SNP Links for Protein (Select 18699730) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:111206734 (GRCh38)
6:111527937 (GRCh37)
Canonical SPDI:: NC_000006.12:111206733:A:G
Gene:: SLC16A10 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.111206734A>G, NC_000006.11:g.111527937A>G, NM_018593.5:c.1085A>G, NM_018593.4:c.1085A>G, NP_061063.2:p.Gln362Arg

Select item 14731841306.

rs1473184130 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:111222124 (GRCh38)
6:111543327 (GRCh37)
Canonical SPDI:: NC_000006.12:111222118:AGAGAGA:AGAGA
Gene:: SLC16A10 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111222120GA[2], NC_000006.11:g.111543323GA[2], NM_018593.5:c.1437_1438del, NM_018593.4:c.1437_1438del, NP_061063.2:p.Glu479fs

Select item 14730246007.

rs1473024600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:111087930 (GRCh38)
6:111409133 (GRCh37)
Canonical SPDI:: NC_000006.12:111087929:G:C
Gene:: SLC16A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.111087930G>C, NC_000006.11:g.111409133G>C, NM_018593.5:c.178G>C, NM_018593.4:c.178G>C, XM_006715329.3:c.178G>C, XM_006715329.2:c.178G>C, XM_006715329.1:c.178G>C, XM_011535422.3:c.178G>C, XM_011535422.2:c.178G>C, XM_011535422.1:c.178G>C, XM_047418167.1:c.178G>C, NP_061063.2:p.Glu60Gln, XP_006715392.1:p.Glu60Gln, XP_011533724.1:p.Glu60Gln, XP_047274123.1:p.Glu60Gln

Select item 14716514568.

rs1471651456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:111177596 (GRCh38)
6:111498799 (GRCh37)
Canonical SPDI:: NC_000006.12:111177595:A:T
Gene:: SLC16A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000029/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.111177596A>T, NC_000006.11:g.111498799A>T, NM_018593.5:c.873A>T, NM_018593.4:c.873A>T, XM_006715329.3:c.873A>T, XM_006715329.2:c.873A>T, XM_006715329.1:c.873A>T, XM_011535422.3:c.873A>T, XM_011535422.2:c.873A>T, XM_011535422.1:c.873A>T, XM_047418167.1:c.873A>T

Select item 14693738769.

rs1469373876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:111088088 (GRCh38)
6:111409291 (GRCh37)
Canonical SPDI:: NC_000006.12:111088087:T:C
Gene:: SLC16A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.111088088T>C, NC_000006.11:g.111409291T>C, NM_018593.5:c.336T>C, NM_018593.4:c.336T>C, XM_006715329.3:c.336T>C, XM_006715329.2:c.336T>C, XM_006715329.1:c.336T>C, XM_011535422.3:c.336T>C, XM_011535422.2:c.336T>C, XM_011535422.1:c.336T>C, XM_047418167.1:c.336T>C

Select item 146876821210.

rs1468768212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:111218883 (GRCh38)
6:111540086 (GRCh37)
Canonical SPDI:: NC_000006.12:111218882:A:G
Gene:: SLC16A10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.111218883A>G, NC_000006.11:g.111540086A>G, NM_018593.5:c.1156A>G, NM_018593.4:c.1156A>G, NP_061063.2:p.Ile386Val

Select item 146562649611.

rs1465626496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:111087878 (GRCh38)
6:111409081 (GRCh37)
Canonical SPDI:: NC_000006.12:111087877:T:C
Gene:: SLC16A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111087878T>C, NC_000006.11:g.111409081T>C, NM_018593.5:c.126T>C, NM_018593.4:c.126T>C, XM_006715329.3:c.126T>C, XM_006715329.2:c.126T>C, XM_006715329.1:c.126T>C, XM_011535422.3:c.126T>C, XM_011535422.2:c.126T>C, XM_011535422.1:c.126T>C, XM_047418167.1:c.126T>C

Select item 146496828212.

rs1464968282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:111219012 (GRCh38)
6:111540215 (GRCh37)
Canonical SPDI:: NC_000006.12:111219011:A:G
Gene:: SLC16A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111219012A>G, NC_000006.11:g.111540215A>G, NM_018593.5:c.1285A>G, NM_018593.4:c.1285A>G, NP_061063.2:p.Ile429Val

Select item 146225735213.

rs1462257352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:111218836 (GRCh38)
6:111540039 (GRCh37)
Canonical SPDI:: NC_000006.12:111218835:G:A,NC_000006.12:111218835:G:T
Gene:: SLC16A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/1 (ALFA)
A=0.00055/1 (Korea1K)
HGVS:: NC_000006.12:g.111218836G>A, NC_000006.12:g.111218836G>T, NC_000006.11:g.111540039G>A, NC_000006.11:g.111540039G>T, NM_018593.5:c.1109G>A, NM_018593.5:c.1109G>T, NM_018593.4:c.1109G>A, NM_018593.4:c.1109G>T, NP_061063.2:p.Gly370Asp, NP_061063.2:p.Gly370Val

Select item 146190275214.

rs1461902752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:111172749 (GRCh38)
6:111493952 (GRCh37)
Canonical SPDI:: NC_000006.12:111172748:G:A,NC_000006.12:111172748:G:C
Gene:: SLC16A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111172749G>A, NC_000006.12:g.111172749G>C, NC_000006.11:g.111493952G>A, NC_000006.11:g.111493952G>C, NM_018593.5:c.398G>A, NM_018593.5:c.398G>C, NM_018593.4:c.398G>A, NM_018593.4:c.398G>C, XM_006715329.3:c.398G>A, XM_006715329.3:c.398G>C, XM_006715329.2:c.398G>A, XM_006715329.2:c.398G>C, XM_006715329.1:c.398G>A, XM_006715329.1:c.398G>C, XM_011535422.3:c.398G>A, XM_011535422.3:c.398G>C, XM_011535422.2:c.398G>A, XM_011535422.2:c.398G>C, XM_011535422.1:c.398G>A, XM_011535422.1:c.398G>C, XM_047418167.1:c.398G>A, XM_047418167.1:c.398G>C, NP_061063.2:p.Ser133Asn, NP_061063.2:p.Ser133Thr, XP_006715392.1:p.Ser133Asn, XP_006715392.1:p.Ser133Thr, XP_011533724.1:p.Ser133Asn, XP_011533724.1:p.Ser133Thr, XP_047274123.1:p.Ser133Asn, XP_047274123.1:p.Ser133Thr

Select item 146178540915.

rs1461785409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:111218977 (GRCh38)
6:111540180 (GRCh37)
Canonical SPDI:: NC_000006.12:111218976:C:A,NC_000006.12:111218976:C:T
Gene:: SLC16A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.111218977C>A, NC_000006.12:g.111218977C>T, NC_000006.11:g.111540180C>A, NC_000006.11:g.111540180C>T, NM_018593.5:c.1250C>A, NM_018593.5:c.1250C>T, NM_018593.4:c.1250C>A, NM_018593.4:c.1250C>T, NP_061063.2:p.Ser417Tyr, NP_061063.2:p.Ser417Phe

Select item 146155579116.

rs1461555791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:111222068 (GRCh38)
6:111543271 (GRCh37)
Canonical SPDI:: NC_000006.12:111222067:A:T
Gene:: SLC16A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000006.12:g.111222068A>T, NC_000006.11:g.111543271A>T, NM_018593.5:c.1381A>T, NM_018593.4:c.1381A>T, NP_061063.2:p.Ile461Phe

Select item 145827697017.

rs1458276970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:111222036 (GRCh38)
6:111543239 (GRCh37)
Canonical SPDI:: NC_000006.12:111222035:T:C
Gene:: SLC16A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111222036T>C, NC_000006.11:g.111543239T>C, NM_018593.5:c.1349T>C, NM_018593.4:c.1349T>C, NP_061063.2:p.Val450Ala

Select item 145269188318.

rs1452691883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:111219000 (GRCh38)
6:111540203 (GRCh37)
Canonical SPDI:: NC_000006.12:111218999:G:A
Gene:: SLC16A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.111219000G>A, NC_000006.11:g.111540203G>A, NM_018593.5:c.1273G>A, NM_018593.4:c.1273G>A, NP_061063.2:p.Gly425Arg

Select item 145022911419.

rs1450229114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:111088058 (GRCh38)
6:111409261 (GRCh37)
Canonical SPDI:: NC_000006.12:111088057:C:T
Gene:: SLC16A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.111088058C>T, NC_000006.11:g.111409261C>T, NM_018593.5:c.306C>T, NM_018593.4:c.306C>T, XM_006715329.3:c.306C>T, XM_006715329.2:c.306C>T, XM_006715329.1:c.306C>T, XM_011535422.3:c.306C>T, XM_011535422.2:c.306C>T, XM_011535422.1:c.306C>T, XM_047418167.1:c.306C>T

Select item 144808233020.

rs1448082330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:111177448 (GRCh38)
6:111498651 (GRCh37)
Canonical SPDI:: NC_000006.12:111177447:T:C
Gene:: SLC16A10 (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_000006.12:g.111177448T>C, NC_000006.11:g.111498651T>C, NM_018593.5:c.725T>C, NM_018593.4:c.725T>C, XM_006715329.3:c.725T>C, XM_006715329.2:c.725T>C, XM_006715329.1:c.725T>C, XM_011535422.3:c.725T>C, XM_011535422.2:c.725T>C, XM_011535422.1:c.725T>C, XM_047418167.1:c.725T>C, NP_061063.2:p.Phe242Ser, XP_006715392.1:p.Phe242Ser, XP_011533724.1:p.Phe242Ser, XP_047274123.1:p.Phe242Ser

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