SNP Links for Protein (Select 11545841) - SNP

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Links from Protein

Items: 1 to 20 of 536

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Select item 14903236581.

rs1490323658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39770618 (GRCh38)
1:40236290 (GRCh37)
Canonical SPDI:: NC_000001.11:39770617:C:T
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770618C>T, NC_000001.10:g.40236290C>T, NM_022120.2:c.638G>A, NM_022120.1:c.638G>A, NP_071403.1:p.Trp213Ter

Select item 14900065772.

rs1490006577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:39771065 (GRCh38)
1:40236737 (GRCh37)
Canonical SPDI:: NC_000001.11:39771064:A:C
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.39771065A>C, NC_000001.10:g.40236737A>C, NM_022120.2:c.191T>G, NM_022120.1:c.191T>G, NP_071403.1:p.Phe64Cys

Select item 14889158023.

rs1488915802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:39770088 (GRCh38)
1:40235760 (GRCh37)
Canonical SPDI:: NC_000001.11:39770087:G:A,NC_000001.11:39770087:G:C
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00005/1 (ALFA)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770088G>A, NC_000001.11:g.39770088G>C, NC_000001.10:g.40235760G>A, NC_000001.10:g.40235760G>C, NM_022120.2:c.1168C>T, NM_022120.2:c.1168C>G, NM_022120.1:c.1168C>T, NM_022120.1:c.1168C>G, NP_071403.1:p.His390Tyr, NP_071403.1:p.His390Asp

Select item 14881657834.

rs1488165783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39769992 (GRCh38)
1:40235664 (GRCh37)
Canonical SPDI:: NC_000001.11:39769991:C:T
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39769992C>T, NC_000001.10:g.40235664C>T, NM_022120.2:c.1264G>A, NM_022120.1:c.1264G>A, NP_071403.1:p.Gly422Ser

Select item 14879349415.

rs1487934941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39769781 (GRCh38)
1:40235453 (GRCh37)
Canonical SPDI:: NC_000001.11:39769780:A:G
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39769781A>G, NC_000001.10:g.40235453A>G, NM_022120.2:c.1475T>C, NM_022120.1:c.1475T>C, NP_071403.1:p.Val492Ala

Select item 14857170846.

rs1485717084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39771073 (GRCh38)
1:40236745 (GRCh37)
Canonical SPDI:: NC_000001.11:39771072:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39771073G>A, NC_000001.10:g.40236745G>A, NM_022120.2:c.183C>T, NM_022120.1:c.183C>T

Select item 14847064637.

rs1484706463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39770811 (GRCh38)
1:40236483 (GRCh37)
Canonical SPDI:: NC_000001.11:39770810:C:T
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770811C>T, NC_000001.10:g.40236483C>T, NM_022120.2:c.445G>A, NM_022120.1:c.445G>A, NP_071403.1:p.Gly149Ser

Select item 14844062398.

rs1484406239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39770097 (GRCh38)
1:40235769 (GRCh37)
Canonical SPDI:: NC_000001.11:39770096:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770097G>A, NC_000001.10:g.40235769G>A, NM_022120.2:c.1159C>T, NM_022120.1:c.1159C>T, NP_071403.1:p.Arg387Ter

Select item 14828710279.

rs1482871027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:39769801 (GRCh38)
1:40235473 (GRCh37)
Canonical SPDI:: NC_000001.11:39769800:C:G,NC_000001.11:39769800:C:T
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.39769801C>G, NC_000001.11:g.39769801C>T, NC_000001.10:g.40235473C>G, NC_000001.10:g.40235473C>T, NM_022120.2:c.1455G>C, NM_022120.2:c.1455G>A, NM_022120.1:c.1455G>C, NM_022120.1:c.1455G>A, NP_071403.1:p.Glu485Asp

Select item 148133528510.

rs1481335285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39770962 (GRCh38)
1:40236634 (GRCh37)
Canonical SPDI:: NC_000001.11:39770961:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770962G>A, NC_000001.10:g.40236634G>A, NM_022120.2:c.294C>T, NM_022120.1:c.294C>T

Select item 148035376011.

rs1480353760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39770563 (GRCh38)
1:40236235 (GRCh37)
Canonical SPDI:: NC_000001.11:39770562:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.39770563G>A, NC_000001.10:g.40236235G>A, NM_022120.2:c.693C>T, NM_022120.1:c.693C>T

Select item 147958115112.

rs1479581151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39771040 (GRCh38)
1:40236712 (GRCh37)
Canonical SPDI:: NC_000001.11:39771039:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD_exomes)
A=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.39771040G>A, NC_000001.10:g.40236712G>A, NM_022120.2:c.216C>T, NM_022120.1:c.216C>T

Select item 147936454513.

rs1479364545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39770310 (GRCh38)
1:40235982 (GRCh37)
Canonical SPDI:: NC_000001.11:39770309:C:T
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770310C>T, NC_000001.10:g.40235982C>T, NM_022120.2:c.946G>A, NM_022120.1:c.946G>A, NP_071403.1:p.Ala316Thr

Select item 147898470014.

rs1478984700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:39770303 (GRCh38)
1:40235975 (GRCh37)
Canonical SPDI:: NC_000001.11:39770302:A:C,NC_000001.11:39770302:A:G
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.39770303A>C, NC_000001.11:g.39770303A>G, NC_000001.10:g.40235975A>C, NC_000001.10:g.40235975A>G, NM_022120.2:c.953T>G, NM_022120.2:c.953T>C, NM_022120.1:c.953T>G, NM_022120.1:c.953T>C, NP_071403.1:p.Leu318Arg, NP_071403.1:p.Leu318Pro

Select item 147743937915.

rs1477439379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39769741 (GRCh38)
1:40235413 (GRCh37)
Canonical SPDI:: NC_000001.11:39769740:C:T
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39769741C>T, NC_000001.10:g.40235413C>T, NM_022120.2:c.1515G>A, NM_022120.1:c.1515G>A

Select item 147729985116.

rs1477299851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39771149 (GRCh38)
1:40236821 (GRCh37)
Canonical SPDI:: NC_000001.11:39771148:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39771149G>A, NC_000001.10:g.40236821G>A, NM_022120.2:c.107C>T, NM_022120.1:c.107C>T, NP_071403.1:p.Pro36Leu

Select item 147436696117.

rs1474366961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39770720 (GRCh38)
1:40236392 (GRCh37)
Canonical SPDI:: NC_000001.11:39770719:T:C
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.39770720T>C, NC_000001.10:g.40236392T>C, NM_022120.2:c.536A>G, NM_022120.1:c.536A>G, NP_071403.1:p.His179Arg

Select item 147326706118.

rs1473267061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39769751 (GRCh38)
1:40235423 (GRCh37)
Canonical SPDI:: NC_000001.11:39769750:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.39769751G>A, NC_000001.10:g.40235423G>A, NM_022120.2:c.1505C>T, NM_022120.1:c.1505C>T, NP_071403.1:p.Ala502Val

Select item 147108878519.

rs1471088785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39770844 (GRCh38)
1:40236516 (GRCh37)
Canonical SPDI:: NC_000001.11:39770843:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00062/1 (ALFA)
A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39770844G>A, NC_000001.10:g.40236516G>A, NM_022120.2:c.412C>T, NM_022120.1:c.412C>T, NP_071403.1:p.Gln138Ter

Select item 147073879120.

rs1470738791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39770809 (GRCh38)
1:40236481 (GRCh37)
Canonical SPDI:: NC_000001.11:39770808:G:A
Gene:: BMP8B (Varview), OXCT2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.39770809G>A, NC_000001.10:g.40236481G>A, NM_022120.2:c.447C>T, NM_022120.1:c.447C>T