*6G>C, NM_145236.2:c.*6G>A, NM_145236.2:c.*6G>C

Select item 14899162414.

rs1489916241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:231396872 (GRCh38)
2:232261583 (GRCh37)
Canonical SPDI:: NC_000002.12:231396871:T:G
Gene:: B3GNT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.02622/311 (ALFA)
G=0.00721/21 (KOREAN)
HGVS:: NC_000002.12:g.231396872T>G, NC_000002.11:g.232261583T>G

Select item 14886611315.

rs1488661131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:231396886 (GRCh38)
2:232261597 (GRCh37)
Canonical SPDI:: NC_000002.12:231396885:G:A,NC_000002.12:231396885:G:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.231396886G>A, NC_000002.12:g.231396886G>T, NC_000002.11:g.232261597G>A, NC_000002.11:g.232261597G>T

Select item 14884617216.

rs1488461721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231400184 (GRCh38)
2:232264895 (GRCh37)
Canonical SPDI:: NC_000002.12:231400183:A:G
Gene:: B3GNT7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.231400184A>G, NC_000002.11:g.232264895A>G, NM_145236.3:c.*1259A>G, NM_145236.2:c.*1259A>G

Select item 14882082597.

rs1488208259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:231397722 (GRCh38)
2:232262433 (GRCh37)
Canonical SPDI:: NC_000002.12:231397721:C:G,NC_000002.12:231397721:C:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.231397722C>G, NC_000002.12:g.231397722C>T, NC_000002.11:g.232262433C>G, NC_000002.11:g.232262433C>T, NG_082871.1:g.713C>G, NG_082871.1:g.713C>T

Select item 14880827328.

rs1488082732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:231396020 (GRCh38)
2:232260731 (GRCh37)
Canonical SPDI:: NC_000002.12:231396019:C:A,NC_000002.12:231396019:C:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.231396020C>A, NC_000002.12:g.231396020C>T, NC_000002.11:g.232260731C>A, NC_000002.11:g.232260731C>T

Select item 14878077759.

rs1487807775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231401066 (GRCh38)
2:232265777 (GRCh37)
Canonical SPDI:: NC_000002.12:231401065:C:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231401066C>T, NC_000002.11:g.232265777C>T, NM_145236.3:c.*2141C>T, NM_145236.2:c.*2141C>T

Select item 148713188810.

rs1487131888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231394534 (GRCh38)
2:232259245 (GRCh37)
Canonical SPDI:: NC_000002.12:231394533:T:C
Gene:: B3GNT7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231394534T>C, NC_000002.11:g.232259245T>C

Select item 148662287811.

rs1486622878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:231398466 (GRCh38)
2:232263177 (GRCh37)
Canonical SPDI:: NC_000002.12:231398465:C:A
Gene:: B3GNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.231398466C>A, NC_000002.11:g.232263177C>A, NM_145236.3:c.747C>A, NM_145236.2:c.747C>A, NP_660279.1:p.Asn249Lys

Select item 148656385512.

rs1486563855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231398545 (GRCh38)
2:232263256 (GRCh37)
Canonical SPDI:: NC_000002.12:231398544:C:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231398545C>T, NC_000002.11:g.232263256C>T, NM_145236.3:c.826C>T, NM_145236.2:c.826C>T, NP_660279.1:p.Arg276Cys

Select item 148601335213.

rs1486013352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231397020 (GRCh38)
2:232261731 (GRCh37)
Canonical SPDI:: NC_000002.12:231397019:G:A
Gene:: B3GNT7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231397020G>A, NC_000002.11:g.232261731G>A, NG_082871.1:g.11G>A

Select item 148586290614.

rs1485862906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:231398153 (GRCh38)
2:232262864 (GRCh37)
Canonical SPDI:: NC_000002.12:231398152:C:A,NC_000002.12:231398152:C:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.231398153C>A, NC_000002.12:g.231398153C>T, NC_000002.11:g.232262864C>A, NC_000002.11:g.232262864C>T, NG_082871.1:g.1144C>A, NG_082871.1:g.1144C>T, NM_145236.3:c.434C>A, NM_145236.3:c.434C>T, NM_145236.2:c.434C>A, NM_145236.2:c.434C>T, NP_660279.1:p.Thr145Lys, NP_660279.1:p.Thr145Met

Select item 148560013915.

rs1485600139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231393946 (GRCh38)
2:232258657 (GRCh37)
Canonical SPDI:: NC_000002.12:231393945:G:A
Gene:: B3GNT7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.231393946G>A, NC_000002.11:g.232258657G>A

Select item 148557868616.

rs1485578686 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:231400542 (GRCh38)
2:232265253 (GRCh37)
Canonical SPDI:: NC_000002.12:231400541:CC:C
Gene:: B3GNT7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.231400543del, NC_000002.11:g.232265254del, NM_145236.3:c.*1618del, NM_145236.2:c.*1618del

Select item 148499154417.

rs1484991544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231400762 (GRCh38)
2:232265473 (GRCh37)
Canonical SPDI:: NC_000002.12:231400761:A:G
Gene:: B3GNT7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.231400762A>G, NC_000002.11:g.232265473A>G, NM_145236.3:c.*1837A>G, NM_145236.2:c.*1837A>G

Select item 148468458418.

rs1484684584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231395698 (GRCh38)
2:232260409 (GRCh37)
Canonical SPDI:: NC_000002.12:231395697:G:A
Gene:: B3GNT7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.231395698G>A, NC_000002.11:g.232260409G>A, NM_145236.2:c.-106G>A

Select item 148421019819.

rs1484210198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231400306 (GRCh38)
2:232265017 (GRCh37)
Canonical SPDI:: NC_000002.12:231400305:A:G
Gene:: B3GNT7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.231400306A>G, NC_000002.11:g.232265017A>G, NM_145236.3:c.*1381A>G, NM_145236.2:c.*1381A>G

Select item 148420078420.

rs1484200784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:231395758 (GRCh38)
2:232260469 (GRCh37)
Canonical SPDI:: NC_000002.12:231395757:A:T
Gene:: B3GNT7 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000053/14 (TOPMED)
T=0.000065/9 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.231395758A>T, NC_000002.11:g.232260469A>T, NM_145236.3:c.-46A>T, NM_145236.2:c.-46A>T

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