SNP Links for Protein (Select 225543525) - SNP

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Links from Protein

Items: 1 to 20 of 741

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Select item 14897830861.

rs1489783086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:21200562 (GRCh38)
12:21353496 (GRCh37)
Canonical SPDI:: NC_000012.12:21200561:T:C
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21200562T>C, NC_000012.11:g.21353496T>C, NG_011745.1:g.74369T>C, NM_006446.5:c.1025T>C, NM_006446.4:c.1025T>C, NP_006437.3:p.Val342Ala

Select item 14896189862.

rs1489618986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:21196971 (GRCh38)
12:21349905 (GRCh37)
Canonical SPDI:: NC_000012.12:21196970:T:A
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21196971T>A, NC_000012.11:g.21349905T>A, NG_011745.1:g.70778T>A, NM_006446.5:c.753T>A, NM_006446.4:c.753T>A, NP_006437.3:p.Asp251Glu

Select item 14883717733.

rs1488371773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:21224822 (GRCh38)
12:21377756 (GRCh37)
Canonical SPDI:: NC_000012.12:21224821:T:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21224822T>G, NC_000012.11:g.21377756T>G, NG_011745.1:g.98629T>G, NM_006446.5:c.1848T>G, NM_006446.4:c.1848T>G, NP_006437.3:p.Tyr616Ter

Select item 14875278934.

rs1487527893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:21239182 (GRCh38)
12:21392116 (GRCh37)
Canonical SPDI:: NC_000012.12:21239181:A:T
Gene:: SLCO1B1 (Varview), LOC124902895 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21239182A>T, NC_000012.11:g.21392116A>T, NG_011745.1:g.112989A>T, NM_006446.5:c.2069A>T, NM_006446.4:c.2069A>T, NP_006437.3:p.His690Leu

Select item 14826113655.

rs1482611365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:21200611 (GRCh38)
12:21353545 (GRCh37)
Canonical SPDI:: NC_000012.12:21200610:T:A
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21200611T>A, NC_000012.11:g.21353545T>A, NG_011745.1:g.74418T>A, NM_006446.5:c.1074T>A, NM_006446.4:c.1074T>A, NP_006437.3:p.Tyr358Ter

Select item 14801738466.

rs1480173846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:21239129 (GRCh38)
12:21392063 (GRCh37)
Canonical SPDI:: NC_000012.12:21239128:C:A
Gene:: SLCO1B1 (Varview), LOC124902895 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21239129C>A, NC_000012.11:g.21392063C>A, NG_011745.1:g.112936C>A, NM_006446.5:c.2016C>A, NM_006446.4:c.2016C>A

Select item 14801258147.

rs1480125814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21205974 (GRCh38)
12:21358908 (GRCh37)
Canonical SPDI:: NC_000012.12:21205973:A:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21205974A>G, NC_000012.11:g.21358908A>G, NG_011745.1:g.79781A>G, NM_006446.5:c.1438A>G, NM_006446.4:c.1438A>G, NP_006437.3:p.Thr480Ala

Select item 14795990928.

rs1479599092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:21172756 (GRCh38)
12:21325690 (GRCh37)
Canonical SPDI:: NC_000012.12:21172755:C:A,NC_000012.12:21172755:C:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.21172756C>A, NC_000012.12:g.21172756C>G, NC_000012.11:g.21325690C>A, NC_000012.11:g.21325690C>G, NG_011745.1:g.46563C>A, NG_011745.1:g.46563C>G, NM_006446.5:c.191C>A, NM_006446.5:c.191C>G, NM_006446.4:c.191C>A, NM_006446.4:c.191C>G, NP_006437.3:p.Ser64Tyr, NP_006437.3:p.Ser64Cys

Select item 14793464629.

rs1479346462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:21200519 (GRCh38)
12:21353453 (GRCh37)
Canonical SPDI:: NC_000012.12:21200518:T:A
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21200519T>A, NC_000012.11:g.21353453T>A, NG_011745.1:g.74326T>A, NM_006446.5:c.982T>A, NM_006446.4:c.982T>A, NP_006437.3:p.Ser328Thr

Select item 147902148110.

rs1479021481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:21141594 (GRCh38)
12:21294528 (GRCh37)
Canonical SPDI:: NC_000012.12:21141593:T:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.21141594T>G, NC_000012.11:g.21294528T>G, NG_011745.1:g.15401T>G, NM_006446.5:c.20T>G, NM_006446.4:c.20T>G, NP_006437.3:p.Leu7Trp

Select item 147637820811.

rs1476378208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:21174668 (GRCh38)
12:21327602 (GRCh37)
Canonical SPDI:: NC_000012.12:21174667:T:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.21174668T>G, NC_000012.11:g.21327602T>G, NG_011745.1:g.48475T>G, NM_006446.5:c.318T>G, NM_006446.4:c.318T>G, NP_006437.3:p.Ile106Met

Select item 147464825112.

rs1474648251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:21217250 (GRCh38)
12:21370184 (GRCh37)
Canonical SPDI:: NC_000012.12:21217249:G:A
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21217250G>A, NC_000012.11:g.21370184G>A, NG_011745.1:g.91057G>A, NM_006446.5:c.1629G>A, NM_006446.4:c.1629G>A

Select item 147282469213.

rs1472824692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21200618 (GRCh38)
12:21353552 (GRCh37)
Canonical SPDI:: NC_000012.12:21200617:A:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21200618A>G, NC_000012.11:g.21353552A>G, NG_011745.1:g.74425A>G, NM_006446.5:c.1081A>G, NM_006446.4:c.1081A>G, NP_006437.3:p.Lys361Glu

Select item 147120292314.

rs1471202923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:21172791 (GRCh38)
12:21325725 (GRCh37)
Canonical SPDI:: NC_000012.12:21172790:G:C
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21172791G>C, NC_000012.11:g.21325725G>C, NG_011745.1:g.46598G>C, NM_006446.5:c.226G>C, NM_006446.4:c.226G>C, NP_006437.3:p.Gly76Arg

Select item 146665449015.

rs1466654490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:21141579 (GRCh38)
12:21294513 (GRCh37)
Canonical SPDI:: NC_000012.12:21141578:A:G,NC_000012.12:21141578:A:T
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21141579A>G, NC_000012.12:g.21141579A>T, NC_000012.11:g.21294513A>G, NC_000012.11:g.21294513A>T, NG_011745.1:g.15386A>G, NG_011745.1:g.15386A>T, NM_006446.5:c.5A>G, NM_006446.5:c.5A>T, NM_006446.4:c.5A>G, NM_006446.4:c.5A>T, NP_006437.3:p.Asp2Gly, NP_006437.3:p.Asp2Val

Select item 146487889616.

rs1464878896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:21178670 (GRCh38)
12:21331604 (GRCh37)
Canonical SPDI:: NC_000012.12:21178669:G:A,NC_000012.12:21178669:G:T
Gene:: SLCO1B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
A=0.000212/4 (TOMMO)
HGVS:: NC_000012.12:g.21178670G>A, NC_000012.12:g.21178670G>T, NC_000012.11:g.21331604G>A, NC_000012.11:g.21331604G>T, NG_011745.1:g.52477G>A, NG_011745.1:g.52477G>T, NM_006446.5:c.576G>A, NM_006446.5:c.576G>T, NM_006446.4:c.576G>A, NM_006446.4:c.576G>T

Select item 146442402817.

rs1464424028 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTGGCAGCTCTGT>- [Show Flanks]
Chromosome:: 12:21172654 (GRCh38)
12:21325588 (GRCh37)
Canonical SPDI:: NC_000012.12:21172650:TGTTCTTGGCAGCTCTGT:TGT
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.21172654_21172668del, NC_000012.11:g.21325588_21325602del, NG_011745.1:g.46461_46475del, NM_006446.5:c.89_103del, NM_006446.4:c.89_103del, NP_006437.3:p.Phe30_Leu34del

Select item 146436786318.

rs1464367863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21178641 (GRCh38)
12:21331575 (GRCh37)
Canonical SPDI:: NC_000012.12:21178640:A:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.21178641A>G, NC_000012.11:g.21331575A>G, NG_011745.1:g.52448A>G, NM_006446.5:c.547A>G, NM_006446.4:c.547A>G, NP_006437.3:p.Ile183Val

Select item 146398190919.

rs1463981909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21200660 (GRCh38)
12:21353594 (GRCh37)
Canonical SPDI:: NC_000012.12:21200659:A:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21200660A>G, NC_000012.11:g.21353594A>G, NG_011745.1:g.74467A>G, NM_006446.5:c.1123A>G, NM_006446.4:c.1123A>G, NP_006437.3:p.Asn375Asp

Select item 146353055420.

rs1463530554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:21176837 (GRCh38)
12:21329771 (GRCh37)
Canonical SPDI:: NC_000012.12:21176836:A:C,NC_000012.12:21176836:A:G
Gene:: SLCO1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.21176837A>C, NC_000012.12:g.21176837A>G, NC_000012.11:g.21329771A>C, NC_000012.11:g.21329771A>G, NG_011745.1:g.50644A>C, NG_011745.1:g.50644A>G, NM_006446.5:c.421A>C, NM_006446.5:c.421A>G, NM_006446.4:c.421A>C, NM_006446.4:c.421A>G, NP_006437.3:p.Thr141Pro, NP_006437.3:p.Thr141Ala

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