SNP Links for Protein (Select 578805077) - SNP

Links from Protein

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Select item 14896828471.

rs1489682847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:167869516 (GRCh38)
2:168726026 (GRCh37)
Canonical SPDI:: NC_000002.12:167869515:G:A
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.167869516G>A, NC_000002.11:g.168726026G>A, NG_050644.1:g.581456G>A, NM_020981.4:c.477G>A, NM_020981.3:c.477G>A, XM_006712819.4:c.477G>A, XM_006712819.3:c.477G>A, XM_006712819.2:c.477G>A, XM_006712819.1:c.477G>A, XM_011512085.3:c.477G>A, XM_011512085.2:c.477G>A, XM_011512085.1:c.477G>A, XM_047446159.1:c.477G>A, XM_047446160.1:c.477G>A

Select item 14870086362.

rs1487008636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:167869136 (GRCh38)
2:168725646 (GRCh37)
Canonical SPDI:: NC_000002.12:167869135:A:G
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.167869136A>G, NC_000002.11:g.168725646A>G, NG_050644.1:g.581076A>G, NM_020981.4:c.97A>G, NM_020981.3:c.97A>G, XM_006712819.4:c.97A>G, XM_006712819.3:c.97A>G, XM_006712819.2:c.97A>G, XM_006712819.1:c.97A>G, XM_011512085.3:c.97A>G, XM_011512085.2:c.97A>G, XM_011512085.1:c.97A>G, XM_047446159.1:c.97A>G, XM_047446160.1:c.97A>G, NP_066191.1:p.Thr33Ala, XP_006712882.1:p.Thr33Ala, XP_011510387.1:p.Thr33Ala, XP_047302115.1:p.Thr33Ala, XP_047302116.1:p.Thr33Ala

Select item 14839266743.

rs1483926674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:167869764 (GRCh38)
2:168726274 (GRCh37)
Canonical SPDI:: NC_000002.12:167869763:T:A
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0016/3 (Korea1K)
HGVS:: NC_000002.12:g.167869764T>A, NC_000002.11:g.168726274T>A, NG_050644.1:g.581704T>A, NM_020981.4:c.725T>A, NM_020981.3:c.725T>A, XM_006712819.4:c.725T>A, XM_006712819.3:c.725T>A, XM_006712819.2:c.725T>A, XM_006712819.1:c.725T>A, XM_011512085.3:c.725T>A, XM_011512085.2:c.725T>A, XM_011512085.1:c.725T>A, XM_047446159.1:c.725T>A, XM_047446160.1:c.725T>A, NR_131227.1:n.304A>T, NP_066191.1:p.Ile242Asn, XP_006712882.1:p.Ile242Asn, XP_011510387.1:p.Ile242Asn, XP_047302115.1:p.Ile242Asn, XP_047302116.1:p.Ile242Asn

Select item 14805998914.

rs1480599891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:167869379 (GRCh38)
2:168725889 (GRCh37)
Canonical SPDI:: NC_000002.12:167869378:A:C,NC_000002.12:167869378:A:G
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.167869379A>C, NC_000002.12:g.167869379A>G, NC_000002.11:g.168725889A>C, NC_000002.11:g.168725889A>G, NG_050644.1:g.581319A>C, NG_050644.1:g.581319A>G, NM_020981.4:c.340A>C, NM_020981.4:c.340A>G, NM_020981.3:c.340A>C, NM_020981.3:c.340A>G, XM_006712819.4:c.340A>C, XM_006712819.4:c.340A>G, XM_006712819.3:c.340A>C, XM_006712819.3:c.340A>G, XM_006712819.2:c.340A>C, XM_006712819.2:c.340A>G, XM_006712819.1:c.340A>C, XM_006712819.1:c.340A>G, XM_011512085.3:c.340A>C, XM_011512085.3:c.340A>G, XM_011512085.2:c.340A>C, XM_011512085.2:c.340A>G, XM_011512085.1:c.340A>C, XM_011512085.1:c.340A>G, XM_047446159.1:c.340A>C, XM_047446159.1:c.340A>G, XM_047446160.1:c.340A>C, XM_047446160.1:c.340A>G, NP_066191.1:p.Thr114Pro, NP_066191.1:p.Thr114Ala, XP_006712882.1:p.Thr114Pro, XP_006712882.1:p.Thr114Ala, XP_011510387.1:p.Thr114Pro, XP_011510387.1:p.Thr114Ala, XP_047302115.1:p.Thr114Pro, XP_047302115.1:p.Thr114Ala, XP_047302116.1:p.Thr114Pro, XP_047302116.1:p.Thr114Ala

Select item 14782612995.

rs1478261299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:167869474 (GRCh38)
2:168725984 (GRCh37)
Canonical SPDI:: NC_000002.12:167869473:T:C
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.167869474T>C, NC_000002.11:g.168725984T>C, NG_050644.1:g.581414T>C, NM_020981.4:c.435T>C, NM_020981.3:c.435T>C, XM_006712819.4:c.435T>C, XM_006712819.3:c.435T>C, XM_006712819.2:c.435T>C, XM_006712819.1:c.435T>C, XM_011512085.3:c.435T>C, XM_011512085.2:c.435T>C, XM_011512085.1:c.435T>C, XM_047446159.1:c.435T>C, XM_047446160.1:c.435T>C

Select item 14656814996.

rs1465681499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:167869341 (GRCh38)
2:168725851 (GRCh37)
Canonical SPDI:: NC_000002.12:167869340:G:C,NC_000002.12:167869340:G:T
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.167869341G>C, NC_000002.12:g.167869341G>T, NC_000002.11:g.168725851G>C, NC_000002.11:g.168725851G>T, NG_050644.1:g.581281G>C, NG_050644.1:g.581281G>T, NM_020981.4:c.302G>C, NM_020981.4:c.302G>T, NM_020981.3:c.302G>C, NM_020981.3:c.302G>T, XM_006712819.4:c.302G>C, XM_006712819.4:c.302G>T, XM_006712819.3:c.302G>C, XM_006712819.3:c.302G>T, XM_006712819.2:c.302G>C, XM_006712819.2:c.302G>T, XM_006712819.1:c.302G>C, XM_006712819.1:c.302G>T, XM_011512085.3:c.302G>C, XM_011512085.3:c.302G>T, XM_011512085.2:c.302G>C, XM_011512085.2:c.302G>T, XM_011512085.1:c.302G>C, XM_011512085.1:c.302G>T, XM_047446159.1:c.302G>C, XM_047446159.1:c.302G>T, XM_047446160.1:c.302G>C, XM_047446160.1:c.302G>T, NP_066191.1:p.Trp101Ser, NP_066191.1:p.Trp101Leu, XP_006712882.1:p.Trp101Ser, XP_006712882.1:p.Trp101Leu, XP_011510387.1:p.Trp101Ser, XP_011510387.1:p.Trp101Leu, XP_047302115.1:p.Trp101Ser, XP_047302115.1:p.Trp101Leu, XP_047302116.1:p.Trp101Ser, XP_047302116.1:p.Trp101Leu

Select item 14634261677.

rs1463426167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:167869540 (GRCh38)
2:168726050 (GRCh37)
Canonical SPDI:: NC_000002.12:167869539:T:C
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.167869540T>C, NC_000002.11:g.168726050T>C, NG_050644.1:g.581480T>C, NM_020981.4:c.501T>C, NM_020981.3:c.501T>C, XM_006712819.4:c.501T>C, XM_006712819.3:c.501T>C, XM_006712819.2:c.501T>C, XM_006712819.1:c.501T>C, XM_011512085.3:c.501T>C, XM_011512085.2:c.501T>C, XM_011512085.1:c.501T>C, XM_047446159.1:c.501T>C, XM_047446160.1:c.501T>C

Select item 14631847348.

rs1463184734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:167869649 (GRCh38)
2:168726159 (GRCh37)
Canonical SPDI:: NC_000002.12:167869648:A:G
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.167869649A>G, NC_000002.11:g.168726159A>G, NG_050644.1:g.581589A>G, NM_020981.4:c.610A>G, NM_020981.3:c.610A>G, XM_006712819.4:c.610A>G, XM_006712819.3:c.610A>G, XM_006712819.2:c.610A>G, XM_006712819.1:c.610A>G, XM_011512085.3:c.610A>G, XM_011512085.2:c.610A>G, XM_011512085.1:c.610A>G, XM_047446159.1:c.610A>G, XM_047446160.1:c.610A>G, NP_066191.1:p.Thr204Ala, XP_006712882.1:p.Thr204Ala, XP_011510387.1:p.Thr204Ala, XP_047302115.1:p.Thr204Ala, XP_047302116.1:p.Thr204Ala

Select item 14592640389.

rs1459264038 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 2:167869569 (GRCh38)
2:168726079 (GRCh37)
Canonical SPDI:: NC_000002.12:167869564:ACAGACAG:ACAG
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.167869565ACAG[1], NC_000002.11:g.168726075ACAG[1], NG_050644.1:g.581505ACAG[1], NM_020981.4:c.530_533del, NM_020981.3:c.530_533del, XM_006712819.4:c.530_533del, XM_006712819.3:c.530_533del, XM_006712819.2:c.530_533del, XM_006712819.1:c.530_533del, XM_011512085.3:c.530_533del, XM_011512085.2:c.530_533del, XM_011512085.1:c.530_533del, XM_047446159.1:c.530_533del, XM_047446160.1:c.530_533del, NP_066191.1:p.Asp177fs, XP_006712882.1:p.Asp177fs, XP_011510387.1:p.Asp177fs, XP_047302115.1:p.Asp177fs, XP_047302116.1:p.Asp177fs

Select item 145696852510.

rs1456968525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:167869713 (GRCh38)
2:168726223 (GRCh37)
Canonical SPDI:: NC_000002.12:167869712:A:G
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000002.12:g.167869713A>G, NC_000002.11:g.168726223A>G, NG_050644.1:g.581653A>G, NM_020981.4:c.674A>G, NM_020981.3:c.674A>G, XM_006712819.4:c.674A>G, XM_006712819.3:c.674A>G, XM_006712819.2:c.674A>G, XM_006712819.1:c.674A>G, XM_011512085.3:c.674A>G, XM_011512085.2:c.674A>G, XM_011512085.1:c.674A>G, XM_047446159.1:c.674A>G, XM_047446160.1:c.674A>G, NP_066191.1:p.Asp225Gly, XP_006712882.1:p.Asp225Gly, XP_011510387.1:p.Asp225Gly, XP_047302115.1:p.Asp225Gly, XP_047302116.1:p.Asp225Gly

Select item 144723440511.

rs1447234405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:167869756 (GRCh38)
2:168726266 (GRCh37)
Canonical SPDI:: NC_000002.12:167869755:T:C
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000002.12:g.167869756T>C, NC_000002.11:g.168726266T>C, NG_050644.1:g.581696T>C, NM_020981.4:c.717T>C, NM_020981.3:c.717T>C, XM_006712819.4:c.717T>C, XM_006712819.3:c.717T>C, XM_006712819.2:c.717T>C, XM_006712819.1:c.717T>C, XM_011512085.3:c.717T>C, XM_011512085.2:c.717T>C, XM_011512085.1:c.717T>C, XM_047446159.1:c.717T>C, XM_047446160.1:c.717T>C, NR_131227.1:n.312A>G

Select item 144527825912.

rs1445278259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:167869143 (GRCh38)
2:168725653 (GRCh37)
Canonical SPDI:: NC_000002.12:167869142:C:G,NC_000002.12:167869142:C:T
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.167869143C>G, NC_000002.12:g.167869143C>T, NC_000002.11:g.168725653C>G, NC_000002.11:g.168725653C>T, NG_050644.1:g.581083C>G, NG_050644.1:g.581083C>T, NM_020981.4:c.104C>G, NM_020981.4:c.104C>T, NM_020981.3:c.104C>G, NM_020981.3:c.104C>T, XM_006712819.4:c.104C>G, XM_006712819.4:c.104C>T, XM_006712819.3:c.104C>G, XM_006712819.3:c.104C>T, XM_006712819.2:c.104C>G, XM_006712819.2:c.104C>T, XM_006712819.1:c.104C>G, XM_006712819.1:c.104C>T, XM_011512085.3:c.104C>G, XM_011512085.3:c.104C>T, XM_011512085.2:c.104C>G, XM_011512085.2:c.104C>T, XM_011512085.1:c.104C>G, XM_011512085.1:c.104C>T, XM_047446159.1:c.104C>G, XM_047446159.1:c.104C>T, XM_047446160.1:c.104C>G, XM_047446160.1:c.104C>T, NP_066191.1:p.Ser35Cys, NP_066191.1:p.Ser35Phe, XP_006712882.1:p.Ser35Cys, XP_006712882.1:p.Ser35Phe, XP_011510387.1:p.Ser35Cys, XP_011510387.1:p.Ser35Phe, XP_047302115.1:p.Ser35Cys, XP_047302115.1:p.Ser35Phe, XP_047302116.1:p.Ser35Cys, XP_047302116.1:p.Ser35Phe

Select item 143690584013.

rs1436905840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:167869177 (GRCh38)
2:168725687 (GRCh37)
Canonical SPDI:: NC_000002.12:167869176:A:G
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.167869177A>G, NC_000002.11:g.168725687A>G, NG_050644.1:g.581117A>G, NM_020981.4:c.138A>G, NM_020981.3:c.138A>G, XM_006712819.4:c.138A>G, XM_006712819.3:c.138A>G, XM_006712819.2:c.138A>G, XM_006712819.1:c.138A>G, XM_011512085.3:c.138A>G, XM_011512085.2:c.138A>G, XM_011512085.1:c.138A>G, XM_047446159.1:c.138A>G, XM_047446160.1:c.138A>G

Select item 142590905214.

rs1425909052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:167869094 (GRCh38)
2:168725604 (GRCh37)
Canonical SPDI:: NC_000002.12:167869093:G:A
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.167869094G>A, NC_000002.11:g.168725604G>A, NG_050644.1:g.581034G>A, NM_020981.4:c.55G>A, NM_020981.3:c.55G>A, XM_006712819.4:c.55G>A, XM_006712819.3:c.55G>A, XM_006712819.2:c.55G>A, XM_006712819.1:c.55G>A, XM_011512085.3:c.55G>A, XM_011512085.2:c.55G>A, XM_011512085.1:c.55G>A, XM_047446159.1:c.55G>A, XM_047446160.1:c.55G>A, NP_066191.1:p.Ala19Thr, XP_006712882.1:p.Ala19Thr, XP_011510387.1:p.Ala19Thr, XP_047302115.1:p.Ala19Thr, XP_047302116.1:p.Ala19Thr

Select item 142293246715.

rs1422932467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:167869574 (GRCh38)
2:168726084 (GRCh37)
Canonical SPDI:: NC_000002.12:167869573:G:A
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.167869574G>A, NC_000002.11:g.168726084G>A, NG_050644.1:g.581514G>A, NM_020981.4:c.535G>A, NM_020981.3:c.535G>A, XM_006712819.4:c.535G>A, XM_006712819.3:c.535G>A, XM_006712819.2:c.535G>A, XM_006712819.1:c.535G>A, XM_011512085.3:c.535G>A, XM_011512085.2:c.535G>A, XM_011512085.1:c.535G>A, XM_047446159.1:c.535G>A, XM_047446160.1:c.535G>A, NP_066191.1:p.Asp179Asn, XP_006712882.1:p.Asp179Asn, XP_011510387.1:p.Asp179Asn, XP_047302115.1:p.Asp179Asn, XP_047302116.1:p.Asp179Asn

Select item 141977706416.

rs1419777064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:167869588 (GRCh38)
2:168726098 (GRCh37)
Canonical SPDI:: NC_000002.12:167869587:C:T
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.167869588C>T, NC_000002.11:g.168726098C>T, NG_050644.1:g.581528C>T, NM_020981.4:c.549C>T, NM_020981.3:c.549C>T, XM_006712819.4:c.549C>T, XM_006712819.3:c.549C>T, XM_006712819.2:c.549C>T, XM_006712819.1:c.549C>T, XM_011512085.3:c.549C>T, XM_011512085.2:c.549C>T, XM_011512085.1:c.549C>T, XM_047446159.1:c.549C>T, XM_047446160.1:c.549C>T

Select item 141068486617.

rs1410684866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:167869250 (GRCh38)
2:168725760 (GRCh37)
Canonical SPDI:: NC_000002.12:167869249:A:G
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.167869250A>G, NC_000002.11:g.168725760A>G, NG_050644.1:g.581190A>G, NM_020981.4:c.211A>G, NM_020981.3:c.211A>G, XM_006712819.4:c.211A>G, XM_006712819.3:c.211A>G, XM_006712819.2:c.211A>G, XM_006712819.1:c.211A>G, XM_011512085.3:c.211A>G, XM_011512085.2:c.211A>G, XM_011512085.1:c.211A>G, XM_047446159.1:c.211A>G, XM_047446160.1:c.211A>G, NP_066191.1:p.Asn71Asp, XP_006712882.1:p.Asn71Asp, XP_011510387.1:p.Asn71Asp, XP_047302115.1:p.Asn71Asp, XP_047302116.1:p.Asn71Asp

Select item 140947262718.

rs1409472627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:167869778 (GRCh38)
2:168726288 (GRCh37)
Canonical SPDI:: NC_000002.12:167869777:G:A,NC_000002.12:167869777:G:T
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.167869778G>A, NC_000002.12:g.167869778G>T, NC_000002.11:g.168726288G>A, NC_000002.11:g.168726288G>T, NG_050644.1:g.581718G>A, NG_050644.1:g.581718G>T, NM_020981.4:c.739G>A, NM_020981.4:c.739G>T, NM_020981.3:c.739G>A, NM_020981.3:c.739G>T, XM_006712819.4:c.739G>A, XM_006712819.4:c.739G>T, XM_006712819.3:c.739G>A, XM_006712819.3:c.739G>T, XM_006712819.2:c.739G>A, XM_006712819.2:c.739G>T, XM_006712819.1:c.739G>A, XM_006712819.1:c.739G>T, XM_011512085.3:c.739G>A, XM_011512085.3:c.739G>T, XM_011512085.2:c.739G>A, XM_011512085.2:c.739G>T, XM_011512085.1:c.739G>A, XM_011512085.1:c.739G>T, XM_047446159.1:c.739G>A, XM_047446159.1:c.739G>T, XM_047446160.1:c.739G>A, XM_047446160.1:c.739G>T, NR_131227.1:n.290C>T, NR_131227.1:n.290C>A, NP_066191.1:p.Val247Ile, NP_066191.1:p.Val247Leu, XP_006712882.1:p.Val247Ile, XP_006712882.1:p.Val247Leu, XP_011510387.1:p.Val247Ile, XP_011510387.1:p.Val247Leu, XP_047302115.1:p.Val247Ile, XP_047302115.1:p.Val247Leu, XP_047302116.1:p.Val247Ile, XP_047302116.1:p.Val247Leu

Select item 139662157119.

rs1396621571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:167869887 (GRCh38)
2:168726397 (GRCh37)
Canonical SPDI:: NC_000002.12:167869886:G:A
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.167869887G>A, NC_000002.11:g.168726397G>A, NG_050644.1:g.581827G>A, NM_020981.4:c.848G>A, NM_020981.3:c.848G>A, XM_006712819.4:c.848G>A, XM_006712819.3:c.848G>A, XM_006712819.2:c.848G>A, XM_006712819.1:c.848G>A, XM_011512085.3:c.848G>A, XM_011512085.2:c.848G>A, XM_011512085.1:c.848G>A, XM_047446159.1:c.848G>A, XM_047446160.1:c.848G>A, NR_131227.1:n.181C>T, NP_066191.1:p.Ser283Asn, XP_006712882.1:p.Ser283Asn, XP_011510387.1:p.Ser283Asn, XP_047302115.1:p.Ser283Asn, XP_047302116.1:p.Ser283Asn

Select item 139484394720.

rs1394843947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:167869712 (GRCh38)
2:168726222 (GRCh37)
Canonical SPDI:: NC_000002.12:167869711:G:A
Gene:: B3GALT1 (Varview), B3GALT1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.167869712G>A, NC_000002.11:g.168726222G>A, NG_050644.1:g.581652G>A, NM_020981.4:c.673G>A, NM_020981.3:c.673G>A, XM_006712819.4:c.673G>A, XM_006712819.3:c.673G>A, XM_006712819.2:c.673G>A, XM_006712819.1:c.673G>A, XM_011512085.3:c.673G>A, XM_011512085.2:c.673G>A, XM_011512085.1:c.673G>A, XM_047446159.1:c.673G>A, XM_047446160.1:c.673G>A, NP_066191.1:p.Asp225Asn, XP_006712882.1:p.Asp225Asn, XP_011510387.1:p.Asp225Asn, XP_047302115.1:p.Asp225Asn, XP_047302116.1:p.Asp225Asn

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