SNP Links for Protein (Select 118918426) - SNP

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Links from Protein

Items: 1 to 20 of 440

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Select item 14901019801.

rs1490101980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:77040260 (GRCh38)
11:76751304 (GRCh37)
Canonical SPDI:: NC_000011.10:77040259:C:A
Gene:: B3GNT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.77040260C>A, NW_003871081.1:g.41897C>A, NG_053138.1:g.10920C>A, NM_138706.5:c.709C>A, NM_138706.4:c.709C>A, NC_000011.9:g.76751304C>A, NP_619651.3:p.Gln237Lys

Select item 14899245302.

rs1489924530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77040539 (GRCh38)
11:76751584 (GRCh37)
Canonical SPDI:: NC_000011.10:77040538:C:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.77040539C>T, NW_003871081.1:g.42176C>T, NG_053138.1:g.11199C>T, NM_138706.5:c.988C>T, NM_138706.4:c.988C>T, NC_000011.9:g.76751584C>T, NP_619651.3:p.Arg330Ter

Select item 14883093103.

rs1488309310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:77040151 (GRCh38)
11:76751195 (GRCh37)
Canonical SPDI:: NC_000011.10:77040150:G:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77040151G>T, NC_000011.9:g.76751195G>T, NG_053138.1:g.10811G>T, NM_138706.5:c.600G>T, NM_138706.4:c.600G>T, NW_003871081.1:g.41788G>T, NP_619651.3:p.Lys200Asn

Select item 14854840224.

rs1485484022 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:77039853 (GRCh38)
11:76750898 (GRCh37)
Canonical SPDI:: NC_000011.10:77039853:CCC:CCCC
Gene:: B3GNT6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77039856dup, NC_000011.9:g.76750900dup, NG_053138.1:g.10516dup, NM_138706.5:c.305dup, NM_138706.4:c.305dup, NW_003871081.1:g.41493dup, NP_619651.3:p.Leu103fs

Select item 14835192475.

rs1483519247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:77040422 (GRCh38)
11:76751466 (GRCh37)
Canonical SPDI:: NC_000011.10:77040421:A:C,NC_000011.10:77040421:A:G
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
C=0.000177/5 (TOMMO)
C=0.014138/41 (KOREAN)
HGVS:: NC_000011.10:g.77040422A>C, NC_000011.10:g.77040422A>G, NW_003871081.1:g.42059A>C, NW_003871081.1:g.42059A>G, NG_053138.1:g.11082A>C, NG_053138.1:g.11082A>G, NM_138706.5:c.871A>C, NM_138706.5:c.871A>G, NM_138706.4:c.871A>C, NM_138706.4:c.871A>G, NC_000011.9:g.76751466A>C, NC_000011.9:g.76751466A>G, NP_619651.3:p.Thr291Pro, NP_619651.3:p.Thr291Ala

Select item 14810362756.

rs1481036275 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAGGAGATGTCCCCGC [Show Flanks]
Chromosome:: 11:77039673 (GRCh38)
11:76750718 (GRCh37)
Canonical SPDI:: NC_000011.10:77039673:GTCCCCGC:GTCCCCGCGGGAGGAGATGTCCCCGC
Gene:: B3GNT6 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GTCCCCGCGGGAGGAGATGTCCCCGC=0./0 (ALFA)
GTCCCCGCGGGAGGAGAT=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77039681_77039682insGGGAGGAGATGTCCCCGC, NC_000011.9:g.76750725_76750726insGGGAGGAGATGTCCCCGC, NG_053138.1:g.10341_10342insGGGAGGAGATGTCCCCGC, NM_138706.5:c.130_131insGGGAGGAGATGTCCCCGC, NM_138706.4:c.130_131insGGGAGGAGATGTCCCCGC, NW_003871081.1:g.41318_41319insGGGAGGAGATGTCCCCGC, NP_619651.3:p.Gln44_Glu45insArgGluGluMetSerPro

Select item 14794743547.

rs1479474354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77040599 (GRCh38)
11:76751646 (GRCh37)
Canonical SPDI:: NC_000011.10:77040598:C:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77040599C>T, NW_003871081.1:g.42236C>T, NG_053138.1:g.11259C>T, NM_138706.5:c.1048C>T, NM_138706.4:c.1048C>T, NC_000011.9:g.76751646C>T, NP_619651.3:p.Arg350Cys

Select item 14794344188.

rs1479434418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77040295 (GRCh38)
11:76751339 (GRCh37)
Canonical SPDI:: NC_000011.10:77040294:C:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77040295C>T, NW_003871081.1:g.41932C>T, NG_053138.1:g.10955C>T, NM_138706.5:c.744C>T, NM_138706.4:c.744C>T, NC_000011.9:g.76751339C>T

Select item 14794022109.

rs1479402210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:77039965 (GRCh38)
11:76751009 (GRCh37)
Canonical SPDI:: NC_000011.10:77039964:C:G
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77039965C>G, NC_000011.9:g.76751009C>G, NG_053138.1:g.10625C>G, NM_138706.5:c.414C>G, NM_138706.4:c.414C>G, NW_003871081.1:g.41602C>G

Select item 147057419610.

rs1470574196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:77040367 (GRCh38)
11:76751411 (GRCh37)
Canonical SPDI:: NC_000011.10:77040366:C:G
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.77040367C>G, NW_003871081.1:g.42004C>G, NG_053138.1:g.11027C>G, NM_138706.5:c.816C>G, NM_138706.4:c.816C>G, NC_000011.9:g.76751411C>G

Select item 146814623911.

rs1468146239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77040693 (GRCh38)
11:76751740 (GRCh37)
Canonical SPDI:: NC_000011.10:77040692:A:G
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77040693A>G, NW_003871081.1:g.42330A>G, NG_053138.1:g.11353A>G, NM_138706.5:c.1142A>G, NM_138706.4:c.1142A>G, NC_000011.9:g.76751740A>G, NP_619651.3:p.His381Arg

Select item 146388298312.

rs1463882983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:77039728 (GRCh38)
11:76750772 (GRCh37)
Canonical SPDI:: NC_000011.10:77039727:G:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.77039728G>T, NC_000011.9:g.76750772G>T, NG_053138.1:g.10388G>T, NM_138706.5:c.177G>T, NM_138706.4:c.177G>T, NW_003871081.1:g.41365G>T, NP_619651.3:p.Glu59Asp

Select item 146155391313.

rs1461553913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77039830 (GRCh38)
11:76750874 (GRCh37)
Canonical SPDI:: NC_000011.10:77039829:G:A
Gene:: B3GNT6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77039830G>A, NC_000011.9:g.76750874G>A, NG_053138.1:g.10490G>A, NM_138706.5:c.279G>A, NM_138706.4:c.279G>A, NW_003871081.1:g.41467G>A

Select item 146111454114.

rs1461114541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:77040056 (GRCh38)
11:76751100 (GRCh37)
Canonical SPDI:: NC_000011.10:77040055:G:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77040056G>T, NC_000011.9:g.76751100G>T, NG_053138.1:g.10716G>T, NM_138706.5:c.505G>T, NM_138706.4:c.505G>T, NW_003871081.1:g.41693G>T, NP_619651.3:p.Glu169Ter

Select item 145816582115.

rs1458165821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77040521 (GRCh38)
11:76751566 (GRCh37)
Canonical SPDI:: NC_000011.10:77040520:A:G
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77040521A>G, NW_003871081.1:g.42158A>G, NG_053138.1:g.11181A>G, NM_138706.5:c.970A>G, NM_138706.4:c.970A>G, NC_000011.9:g.76751566A>G, NP_619651.3:p.Ser324Gly

Select item 145375687516.

rs1453756875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:77039806 (GRCh38)
11:76750850 (GRCh37)
Canonical SPDI:: NC_000011.10:77039805:G:C
Gene:: B3GNT6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77039806G>C, NC_000011.9:g.76750850G>C, NG_053138.1:g.10466G>C, NM_138706.5:c.255G>C, NM_138706.4:c.255G>C, NW_003871081.1:g.41443G>C

Select item 145102058217.

rs1451020582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77039813 (GRCh38)
11:76750857 (GRCh37)
Canonical SPDI:: NC_000011.10:77039812:C:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77039813C>T, NC_000011.9:g.76750857C>T, NG_053138.1:g.10473C>T, NM_138706.5:c.262C>T, NM_138706.4:c.262C>T, NW_003871081.1:g.41450C>T, NP_619651.3:p.Arg88Cys

Select item 145011720118.

rs1450117201 has merged into rs782118468 [Homo sapiens]

Variant type:: DEL
Alleles:: GGG>- [Show Flanks]
Chromosome:: 11:77040031 (GRCh38)
11:76751075 (GRCh37)
Canonical SPDI:: NC_000011.10:77040030:GGG:
Gene:: B3GNT6 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000087/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000239/47 (GnomAD_exomes)
-=0.000312/2 (1000Genomes)
-=0.000343/23 (ExAC)
HGVS:: NC_000011.10:g.77040031_77040033del, NC_000011.9:g.76751075_76751077del, NG_053138.1:g.10691_10693del, NM_138706.5:c.480_482del, NM_138706.4:c.480_482del, NW_003871081.1:g.41668_41670del, NP_619651.3:p.Gly161del

Select item 144574391619.

rs1445743916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:77040062 (GRCh38)
11:76751106 (GRCh37)
Canonical SPDI:: NC_000011.10:77040061:C:G
Gene:: B3GNT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00034/1 (KOREAN)
HGVS:: NC_000011.10:g.77040062C>G, NC_000011.9:g.76751106C>G, NG_053138.1:g.10722C>G, NM_138706.5:c.511C>G, NM_138706.4:c.511C>G, NW_003871081.1:g.41699C>G, NP_619651.3:p.Leu171Val

Select item 144568093920.

rs1445680939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:77040689 (GRCh38)
11:76751736 (GRCh37)
Canonical SPDI:: NC_000011.10:77040688:G:C,NC_000011.10:77040688:G:T
Gene:: B3GNT6 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77040689G>C, NC_000011.10:g.77040689G>T, NW_003871081.1:g.42326G>C, NW_003871081.1:g.42326G>T, NG_053138.1:g.11349G>C, NG_053138.1:g.11349G>T, NM_138706.5:c.1138G>C, NM_138706.5:c.1138G>T, NM_138706.4:c.1138G>C, NM_138706.4:c.1138G>T, NC_000011.9:g.76751736G>C, NC_000011.9:g.76751736G>T, NP_619651.3:p.Gly380Arg, NP_619651.3:p.Gly380Ter

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