SNP Links for Protein (Select 38679890) - SNP

Links from Protein

Items: 1 to 20 of 720

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Select item 14909866231.

rs1490986623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:102257269 (GRCh38)
5:101592973 (GRCh37)
Canonical SPDI:: NC_000005.10:102257268:C:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.102257269C>G, NC_000005.9:g.101592973C>G, NM_180991.5:c.1315G>C, NM_180991.4:c.1315G>C, XM_011543370.3:c.1051G>C, XM_011543370.2:c.1051G>C, XM_011543370.1:c.1051G>C, XM_011543372.2:c.901G>C, XM_011543372.1:c.901G>C, XM_047417146.1:c.901G>C, NP_851322.3:p.Gly439Arg, XP_011541672.1:p.Gly351Arg, XP_011541674.1:p.Gly301Arg, XP_047273102.1:p.Gly301Arg

Select item 14903516802.

rs1490351680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:102247412 (GRCh38)
5:101583116 (GRCh37)
Canonical SPDI:: NC_000005.10:102247411:T:C
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.102247412T>C, NC_000005.9:g.101583116T>C, NM_180991.5:c.1651A>G, NM_180991.4:c.1651A>G, XM_011543370.3:c.1387A>G, XM_011543370.2:c.1387A>G, XM_011543370.1:c.1387A>G, XM_011543372.2:c.1237A>G, XM_011543372.1:c.1237A>G, XM_047417146.1:c.1237A>G, NP_851322.3:p.Lys551Glu, XP_011541672.1:p.Lys463Glu, XP_011541674.1:p.Lys413Glu, XP_047273102.1:p.Lys413Glu

Select item 14897563273.

rs1489756327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:102296194 (GRCh38)
5:101631898 (GRCh37)
Canonical SPDI:: NC_000005.10:102296193:C:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.102296194C>G, NC_000005.9:g.101631898C>G, NM_180991.5:c.69G>C, NM_180991.4:c.69G>C, XM_011543370.3:c.69G>C, XM_011543370.2:c.69G>C, XM_011543370.1:c.69G>C, XM_011543372.2:c.-546G>C, XM_047417146.1:c.-483G>C, NP_851322.3:p.Leu23Phe, XP_011541672.1:p.Leu23Phe

Select item 14895215914.

rs1489521591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:102239353 (GRCh38)
5:101575057 (GRCh37)
Canonical SPDI:: NC_000005.10:102239352:T:C
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.102239353T>C, NC_000005.9:g.101575057T>C, NM_180991.5:c.1912A>G, NM_180991.4:c.1912A>G, XM_011543370.3:c.1648A>G, XM_011543370.2:c.1648A>G, XM_011543370.1:c.1648A>G, XM_011543372.2:c.1498A>G, XM_011543372.1:c.1498A>G, XM_047417146.1:c.1498A>G, NP_851322.3:p.Ile638Val, XP_011541672.1:p.Ile550Val, XP_011541674.1:p.Ile500Val, XP_047273102.1:p.Ile500Val

Select item 14877902225.

rs1487790222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:102291359 (GRCh38)
5:101627063 (GRCh37)
Canonical SPDI:: NC_000005.10:102291358:C:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.102291359C>G, NC_000005.9:g.101627063C>G, NM_180991.5:c.603G>C, NM_180991.4:c.603G>C, XM_011543372.2:c.189G>C, XM_011543372.1:c.189G>C, XM_047417146.1:c.189G>C, NP_851322.3:p.Leu201Phe, XP_011541674.1:p.Leu63Phe, XP_047273102.1:p.Leu63Phe

Select item 14820655366.

rs1482065536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:102258050 (GRCh38)
5:101593754 (GRCh37)
Canonical SPDI:: NC_000005.10:102258049:A:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.102258050A>G, NC_000005.9:g.101593754A>G, NM_180991.5:c.1166T>C, NM_180991.4:c.1166T>C, XM_011543370.3:c.902T>C, XM_011543370.2:c.902T>C, XM_011543370.1:c.902T>C, XM_011543372.2:c.752T>C, XM_011543372.1:c.752T>C, XM_047417146.1:c.752T>C, NP_851322.3:p.Leu389Pro, XP_011541672.1:p.Leu301Pro, XP_011541674.1:p.Leu251Pro, XP_047273102.1:p.Leu251Pro

Select item 14807208627.

rs1480720862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:102263692 (GRCh38)
5:101599396 (GRCh37)
Canonical SPDI:: NC_000005.10:102263691:C:A
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.102263692C>A, NC_000005.9:g.101599396C>A, NM_180991.5:c.891G>T, NM_180991.4:c.891G>T, XM_011543370.3:c.627G>T, XM_011543370.2:c.627G>T, XM_011543370.1:c.627G>T, XM_011543372.2:c.477G>T, XM_011543372.1:c.477G>T, XM_047417146.1:c.477G>T, NP_851322.3:p.Met297Ile, XP_011541672.1:p.Met209Ile, XP_011541674.1:p.Met159Ile, XP_047273102.1:p.Met159Ile

Select item 14805856048.

rs1480585604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:102261969 (GRCh38)
5:101597673 (GRCh37)
Canonical SPDI:: NC_000005.10:102261968:A:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000005.10:g.102261969A>G, NC_000005.9:g.101597673A>G, NM_180991.5:c.964T>C, NM_180991.4:c.964T>C, XM_011543370.3:c.700T>C, XM_011543370.2:c.700T>C, XM_011543370.1:c.700T>C, XM_011543372.2:c.550T>C, XM_011543372.1:c.550T>C, XM_047417146.1:c.550T>C, NP_851322.3:p.Trp322Arg, XP_011541672.1:p.Trp234Arg, XP_011541674.1:p.Trp184Arg, XP_047273102.1:p.Trp184Arg

Select item 14795640919.

rs1479564091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:102239371 (GRCh38)
5:101575075 (GRCh37)
Canonical SPDI:: NC_000005.10:102239370:T:C
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.102239371T>C, NC_000005.9:g.101575075T>C, NM_180991.5:c.1894A>G, NM_180991.4:c.1894A>G, XM_011543370.3:c.1630A>G, XM_011543370.2:c.1630A>G, XM_011543370.1:c.1630A>G, XM_011543372.2:c.1480A>G, XM_011543372.1:c.1480A>G, XM_047417146.1:c.1480A>G, NP_851322.3:p.Ile632Val, XP_011541672.1:p.Ile544Val, XP_011541674.1:p.Ile494Val, XP_047273102.1:p.Ile494Val

Select item 147832695710.

rs1478326957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:102270674 (GRCh38)
5:101606378 (GRCh37)
Canonical SPDI:: NC_000005.10:102270673:G:C
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.102270674G>C, NC_000005.9:g.101606378G>C, NM_180991.5:c.752C>G, NM_180991.4:c.752C>G, XM_011543370.3:c.488C>G, XM_011543370.2:c.488C>G, XM_011543370.1:c.488C>G, XM_011543372.2:c.338C>G, XM_011543372.1:c.338C>G, XM_047417146.1:c.338C>G, NP_851322.3:p.Thr251Arg, XP_011541672.1:p.Thr163Arg, XP_011541674.1:p.Thr113Arg, XP_047273102.1:p.Thr113Arg

Select item 147745827511.

rs1477458275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:102291547 (GRCh38)
5:101627251 (GRCh37)
Canonical SPDI:: NC_000005.10:102291546:T:C
Gene:: SLCO4C1 (Varview)
Functional Consequence:: initiator_codon_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.102291547T>C, NC_000005.9:g.101627251T>C, NM_180991.5:c.415A>G, NM_180991.4:c.415A>G, XM_011543372.2:c.1A>G, XM_011543372.1:c.1A>G, XM_047417146.1:c.1A>G, NP_851322.3:p.Met139Val, XP_011541674.1:p.Met1Val, XP_047273102.1:p.Met1Val

Select item 147710530012.

rs1477105300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:102262009 (GRCh38)
5:101597713 (GRCh37)
Canonical SPDI:: NC_000005.10:102262008:C:T
Gene:: SLCO4C1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.102262009C>T, NC_000005.9:g.101597713C>T, NM_180991.5:c.924G>A, NM_180991.4:c.924G>A, XM_011543370.3:c.660G>A, XM_011543370.2:c.660G>A, XM_011543370.1:c.660G>A, XM_011543372.2:c.510G>A, XM_011543372.1:c.510G>A, XM_047417146.1:c.510G>A

Select item 147412088513.

rs1474120885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:102296062 (GRCh38)
5:101631766 (GRCh37)
Canonical SPDI:: NC_000005.10:102296061:A:T
Gene:: SLCO4C1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.102296062A>T, NC_000005.9:g.101631766A>T, NM_180991.5:c.201T>A, NM_180991.4:c.201T>A, XM_011543370.3:c.201T>A, XM_011543370.2:c.201T>A, XM_011543370.1:c.201T>A, XM_011543372.2:c.-414T>A, XM_047417146.1:c.-351T>A

Select item 147242988614.

rs1472429886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:102239378 (GRCh38)
5:101575082 (GRCh37)
Canonical SPDI:: NC_000005.10:102239377:A:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.102239378A>G, NC_000005.9:g.101575082A>G, NM_180991.5:c.1887T>C, NM_180991.4:c.1887T>C, XM_011543370.3:c.1623T>C, XM_011543370.2:c.1623T>C, XM_011543370.1:c.1623T>C, XM_011543372.2:c.1473T>C, XM_011543372.1:c.1473T>C, XM_047417146.1:c.1473T>C

Select item 147088550415.

rs1470885504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:102295947 (GRCh38)
5:101631651 (GRCh37)
Canonical SPDI:: NC_000005.10:102295946:C:T
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.102295947C>T, NC_000005.9:g.101631651C>T, NM_180991.5:c.316G>A, NM_180991.4:c.316G>A, XM_011543370.3:c.316G>A, XM_011543370.2:c.316G>A, XM_011543370.1:c.316G>A, XM_011543372.2:c.-299G>A, XM_011543372.1:c.-299G>A, XM_047417146.1:c.-236G>A, NP_851322.3:p.Gly106Ser, XP_011541672.1:p.Gly106Ser

Select item 147069451016.

rs1470694510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:102239313 (GRCh38)
5:101575017 (GRCh37)
Canonical SPDI:: NC_000005.10:102239312:C:A
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.102239313C>A, NC_000005.9:g.101575017C>A, NM_180991.5:c.1952G>T, NM_180991.4:c.1952G>T, XM_011543370.3:c.1688G>T, XM_011543370.2:c.1688G>T, XM_011543370.1:c.1688G>T, XM_011543372.2:c.1538G>T, XM_011543372.1:c.1538G>T, XM_047417146.1:c.1538G>T, NP_851322.3:p.Gly651Val, XP_011541672.1:p.Gly563Val, XP_011541674.1:p.Gly513Val, XP_047273102.1:p.Gly513Val

Select item 147038688417.

rs1470386884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:102258066 (GRCh38)
5:101593770 (GRCh37)
Canonical SPDI:: NC_000005.10:102258065:A:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.102258066A>G, NC_000005.9:g.101593770A>G, NM_180991.5:c.1150T>C, NM_180991.4:c.1150T>C, XM_011543370.3:c.886T>C, XM_011543370.2:c.886T>C, XM_011543370.1:c.886T>C, XM_011543372.2:c.736T>C, XM_011543372.1:c.736T>C, XM_047417146.1:c.736T>C, NP_851322.3:p.Phe384Leu, XP_011541672.1:p.Phe296Leu, XP_011541674.1:p.Phe246Leu, XP_047273102.1:p.Phe246Leu

Select item 147025973818.

rs1470259738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:102239267 (GRCh38)
5:101574971 (GRCh37)
Canonical SPDI:: NC_000005.10:102239266:A:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.102239267A>G, NC_000005.9:g.101574971A>G, NM_180991.5:c.1998T>C, NM_180991.4:c.1998T>C, XM_011543370.3:c.1734T>C, XM_011543370.2:c.1734T>C, XM_011543370.1:c.1734T>C, XM_011543372.2:c.1584T>C, XM_011543372.1:c.1584T>C, XM_047417146.1:c.1584T>C

Select item 146970270719.

rs1469702707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:102270658 (GRCh38)
5:101606362 (GRCh37)
Canonical SPDI:: NC_000005.10:102270657:A:G
Gene:: SLCO4C1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.102270658A>G, NC_000005.9:g.101606362A>G, NM_180991.5:c.768T>C, NM_180991.4:c.768T>C, XM_011543370.3:c.504T>C, XM_011543370.2:c.504T>C, XM_011543370.1:c.504T>C, XM_011543372.2:c.354T>C, XM_011543372.1:c.354T>C, XM_047417146.1:c.354T>C

Select item 146950711620.

rs1469507116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:102291354 (GRCh38)
5:101627058 (GRCh37)
Canonical SPDI:: NC_000005.10:102291353:G:A
Gene:: SLCO4C1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.102291354G>A, NC_000005.9:g.101627058G>A, NM_180991.5:c.608C>T, NM_180991.4:c.608C>T, XM_011543372.2:c.194C>T, XM_011543372.1:c.194C>T, XM_047417146.1:c.194C>T, NP_851322.3:p.Ser203Phe, XP_011541674.1:p.Ser65Phe, XP_047273102.1:p.Ser65Phe

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