SNP Links for Nucleotide (Select 767943781) - SNP

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Select item 14904559671.

rs1490455967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110442564 (GRCh38)
6:110763767 (GRCh37)
Canonical SPDI:: NC_000006.12:110442563:A:G
Gene:: SLC22A16 (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=0.000004/1 (TOPMED)
G=0.000991/17 (TOMMO)
G=0.001369/4 (KOREAN)
HGVS:: NC_000006.12:g.110442564A>G, NC_000006.11:g.110763767A>G, XM_011536204.4:c.734T>C, XM_011536204.3:c.734T>C, XM_011536204.2:c.734T>C, XM_011536204.1:c.734T>C, NM_033125.4:c.863T>C, NM_033125.3:c.863T>C, XM_011536209.4:c.458T>C, XM_011536209.3:c.458T>C, XM_011536209.2:c.458T>C, XM_011536209.1:c.458T>C, XM_011536207.4:c.509T>C, XM_011536207.3:c.509T>C, XM_011536207.2:c.509T>C, XM_011536207.1:c.509T>C, XM_011536208.4:c.473T>C, XM_011536208.3:c.473T>C, XM_011536208.2:c.473T>C, XM_011536208.1:c.473T>C, XM_011536205.3:c.863T>C, XM_011536205.2:c.863T>C, XM_011536205.1:c.863T>C, XM_011536206.3:c.581T>C, XM_011536206.2:c.581T>C, XM_011536206.1:c.581T>C, XM_011536211.3:c.383T>C, XM_011536211.2:c.383T>C, XM_011536211.1:c.383T>C, XM_011536212.3:c.173T>C, XM_011536212.2:c.173T>C, XM_011536212.1:c.173T>C, XM_047419435.1:c.383T>C, XM_011536210.1:c.863T>C, XP_011534506.1:p.Leu245Pro, NP_149116.2:p.Leu288Pro, XP_011534511.1:p.Leu153Pro, XP_011534509.1:p.Leu170Pro, XP_011534510.1:p.Leu158Pro, XP_011534507.1:p.Leu288Pro, XP_011534508.1:p.Leu194Pro, XP_011534513.1:p.Leu128Pro, XP_011534514.1:p.Leu58Pro, XP_047275391.1:p.Leu128Pro, XP_011534512.1:p.Leu288Pro

Select item 14903363562.

rs1490336356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:110476527 (GRCh38)
6:110797730 (GRCh37)
Canonical SPDI:: NC_000006.12:110476526:G:A
Gene:: SLC22A16 (Varview), LOC105377938 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.110476527G>A, NC_000006.11:g.110797730G>A, NM_033125.4:c.48C>T, NM_033125.3:c.48C>T, XM_011536209.4:c.-165C>T, XM_011536209.3:c.-165C>T, XM_011536209.2:c.-165C>T, XM_011536209.1:c.-165C>T, XM_011536208.4:c.20C>T, XM_011536208.3:c.20C>T, XM_011536208.2:c.20C>T, XM_011536208.1:c.20C>T, XM_011536205.3:c.48C>T, XM_011536205.2:c.48C>T, XM_011536205.1:c.48C>T, XM_011536206.3:c.48C>T, XM_011536206.2:c.48C>T, XM_011536206.1:c.48C>T, XM_011536211.3:c.48C>T, XM_011536211.2:c.48C>T, XM_011536211.1:c.48C>T, XM_047419435.1:c.48C>T, XM_011536210.1:c.48C>T, XP_011534510.1:p.Ser7Leu

Select item 14858104303.

rs1485810430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:110476569 (GRCh38)
6:110797772 (GRCh37)
Canonical SPDI:: NC_000006.12:110476568:C:T
Gene:: SLC22A16 (Varview), LOC105377938 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,genic_upstream_transcript_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.110476569C>T, NC_000006.11:g.110797772C>T, NM_033125.4:c.6G>A, NM_033125.3:c.6G>A, XM_011536209.4:c.-207G>A, XM_011536209.3:c.-207G>A, XM_011536209.2:c.-207G>A, XM_011536209.1:c.-207G>A, XM_011536208.4:c.-23G>A, XM_011536208.3:c.-23G>A, XM_011536208.2:c.-23G>A, XM_011536208.1:c.-23G>A, XM_011536205.3:c.6G>A, XM_011536205.2:c.6G>A, XM_011536205.1:c.6G>A, XM_011536206.3:c.6G>A, XM_011536206.2:c.6G>A, XM_011536206.1:c.6G>A, XM_011536211.3:c.6G>A, XM_011536211.2:c.6G>A, XM_011536211.1:c.6G>A, XM_047419435.1:c.6G>A, XM_011536210.1:c.6G>A

Select item 14826089084.

rs1482608908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:110456549 (GRCh38)
6:110777752 (GRCh37)
Canonical SPDI:: NC_000006.12:110456548:G:T
Gene:: SLC22A16 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,stop_gained,intron_variant
HGVS:: NC_000006.12:g.110456549G>T, NC_000006.11:g.110777752G>T, XM_011536204.4:c.393C>A, XM_011536204.3:c.393C>A, XM_011536204.2:c.393C>A, XM_011536204.1:c.393C>A, NM_033125.4:c.522C>A, NM_033125.3:c.522C>A, XM_011536205.3:c.522C>A, XM_011536205.2:c.522C>A, XM_011536205.1:c.522C>A, XM_011536212.3:c.-51C>A, XM_011536212.2:c.-51C>A, XM_011536212.1:c.-51C>A, XM_011536210.1:c.522C>A, XP_011534506.1:p.Tyr131Ter, NP_149116.2:p.Tyr174Ter, XP_011534507.1:p.Tyr174Ter, XP_011534512.1:p.Tyr174Ter

Select item 14824526405.

rs1482452640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:110476537 (GRCh38)
6:110797740 (GRCh37)
Canonical SPDI:: NC_000006.12:110476536:A:C,NC_000006.12:110476536:A:G
Gene:: SLC22A16 (Varview), LOC105377938 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (GnomAD)
C=0.00053/9 (TOMMO)
HGVS:: NC_000006.12:g.110476537A>C, NC_000006.12:g.110476537A>G, NC_000006.11:g.110797740A>C, NC_000006.11:g.110797740A>G, NM_033125.4:c.38T>G, NM_033125.4:c.38T>C, NM_033125.3:c.38T>G, NM_033125.3:c.38T>C, XM_011536209.4:c.-175T>G, XM_011536209.4:c.-175T>C, XM_011536209.3:c.-175T>G, XM_011536209.3:c.-175T>C, XM_011536209.2:c.-175T>G, XM_011536209.2:c.-175T>C, XM_011536209.1:c.-175T>G, XM_011536209.1:c.-175T>C, XM_011536208.4:c.10T>G, XM_011536208.4:c.10T>C, XM_011536208.3:c.10T>G, XM_011536208.3:c.10T>C, XM_011536208.2:c.10T>G, XM_011536208.2:c.10T>C, XM_011536208.1:c.10T>G, XM_011536208.1:c.10T>C, XM_011536205.3:c.38T>G, XM_011536205.3:c.38T>C, XM_011536205.2:c.38T>G, XM_011536205.2:c.38T>C, XM_011536205.1:c.38T>G, XM_011536205.1:c.38T>C, XM_011536206.3:c.38T>G, XM_011536206.3:c.38T>C, XM_011536206.2:c.38T>G, XM_011536206.2:c.38T>C, XM_011536206.1:c.38T>G, XM_011536206.1:c.38T>C, XM_011536211.3:c.38T>G, XM_011536211.3:c.38T>C, XM_011536211.2:c.38T>G, XM_011536211.2:c.38T>C, XM_011536211.1:c.38T>G, XM_011536211.1:c.38T>C, XM_047419435.1:c.38T>G, XM_047419435.1:c.38T>C, XM_011536210.1:c.38T>G, XM_011536210.1:c.38T>C, NP_149116.2:p.Val13Gly, NP_149116.2:p.Val13Ala, XP_011534510.1:p.Trp4Gly, XP_011534510.1:p.Trp4Arg, XP_011534507.1:p.Val13Gly, XP_011534507.1:p.Val13Ala, XP_011534508.1:p.Val13Gly, XP_011534508.1:p.Val13Ala, XP_011534513.1:p.Val13Gly, XP_011534513.1:p.Val13Ala, XP_047275391.1:p.Val13Gly, XP_047275391.1:p.Val13Ala, XP_011534512.1:p.Val13Gly, XP_011534512.1:p.Val13Ala

Select item 14819056596.

rs1481905659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:110456937 (GRCh38)
6:110778140 (GRCh37)
Canonical SPDI:: NC_000006.12:110456936:C:A
Gene:: SLC22A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110456937C>A, NC_000006.11:g.110778140C>A, XM_011536204.4:c.5G>T, XM_011536204.3:c.5G>T, XM_011536204.2:c.5G>T, XM_011536204.1:c.5G>T, NM_033125.4:c.134G>T, NM_033125.3:c.134G>T, XM_011536209.4:c.91G>T, XM_011536209.3:c.91G>T, XM_011536209.2:c.91G>T, XM_011536209.1:c.91G>T, XM_011536207.4:c.142G>T, XM_011536207.3:c.142G>T, XM_011536207.2:c.142G>T, XM_011536207.1:c.142G>T, XM_011536208.4:c.106G>T, XM_011536208.3:c.106G>T, XM_011536208.2:c.106G>T, XM_011536208.1:c.106G>T, XM_011536205.3:c.134G>T, XM_011536205.2:c.134G>T, XM_011536205.1:c.134G>T, XM_011536206.3:c.134G>T, XM_011536206.2:c.134G>T, XM_011536206.1:c.134G>T, XM_011536211.3:c.134G>T, XM_011536211.2:c.134G>T, XM_011536211.1:c.134G>T, XM_047419435.1:c.134G>T, XM_011536210.1:c.134G>T, XP_011534506.1:p.Gly2Val, NP_149116.2:p.Gly45Val, XP_011534511.1:p.Glu31Ter, XP_011534509.1:p.Glu48Ter, XP_011534510.1:p.Glu36Ter, XP_011534507.1:p.Gly45Val, XP_011534508.1:p.Gly45Val, XP_011534513.1:p.Gly45Val, XP_047275391.1:p.Gly45Val, XP_011534512.1:p.Gly45Val

Select item 14809457837.

rs1480945783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:110456591 (GRCh38)
6:110777794 (GRCh37)
Canonical SPDI:: NC_000006.12:110456590:T:A
Gene:: SLC22A16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.110456591T>A, NC_000006.11:g.110777794T>A, XM_011536204.4:c.351A>T, XM_011536204.3:c.351A>T, XM_011536204.2:c.351A>T, XM_011536204.1:c.351A>T, NM_033125.4:c.480A>T, NM_033125.3:c.480A>T, XM_011536205.3:c.480A>T, XM_011536205.2:c.480A>T, XM_011536205.1:c.480A>T, XM_011536212.3:c.-93A>T, XM_011536212.2:c.-93A>T, XM_011536212.1:c.-93A>T, XM_011536210.1:c.480A>T

Select item 14779811518.

rs1477981151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:110431255 (GRCh38)
6:110752458 (GRCh37)
Canonical SPDI:: NC_000006.12:110431254:T:A
Gene:: SLC22A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110431255T>A, NC_000006.11:g.110752458T>A, XM_011536204.4:c.1308A>T, XM_011536204.3:c.1308A>T, XM_011536204.2:c.1308A>T, XM_011536204.1:c.1308A>T, NM_033125.4:c.1437A>T, NM_033125.3:c.1437A>T, XM_011536209.4:c.1032A>T, XM_011536209.3:c.1032A>T, XM_011536209.2:c.1032A>T, XM_011536209.1:c.1032A>T, XM_011536207.4:c.1083A>T, XM_011536207.3:c.1083A>T, XM_011536207.2:c.1083A>T, XM_011536207.1:c.1083A>T, XM_011536208.4:c.1047A>T, XM_011536208.3:c.1047A>T, XM_011536208.2:c.1047A>T, XM_011536208.1:c.1047A>T, XM_011536205.3:c.1437A>T, XM_011536205.2:c.1437A>T, XM_011536205.1:c.1437A>T, XM_011536206.3:c.1155A>T, XM_011536206.2:c.1155A>T, XM_011536206.1:c.1155A>T, XM_011536211.3:c.957A>T, XM_011536211.2:c.957A>T, XM_011536211.1:c.957A>T, XM_011536212.3:c.747A>T, XM_011536212.2:c.747A>T, XM_011536212.1:c.747A>T, XM_047419435.1:c.957A>T, XM_011536210.1:c.*37A>T

Select item 14767274149.

rs1476727414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:110442272 (GRCh38)
6:110763475 (GRCh37)
Canonical SPDI:: NC_000006.12:110442271:G:A
Gene:: SLC22A16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.110442272G>A, NC_000006.11:g.110763475G>A, XM_011536204.4:c.1026C>T, XM_011536204.3:c.1026C>T, XM_011536204.2:c.1026C>T, XM_011536204.1:c.1026C>T, NM_033125.4:c.1155C>T, NM_033125.3:c.1155C>T, XM_011536209.4:c.750C>T, XM_011536209.3:c.750C>T, XM_011536209.2:c.750C>T, XM_011536209.1:c.750C>T, XM_011536207.4:c.801C>T, XM_011536207.3:c.801C>T, XM_011536207.2:c.801C>T, XM_011536207.1:c.801C>T, XM_011536208.4:c.765C>T, XM_011536208.3:c.765C>T, XM_011536208.2:c.765C>T, XM_011536208.1:c.765C>T, XM_011536205.3:c.1155C>T, XM_011536205.2:c.1155C>T, XM_011536205.1:c.1155C>T, XM_011536206.3:c.873C>T, XM_011536206.2:c.873C>T, XM_011536206.1:c.873C>T, XM_011536211.3:c.675C>T, XM_011536211.2:c.675C>T, XM_011536211.1:c.675C>T, XM_011536212.3:c.465C>T, XM_011536212.2:c.465C>T, XM_011536212.1:c.465C>T, XM_047419435.1:c.675C>T, XM_011536210.1:c.1155C>T

Select item 147455825510.

rs1474558255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:110476587 (GRCh38)
6:110797790 (GRCh37)
Canonical SPDI:: NC_000006.12:110476586:C:G,NC_000006.12:110476586:C:T
Gene:: SLC22A16 (Varview), LOC105377938 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.110476587C>G, NC_000006.12:g.110476587C>T, NC_000006.11:g.110797790C>G, NC_000006.11:g.110797790C>T, NM_033125.4:c.-13G>C, NM_033125.4:c.-13G>A, NM_033125.3:c.-13G>C, NM_033125.3:c.-13G>A, XM_011536209.4:c.-225G>C, XM_011536209.4:c.-225G>A, XM_011536209.3:c.-225G>C, XM_011536209.3:c.-225G>A, XM_011536209.2:c.-225G>C, XM_011536209.2:c.-225G>A, XM_011536209.1:c.-225G>C, XM_011536209.1:c.-225G>A, XM_011536208.4:c.-41G>C, XM_011536208.4:c.-41G>A, XM_011536208.3:c.-41G>C, XM_011536208.3:c.-41G>A, XM_011536208.2:c.-41G>C, XM_011536208.2:c.-41G>A, XM_011536208.1:c.-41G>C, XM_011536208.1:c.-41G>A, XM_011536205.3:c.-13G>C, XM_011536205.3:c.-13G>A, XM_011536205.2:c.-13G>C, XM_011536205.2:c.-13G>A, XM_011536205.1:c.-13G>C, XM_011536205.1:c.-13G>A, XM_011536206.3:c.-13G>C, XM_011536206.3:c.-13G>A, XM_011536206.2:c.-13G>C, XM_011536206.2:c.-13G>A, XM_011536206.1:c.-13G>C, XM_011536206.1:c.-13G>A, XM_011536211.3:c.-13G>C, XM_011536211.3:c.-13G>A, XM_011536211.2:c.-13G>C, XM_011536211.2:c.-13G>A, XM_011536211.1:c.-13G>C, XM_011536211.1:c.-13G>A, XM_047419435.1:c.-13G>C, XM_047419435.1:c.-13G>A, XM_011536210.1:c.-13G>C, XM_011536210.1:c.-13G>A

Select item 147442089011.

rs1474420890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:110442724 (GRCh38)
6:110763927 (GRCh37)
Canonical SPDI:: NC_000006.12:110442723:C:T
Gene:: SLC22A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.110442724C>T, NC_000006.11:g.110763927C>T, XM_011536204.4:c.574G>A, XM_011536204.3:c.574G>A, XM_011536204.2:c.574G>A, XM_011536204.1:c.574G>A, NM_033125.4:c.703G>A, NM_033125.3:c.703G>A, XM_011536209.4:c.298G>A, XM_011536209.3:c.298G>A, XM_011536209.2:c.298G>A, XM_011536209.1:c.298G>A, XM_011536207.4:c.349G>A, XM_011536207.3:c.349G>A, XM_011536207.2:c.349G>A, XM_011536207.1:c.349G>A, XM_011536208.4:c.313G>A, XM_011536208.3:c.313G>A, XM_011536208.2:c.313G>A, XM_011536208.1:c.313G>A, XM_011536205.3:c.703G>A, XM_011536205.2:c.703G>A, XM_011536205.1:c.703G>A, XM_011536206.3:c.421G>A, XM_011536206.2:c.421G>A, XM_011536206.1:c.421G>A, XM_011536211.3:c.223G>A, XM_011536211.2:c.223G>A, XM_011536211.1:c.223G>A, XM_011536212.3:c.13G>A, XM_011536212.2:c.13G>A, XM_011536212.1:c.13G>A, XM_047419435.1:c.223G>A, XM_011536210.1:c.703G>A, XP_011534506.1:p.Gly192Ser, NP_149116.2:p.Gly235Ser, XP_011534511.1:p.Gly100Ser, XP_011534509.1:p.Gly117Ser, XP_011534510.1:p.Gly105Ser, XP_011534507.1:p.Gly235Ser, XP_011534508.1:p.Gly141Ser, XP_011534513.1:p.Gly75Ser, XP_011534514.1:p.Gly5Ser, XP_047275391.1:p.Gly75Ser, XP_011534512.1:p.Gly235Ser

Select item 147269480912.

rs1472694809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:110442497 (GRCh38)
6:110763700 (GRCh37)
Canonical SPDI:: NC_000006.12:110442496:G:A,NC_000006.12:110442496:G:T
Gene:: SLC22A16 (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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.110442497G>A, NC_000006.12:g.110442497G>T, NC_000006.11:g.110763700G>A, NC_000006.11:g.110763700G>T, XM_011536204.4:c.801C>T, XM_011536204.4:c.801C>A, XM_011536204.3:c.801C>T, XM_011536204.3:c.801C>A, XM_011536204.2:c.801C>T, XM_011536204.2:c.801C>A, XM_011536204.1:c.801C>T, XM_011536204.1:c.801C>A, NM_033125.4:c.930C>T, NM_033125.4:c.930C>A, NM_033125.3:c.930C>T, NM_033125.3:c.930C>A, XM_011536209.4:c.525C>T, XM_011536209.4:c.525C>A, XM_011536209.3:c.525C>T, XM_011536209.3:c.525C>A, XM_011536209.2:c.525C>T, XM_011536209.2:c.525C>A, XM_011536209.1:c.525C>T, XM_011536209.1:c.525C>A, XM_011536207.4:c.576C>T, XM_011536207.4:c.576C>A, XM_011536207.3:c.576C>T, XM_011536207.3:c.576C>A, XM_011536207.2:c.576C>T, XM_011536207.2:c.576C>A, XM_011536207.1:c.576C>T, XM_011536207.1:c.576C>A, XM_011536208.4:c.540C>T, XM_011536208.4:c.540C>A, XM_011536208.3:c.540C>T, XM_011536208.3:c.540C>A, XM_011536208.2:c.540C>T, XM_011536208.2:c.540C>A, XM_011536208.1:c.540C>T, XM_011536208.1:c.540C>A, XM_011536205.3:c.930C>T, XM_011536205.3:c.930C>A, XM_011536205.2:c.930C>T, XM_011536205.2:c.930C>A, XM_011536205.1:c.930C>T, XM_011536205.1:c.930C>A, XM_011536206.3:c.648C>T, XM_011536206.3:c.648C>A, XM_011536206.2:c.648C>T, XM_011536206.2:c.648C>A, XM_011536206.1:c.648C>T, XM_011536206.1:c.648C>A, XM_011536211.3:c.450C>T, XM_011536211.3:c.450C>A, XM_011536211.2:c.450C>T, XM_011536211.2:c.450C>A, XM_011536211.1:c.450C>T, XM_011536211.1:c.450C>A, XM_011536212.3:c.240C>T, XM_011536212.3:c.240C>A, XM_011536212.2:c.240C>T, XM_011536212.2:c.240C>A, XM_011536212.1:c.240C>T, XM_011536212.1:c.240C>A, XM_047419435.1:c.450C>T, XM_047419435.1:c.450C>A, XM_011536210.1:c.930C>T, XM_011536210.1:c.930C>A

Select item 147107011813.

rs1471070118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:110442417 (GRCh38)
6:110763620 (GRCh37)
Canonical SPDI:: NC_000006.12:110442416:C:T
Gene:: SLC22A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110442417C>T, NC_000006.11:g.110763620C>T, XM_011536204.4:c.881G>A, XM_011536204.3:c.881G>A, XM_011536204.2:c.881G>A, XM_011536204.1:c.881G>A, NM_033125.4:c.1010G>A, NM_033125.3:c.1010G>A, XM_011536209.4:c.605G>A, XM_011536209.3:c.605G>A, XM_011536209.2:c.605G>A, XM_011536209.1:c.605G>A, XM_011536207.4:c.656G>A, XM_011536207.3:c.656G>A, XM_011536207.2:c.656G>A, XM_011536207.1:c.656G>A, XM_011536208.4:c.620G>A, XM_011536208.3:c.620G>A, XM_011536208.2:c.620G>A, XM_011536208.1:c.620G>A, XM_011536205.3:c.1010G>A, XM_011536205.2:c.1010G>A, XM_011536205.1:c.1010G>A, XM_011536206.3:c.728G>A, XM_011536206.2:c.728G>A, XM_011536206.1:c.728G>A, XM_011536211.3:c.530G>A, XM_011536211.2:c.530G>A, XM_011536211.1:c.530G>A, XM_011536212.3:c.320G>A, XM_011536212.2:c.320G>A, XM_011536212.1:c.320G>A, XM_047419435.1:c.530G>A, XM_011536210.1:c.1010G>A, XP_011534506.1:p.Ser294Asn, NP_149116.2:p.Ser337Asn, XP_011534511.1:p.Ser202Asn, XP_011534509.1:p.Ser219Asn, XP_011534510.1:p.Ser207Asn, XP_011534507.1:p.Ser337Asn, XP_011534508.1:p.Ser243Asn, XP_011534513.1:p.Ser177Asn, XP_011534514.1:p.Ser107Asn, XP_047275391.1:p.Ser177Asn, XP_011534512.1:p.Ser337Asn

Select item 146946417414.

rs1469464174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:110442409 (GRCh38)
6:110763612 (GRCh37)
Canonical SPDI:: NC_000006.12:110442408:C:A
Gene:: SLC22A16 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.110442409C>A, NC_000006.11:g.110763612C>A, XM_011536204.4:c.889G>T, XM_011536204.3:c.889G>T, XM_011536204.2:c.889G>T, XM_011536204.1:c.889G>T, NM_033125.4:c.1018G>T, NM_033125.3:c.1018G>T, XM_011536209.4:c.613G>T, XM_011536209.3:c.613G>T, XM_011536209.2:c.613G>T, XM_011536209.1:c.613G>T, XM_011536207.4:c.664G>T, XM_011536207.3:c.664G>T, XM_011536207.2:c.664G>T, XM_011536207.1:c.664G>T, XM_011536208.4:c.628G>T, XM_011536208.3:c.628G>T, XM_011536208.2:c.628G>T, XM_011536208.1:c.628G>T, XM_011536205.3:c.1018G>T, XM_011536205.2:c.1018G>T, XM_011536205.1:c.1018G>T, XM_011536206.3:c.736G>T, XM_011536206.2:c.736G>T, XM_011536206.1:c.736G>T, XM_011536211.3:c.538G>T, XM_011536211.2:c.538G>T, XM_011536211.1:c.538G>T, XM_011536212.3:c.328G>T, XM_011536212.2:c.328G>T, XM_011536212.1:c.328G>T, XM_047419435.1:c.538G>T, XM_011536210.1:c.1018G>T, XP_011534506.1:p.Glu297Ter, NP_149116.2:p.Glu340Ter, XP_011534511.1:p.Glu205Ter, XP_011534509.1:p.Glu222Ter, XP_011534510.1:p.Glu210Ter, XP_011534507.1:p.Glu340Ter, XP_011534508.1:p.Glu246Ter, XP_011534513.1:p.Glu180Ter, XP_011534514.1:p.Glu110Ter, XP_047275391.1:p.Glu180Ter, XP_011534512.1:p.Glu340Ter

Select item 146938242515.

rs1469382425 has merged into rs775791770 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 6:110442677 (GRCh38)
6:110763880 (GRCh37)
Canonical SPDI:: NC_000006.12:110442676:AAAAAA:AAAAA,NC_000006.12:110442676:AAAAAA:AAAAAAA
Gene:: SLC22A16 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000016/2 (ExAC)
HGVS:: NC_000006.12:g.110442682del, NC_000006.12:g.110442682dup, NC_000006.11:g.110763885del, NC_000006.11:g.110763885dup, XM_011536204.4:c.621del, XM_011536204.4:c.621dup, XM_011536204.3:c.621del, XM_011536204.3:c.621dup, XM_011536204.2:c.621del, XM_011536204.2:c.621dup, XM_011536204.1:c.621del, XM_011536204.1:c.621dup, NM_033125.4:c.750del, NM_033125.4:c.750dup, NM_033125.3:c.750del, NM_033125.3:c.750dup, XM_011536209.4:c.345del, XM_011536209.4:c.345dup, XM_011536209.3:c.345del, XM_011536209.3:c.345dup, XM_011536209.2:c.345del, XM_011536209.2:c.345dup, XM_011536209.1:c.345del, XM_011536209.1:c.345dup, XM_011536207.4:c.396del, XM_011536207.4:c.396dup, XM_011536207.3:c.396del, XM_011536207.3:c.396dup, XM_011536207.2:c.396del, XM_011536207.2:c.396dup, XM_011536207.1:c.396del, XM_011536207.1:c.396dup, XM_011536208.4:c.360del, XM_011536208.4:c.360dup, XM_011536208.3:c.360del, XM_011536208.3:c.360dup, XM_011536208.2:c.360del, XM_011536208.2:c.360dup, XM_011536208.1:c.360del, XM_011536208.1:c.360dup, XM_011536205.3:c.750del, XM_011536205.3:c.750dup, XM_011536205.2:c.750del, XM_011536205.2:c.750dup, XM_011536205.1:c.750del, XM_011536205.1:c.750dup, XM_011536206.3:c.468del, XM_011536206.3:c.468dup, XM_011536206.2:c.468del, XM_011536206.2:c.468dup, XM_011536206.1:c.468del, XM_011536206.1:c.468dup, XM_011536211.3:c.270del, XM_011536211.3:c.270dup, XM_011536211.2:c.270del, XM_011536211.2:c.270dup, XM_011536211.1:c.270del, XM_011536211.1:c.270dup, XM_011536212.3:c.60del, XM_011536212.3:c.60dup, XM_011536212.2:c.60del, XM_011536212.2:c.60dup, XM_011536212.1:c.60del, XM_011536212.1:c.60dup, XM_047419435.1:c.270del, XM_047419435.1:c.270dup, XM_011536210.1:c.750del, XM_011536210.1:c.750dup, XP_011534506.1:p.Phe207fs, XP_011534506.1:p.Ala208fs, NP_149116.2:p.Phe250fs, NP_149116.2:p.Ala251fs, XP_011534511.1:p.Phe115fs, XP_011534511.1:p.Ala116fs, XP_011534509.1:p.Phe132fs, XP_011534509.1:p.Ala133fs, XP_011534510.1:p.Phe120fs, XP_011534510.1:p.Ala121fs, XP_011534507.1:p.Phe250fs, XP_011534507.1:p.Ala251fs, XP_011534508.1:p.Phe156fs, XP_011534508.1:p.Ala157fs, XP_011534513.1:p.Phe90fs, XP_011534513.1:p.Ala91fs, XP_011534514.1:p.Phe20fs, XP_011534514.1:p.Ala21fs, XP_047275391.1:p.Phe90fs, XP_047275391.1:p.Ala91fs, XP_011534512.1:p.Phe250fs, XP_011534512.1:p.Ala251fs

Select item 146489135116.

rs1464891351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:110456691 (GRCh38)
6:110777894 (GRCh37)
Canonical SPDI:: NC_000006.12:110456690:T:A
Gene:: SLC22A16 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110456691T>A, NC_000006.11:g.110777894T>A, XM_011536204.4:c.251A>T, XM_011536204.3:c.251A>T, XM_011536204.2:c.251A>T, XM_011536204.1:c.251A>T, NM_033125.4:c.380A>T, NM_033125.3:c.380A>T, XM_011536205.3:c.380A>T, XM_011536205.2:c.380A>T, XM_011536205.1:c.380A>T, XM_011536210.1:c.380A>T, XP_011534506.1:p.Asp84Val, NP_149116.2:p.Asp127Val, XP_011534507.1:p.Asp127Val, XP_011534512.1:p.Asp127Val

Select item 146461278617.

rs1464612786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:110442514 (GRCh38)
6:110763717 (GRCh37)
Canonical SPDI:: NC_000006.12:110442513:G:T
Gene:: SLC22A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110442514G>T, NC_000006.11:g.110763717G>T, XM_011536204.4:c.784C>A, XM_011536204.3:c.784C>A, XM_011536204.2:c.784C>A, XM_011536204.1:c.784C>A, NM_033125.4:c.913C>A, NM_033125.3:c.913C>A, XM_011536209.4:c.508C>A, XM_011536209.3:c.508C>A, XM_011536209.2:c.508C>A, XM_011536209.1:c.508C>A, XM_011536207.4:c.559C>A, XM_011536207.3:c.559C>A, XM_011536207.2:c.559C>A, XM_011536207.1:c.559C>A, XM_011536208.4:c.523C>A, XM_011536208.3:c.523C>A, XM_011536208.2:c.523C>A, XM_011536208.1:c.523C>A, XM_011536205.3:c.913C>A, XM_011536205.2:c.913C>A, XM_011536205.1:c.913C>A, XM_011536206.3:c.631C>A, XM_011536206.2:c.631C>A, XM_011536206.1:c.631C>A, XM_011536211.3:c.433C>A, XM_011536211.2:c.433C>A, XM_011536211.1:c.433C>A, XM_011536212.3:c.223C>A, XM_011536212.2:c.223C>A, XM_011536212.1:c.223C>A, XM_047419435.1:c.433C>A, XM_011536210.1:c.913C>A, XP_011534506.1:p.Gln262Lys, NP_149116.2:p.Gln305Lys, XP_011534511.1:p.Gln170Lys, XP_011534509.1:p.Gln187Lys, XP_011534510.1:p.Gln175Lys, XP_011534507.1:p.Gln305Lys, XP_011534508.1:p.Gln211Lys, XP_011534513.1:p.Gln145Lys, XP_011534514.1:p.Gln75Lys, XP_047275391.1:p.Gln145Lys, XP_011534512.1:p.Gln305Lys

Select item 145838195318.

rs1458381953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:110476585 (GRCh38)
6:110797788 (GRCh37)
Canonical SPDI:: NC_000006.12:110476584:T:C
Gene:: SLC22A16 (Varview), LOC105377938 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.110476585T>C, NC_000006.11:g.110797788T>C, NM_033125.4:c.-11A>G, NM_033125.3:c.-11A>G, XM_011536209.4:c.-223A>G, XM_011536209.3:c.-223A>G, XM_011536209.2:c.-223A>G, XM_011536209.1:c.-223A>G, XM_011536208.4:c.-39A>G, XM_011536208.3:c.-39A>G, XM_011536208.2:c.-39A>G, XM_011536208.1:c.-39A>G, XM_011536205.3:c.-11A>G, XM_011536205.2:c.-11A>G, XM_011536205.1:c.-11A>G, XM_011536206.3:c.-11A>G, XM_011536206.2:c.-11A>G, XM_011536206.1:c.-11A>G, XM_011536211.3:c.-11A>G, XM_011536211.2:c.-11A>G, XM_011536211.1:c.-11A>G, XM_047419435.1:c.-11A>G, XM_011536210.1:c.-11A>G

Select item 145529527419.

rs1455295274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110442738 (GRCh38)
6:110763941 (GRCh37)
Canonical SPDI:: NC_000006.12:110442737:A:G
Gene:: SLC22A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110442738A>G, NC_000006.11:g.110763941A>G, XM_011536204.4:c.560T>C, XM_011536204.3:c.560T>C, XM_011536204.2:c.560T>C, XM_011536204.1:c.560T>C, NM_033125.4:c.689T>C, NM_033125.3:c.689T>C, XM_011536209.4:c.284T>C, XM_011536209.3:c.284T>C, XM_011536209.2:c.284T>C, XM_011536209.1:c.284T>C, XM_011536207.4:c.335T>C, XM_011536207.3:c.335T>C, XM_011536207.2:c.335T>C, XM_011536207.1:c.335T>C, XM_011536208.4:c.299T>C, XM_011536208.3:c.299T>C, XM_011536208.2:c.299T>C, XM_011536208.1:c.299T>C, XM_011536205.3:c.689T>C, XM_011536205.2:c.689T>C, XM_011536205.1:c.689T>C, XM_011536206.3:c.407T>C, XM_011536206.2:c.407T>C, XM_011536206.1:c.407T>C, XM_011536211.3:c.209T>C, XM_011536211.2:c.209T>C, XM_011536211.1:c.209T>C, XM_011536212.3:c.-2T>C, XM_011536212.2:c.-2T>C, XM_011536212.1:c.-2T>C, XM_047419435.1:c.209T>C, XM_011536210.1:c.689T>C, XP_011534506.1:p.Val187Ala, NP_149116.2:p.Val230Ala, XP_011534511.1:p.Val95Ala, XP_011534509.1:p.Val112Ala, XP_011534510.1:p.Val100Ala, XP_011534507.1:p.Val230Ala, XP_011534508.1:p.Val136Ala, XP_011534513.1:p.Val70Ala, XP_047275391.1:p.Val70Ala, XP_011534512.1:p.Val230Ala

Select item 145521649920.

rs1455216499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:110456779 (GRCh38)
6:110777982 (GRCh37)
Canonical SPDI:: NC_000006.12:110456778:G:A,NC_000006.12:110456778:G:T
Gene:: SLC22A16 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.110456779G>A, NC_000006.12:g.110456779G>T, NC_000006.11:g.110777982G>A, NC_000006.11:g.110777982G>T, XM_011536204.4:c.163C>T, XM_011536204.4:c.163C>A, XM_011536204.3:c.163C>T, XM_011536204.3:c.163C>A, XM_011536204.2:c.163C>T, XM_011536204.2:c.163C>A, XM_011536204.1:c.163C>T, XM_011536204.1:c.163C>A, NM_033125.4:c.292C>T, NM_033125.4:c.292C>A, NM_033125.3:c.292C>T, NM_033125.3:c.292C>A, XM_011536205.3:c.292C>T, XM_011536205.3:c.292C>A, XM_011536205.2:c.292C>T, XM_011536205.2:c.292C>A, XM_011536205.1:c.292C>T, XM_011536205.1:c.292C>A, XM_011536210.1:c.292C>T, XM_011536210.1:c.292C>A, XP_011534506.1:p.Leu55Phe, XP_011534506.1:p.Leu55Ile, NP_149116.2:p.Leu98Phe, NP_149116.2:p.Leu98Ile, XP_011534507.1:p.Leu98Phe, XP_011534507.1:p.Leu98Ile, XP_011534512.1:p.Leu98Phe, XP_011534512.1:p.Leu98Ile

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