SNP Links for Protein (Select 166362724) - SNP

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Links from Protein

Items: 1 to 20 of 502

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Select item 14901146981.

rs1490114698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:42874751 (GRCh38)
3:42916243 (GRCh37)
Canonical SPDI:: NC_000003.12:42874750:G:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.42874751G>T, NC_000003.11:g.42916243G>T, NG_007970.1:g.6391C>A, NM_004391.3:c.1066C>A, NM_004391.2:c.1066C>A, NP_004382.2:p.Leu356Ile

Select item 14864100062.

rs1486410006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42875723 (GRCh38)
3:42917215 (GRCh37)
Canonical SPDI:: NC_000003.12:42875722:C:A
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42875723C>A, NC_000003.11:g.42917215C>A, NG_007970.1:g.5419G>T, NM_004391.3:c.94G>T, NM_004391.2:c.94G>T, NP_004382.2:p.Glu32Ter

Select item 14854296343.

rs1485429634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:42875422 (GRCh38)
3:42916914 (GRCh37)
Canonical SPDI:: NC_000003.12:42875421:C:G,NC_000003.12:42875421:C:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42875422C>G, NC_000003.12:g.42875422C>T, NC_000003.11:g.42916914C>G, NC_000003.11:g.42916914C>T, NG_007970.1:g.5720G>C, NG_007970.1:g.5720G>A, NM_004391.3:c.395G>C, NM_004391.3:c.395G>A, NM_004391.2:c.395G>C, NM_004391.2:c.395G>A, NP_004382.2:p.Arg132Thr, NP_004382.2:p.Arg132Lys

Select item 14854199874.

rs1485419987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:42874663 (GRCh38)
3:42916155 (GRCh37)
Canonical SPDI:: NC_000003.12:42874662:A:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874663A>T, NC_000003.11:g.42916155A>T, NG_007970.1:g.6479T>A, NM_004391.3:c.1154T>A, NM_004391.2:c.1154T>A, NP_004382.2:p.Phe385Tyr

Select item 14831255255.

rs1483125525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42875639 (GRCh38)
3:42917131 (GRCh37)
Canonical SPDI:: NC_000003.12:42875638:T:C
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42875639T>C, NC_000003.11:g.42917131T>C, NG_007970.1:g.5503A>G, NM_004391.3:c.178A>G, NM_004391.2:c.178A>G, NP_004382.2:p.Met60Val

Select item 14818717216.

rs1481871721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42875322 (GRCh38)
3:42916814 (GRCh37)
Canonical SPDI:: NC_000003.12:42875321:A:G
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
G=0.000566/9 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000003.12:g.42875322A>G, NC_000003.11:g.42916814A>G, NG_007970.1:g.5820T>C, NM_004391.3:c.495T>C, NM_004391.2:c.495T>C

Select item 14781034417.

rs1478103441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42874743 (GRCh38)
3:42916235 (GRCh37)
Canonical SPDI:: NC_000003.12:42874742:C:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42874743C>T, NC_000003.11:g.42916235C>T, NG_007970.1:g.6399G>A, NM_004391.3:c.1074G>A, NM_004391.2:c.1074G>A

Select item 14759456648.

rs1475945664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:42874919 (GRCh38)
3:42916411 (GRCh37)
Canonical SPDI:: NC_000003.12:42874918:T:A
Gene:: CYP8B1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.42874919T>A, NC_000003.11:g.42916411T>A, NG_007970.1:g.6223A>T, NM_004391.3:c.898A>T, NM_004391.2:c.898A>T, NP_004382.2:p.Lys300Ter

Select item 14750176899.

rs1475017689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42875357 (GRCh38)
3:42916849 (GRCh37)
Canonical SPDI:: NC_000003.12:42875356:A:G
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42875357A>G, NC_000003.11:g.42916849A>G, NG_007970.1:g.5785T>C, NM_004391.3:c.460T>C, NM_004391.2:c.460T>C, NP_004382.2:p.Ser154Pro

Select item 147499955810.

rs1474999558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42874603 (GRCh38)
3:42916095 (GRCh37)
Canonical SPDI:: NC_000003.12:42874602:T:C
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874603T>C, NC_000003.11:g.42916095T>C, NG_007970.1:g.6539A>G, NM_004391.3:c.1214A>G, NM_004391.2:c.1214A>G, NP_004382.2:p.Tyr405Cys

Select item 147474399511.

rs1474743995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42875254 (GRCh38)
3:42916746 (GRCh37)
Canonical SPDI:: NC_000003.12:42875253:T:C
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42875254T>C, NC_000003.11:g.42916746T>C, NG_007970.1:g.5888A>G, NM_004391.3:c.563A>G, NM_004391.2:c.563A>G, NP_004382.2:p.Tyr188Cys

Select item 147204093712.

rs1472040937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42875730 (GRCh38)
3:42917222 (GRCh37)
Canonical SPDI:: NC_000003.12:42875729:C:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000003.12:g.42875730C>T, NC_000003.11:g.42917222C>T, NG_007970.1:g.5412G>A, NM_004391.3:c.87G>A, NM_004391.2:c.87G>A

Select item 147049050213.

rs1470490502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42874907 (GRCh38)
3:42916399 (GRCh37)
Canonical SPDI:: NC_000003.12:42874906:C:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874907C>T, NC_000003.11:g.42916399C>T, NG_007970.1:g.6235G>A, NM_004391.3:c.910G>A, NM_004391.2:c.910G>A, NP_004382.2:p.Ala304Thr

Select item 146922547214.

rs1469225472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42874904 (GRCh38)
3:42916396 (GRCh37)
Canonical SPDI:: NC_000003.12:42874903:T:C
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42874904T>C, NC_000003.11:g.42916396T>C, NG_007970.1:g.6238A>G, NM_004391.3:c.913A>G, NM_004391.2:c.913A>G, NP_004382.2:p.Ile305Val

Select item 146342074815.

rs1463420748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:42875567 (GRCh38)
3:42917059 (GRCh37)
Canonical SPDI:: NC_000003.12:42875566:G:A,NC_000003.12:42875566:G:C,NC_000003.12:42875566:G:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42875567G>A, NC_000003.12:g.42875567G>C, NC_000003.12:g.42875567G>T, NC_000003.11:g.42917059G>A, NC_000003.11:g.42917059G>C, NC_000003.11:g.42917059G>T, NG_007970.1:g.5575C>T, NG_007970.1:g.5575C>G, NG_007970.1:g.5575C>A, NM_004391.3:c.250C>T, NM_004391.3:c.250C>G, NM_004391.3:c.250C>A, NM_004391.2:c.250C>T, NM_004391.2:c.250C>G, NM_004391.2:c.250C>A, NP_004382.2:p.Leu84Phe, NP_004382.2:p.Leu84Val, NP_004382.2:p.Leu84Ile

Select item 146335240416.

rs1463352404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:42874616 (GRCh38)
3:42916108 (GRCh37)
Canonical SPDI:: NC_000003.12:42874615:T:G
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874616T>G, NC_000003.11:g.42916108T>G, NG_007970.1:g.6526A>C, NM_004391.3:c.1201A>C, NM_004391.2:c.1201A>C, NP_004382.2:p.Thr401Pro

Select item 146335127417.

rs1463351274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:42874828 (GRCh38)
3:42916320 (GRCh37)
Canonical SPDI:: NC_000003.12:42874827:T:A,NC_000003.12:42874827:T:C
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874828T>A, NC_000003.12:g.42874828T>C, NC_000003.11:g.42916320T>A, NC_000003.11:g.42916320T>C, NG_007970.1:g.6314A>T, NG_007970.1:g.6314A>G, NM_004391.3:c.989A>T, NM_004391.3:c.989A>G, NM_004391.2:c.989A>T, NM_004391.2:c.989A>G, NP_004382.2:p.Lys330Ile, NP_004382.2:p.Lys330Arg

Select item 146271272018.

rs1462712720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:42874856 (GRCh38)
3:42916348 (GRCh37)
Canonical SPDI:: NC_000003.12:42874855:G:T
Gene:: CYP8B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.42874856G>T, NC_000003.11:g.42916348G>T, NG_007970.1:g.6286C>A, NM_004391.3:c.961C>A, NM_004391.2:c.961C>A, NP_004382.2:p.Leu321Met

Select item 146116339119.

rs1461163391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42874548 (GRCh38)
3:42916040 (GRCh37)
Canonical SPDI:: NC_000003.12:42874547:G:A
Gene:: CYP8B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874548G>A, NC_000003.11:g.42916040G>A, NG_007970.1:g.6594C>T, NM_004391.3:c.1269C>T, NM_004391.2:c.1269C>T

Select item 146025096920.

rs1460250969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:42874932 (GRCh38)
3:42916424 (GRCh37)
Canonical SPDI:: NC_000003.12:42874931:G:C
Gene:: CYP8B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42874932G>C, NC_000003.11:g.42916424G>C, NG_007970.1:g.6210C>G, NM_004391.3:c.885C>G, NM_004391.2:c.885C>G

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