SNP Links for Nucleotide (Select 90669190) - SNP

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Links from Nucleotide

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Select item 14872070931.

rs1487207093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:43300008 (GRCh38)
6:43267746 (GRCh37)
Canonical SPDI:: NC_000006.12:43300007:T:A
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43300008T>A, NC_000006.11:g.43267746T>A, XM_011514256.4:c.955T>A, XM_011514256.3:c.955T>A, XM_011514256.2:c.955T>A, XM_011514256.1:c.955T>A, XM_011514257.4:c.946T>A, XM_011514257.3:c.946T>A, XM_011514257.2:c.946T>A, XM_011514257.1:c.946T>A, XM_011514262.4:c.955T>A, XM_011514262.3:c.955T>A, XM_011514262.2:c.955T>A, XM_011514262.1:c.955T>A, XM_017010199.3:c.796T>A, XM_017010199.2:c.796T>A, XM_017010199.1:c.796T>A, NM_006672.3:c.763T>A, XM_017010198.3:c.955T>A, XM_017010198.2:c.955T>A, XM_017010198.1:c.955T>A, XM_024446313.2:c.946T>A, XM_024446313.1:c.946T>A, NM_153320.2:c.769T>A, XM_047418103.1:c.772T>A, XM_047418104.1:c.376T>A, XM_047418102.1:c.955T>A, XM_047418105.1:c.763T>A, XP_011512558.1:p.Trp319Arg, XP_011512559.1:p.Trp316Arg, XP_011512564.1:p.Trp319Arg, XP_016865688.1:p.Trp266Arg, NP_006663.2:p.Trp255Arg, XP_016865687.1:p.Trp319Arg, XP_024302081.1:p.Trp316Arg, NP_696961.2:p.Trp257Arg, XP_047274059.1:p.Trp258Arg, XP_047274060.1:p.Trp126Arg, XP_047274058.1:p.Trp319Arg, XP_047274061.1:p.Trp255Arg

Select item 14845603412.

rs1484560341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43304235 (GRCh38)
6:43271973 (GRCh37)
Canonical SPDI:: NC_000006.12:43304234:A:G
Gene:: SLC22A7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43304235A>G, NC_000006.11:g.43271973A>G, XM_011514256.4:c.1769A>G, XM_011514256.3:c.1769A>G, XM_011514256.2:c.1769A>G, XM_011514256.1:c.1769A>G, XM_011514257.4:c.1760A>G, XM_011514257.3:c.1760A>G, XM_011514257.2:c.1760A>G, XM_011514257.1:c.1760A>G, XM_017010199.3:c.1610A>G, XM_017010199.2:c.1610A>G, XM_017010199.1:c.1610A>G, NM_006672.3:c.1577A>G, XM_017010198.3:c.1769A>G, XM_017010198.2:c.1769A>G, XM_017010198.1:c.1769A>G, NM_153320.2:c.1583A>G, XM_047418103.1:c.1586A>G, XM_047418104.1:c.1190A>G, XP_011512558.1:p.Glu590Gly, XP_011512559.1:p.Glu587Gly, XP_016865688.1:p.Glu537Gly, NP_006663.2:p.Glu526Gly, XP_016865687.1:p.Glu590Gly, NP_696961.2:p.Glu528Gly, XP_047274059.1:p.Glu529Gly, XP_047274060.1:p.Glu397Gly

Select item 14838706853.

rs1483870685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43302691 (GRCh38)
6:43270429 (GRCh37)
Canonical SPDI:: NC_000006.12:43302690:G:A
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43302691G>A, NC_000006.11:g.43270429G>A, XM_011514256.4:c.1499G>A, XM_011514256.3:c.1499G>A, XM_011514256.2:c.1499G>A, XM_011514256.1:c.1499G>A, XM_011514257.4:c.1490G>A, XM_011514257.3:c.1490G>A, XM_011514257.2:c.1490G>A, XM_011514257.1:c.1490G>A, XM_017010199.3:c.1340G>A, XM_017010199.2:c.1340G>A, XM_017010199.1:c.1340G>A, NM_006672.3:c.1307G>A, XM_017010198.3:c.1499G>A, XM_017010198.2:c.1499G>A, XM_017010198.1:c.1499G>A, XM_024446313.2:c.1490G>A, XM_024446313.1:c.1490G>A, NM_153320.2:c.1313G>A, XM_047418103.1:c.1316G>A, XM_047418104.1:c.920G>A, XM_047418102.1:c.1499G>A, XP_011512558.1:p.Gly500Glu, XP_011512559.1:p.Gly497Glu, XP_016865688.1:p.Gly447Glu, NP_006663.2:p.Gly436Glu, XP_016865687.1:p.Gly500Glu, XP_024302081.1:p.Gly497Glu, NP_696961.2:p.Gly438Glu, XP_047274059.1:p.Gly439Glu, XP_047274060.1:p.Gly307Glu, XP_047274058.1:p.Gly500Glu

Select item 14828836994.

rs1482883699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43304164 (GRCh38)
6:43271902 (GRCh37)
Canonical SPDI:: NC_000006.12:43304163:G:A
Gene:: SLC22A7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43304164G>A, NC_000006.11:g.43271902G>A, XM_011514256.4:c.1698G>A, XM_011514256.3:c.1698G>A, XM_011514256.2:c.1698G>A, XM_011514256.1:c.1698G>A, XM_011514257.4:c.1689G>A, XM_011514257.3:c.1689G>A, XM_011514257.2:c.1689G>A, XM_011514257.1:c.1689G>A, XM_017010199.3:c.1539G>A, XM_017010199.2:c.1539G>A, XM_017010199.1:c.1539G>A, NM_006672.3:c.1506G>A, XM_017010198.3:c.1698G>A, XM_017010198.2:c.1698G>A, XM_017010198.1:c.1698G>A, NM_153320.2:c.1512G>A, XM_047418103.1:c.1515G>A, XM_047418104.1:c.1119G>A

Select item 14828074825.

rs1482807482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:43304908 (GRCh38)
6:43272646 (GRCh37)
Canonical SPDI:: NC_000006.12:43304907:C:A,NC_000006.12:43304907:C:T
Gene:: SLC22A7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.43304908C>A, NC_000006.12:g.43304908C>T, NC_000006.11:g.43272646C>A, NC_000006.11:g.43272646C>T, XM_011514256.4:c.*183C>A, XM_011514256.4:c.*183C>T, XM_011514256.3:c.*183C>A, XM_011514256.3:c.*183C>T, XM_011514256.2:c.*183C>A, XM_011514256.2:c.*183C>T, XM_011514256.1:c.*183C>A, XM_011514256.1:c.*183C>T, XM_011514257.4:c.*183C>A, XM_011514257.4:c.*183C>T, XM_011514257.3:c.*183C>A, XM_011514257.3:c.*183C>T, XM_011514257.2:c.*183C>A, XM_011514257.2:c.*183C>T, XM_011514257.1:c.*183C>A, XM_011514257.1:c.*183C>T, XM_017010199.3:c.*183C>A, XM_017010199.3:c.*183C>T, XM_017010199.2:c.*183C>A, XM_017010199.2:c.*183C>T, XM_017010199.1:c.*183C>A, XM_017010199.1:c.*183C>T, NM_006672.3:c.*183C>A, NM_006672.3:c.*183C>T, NM_153320.2:c.*183C>A, NM_153320.2:c.*183C>T, XM_047418103.1:c.*183C>A, XM_047418103.1:c.*183C>T, XM_047418104.1:c.*183C>A, XM_047418104.1:c.*183C>T

Select item 14794600736.

rs1479460073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43304999 (GRCh38)
6:43272737 (GRCh37)
Canonical SPDI:: NC_000006.12:43304998:G:A
Gene:: SLC22A7 (Varview), CRIP3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,500B_downstream_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.43304999G>A, NC_000006.11:g.43272737G>A, XM_011514256.4:c.*274G>A, XM_011514256.3:c.*274G>A, XM_011514256.2:c.*274G>A, XM_011514256.1:c.*274G>A, XM_011514257.4:c.*274G>A, XM_011514257.3:c.*274G>A, XM_011514257.2:c.*274G>A, XM_011514257.1:c.*274G>A, XM_017010199.3:c.*274G>A, XM_017010199.2:c.*274G>A, XM_017010199.1:c.*274G>A, NM_006672.3:c.*274G>A, NM_153320.2:c.*274G>A, XM_047418103.1:c.*274G>A, XM_047418104.1:c.*274G>A

Select item 14791453197.

rs1479145319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:43298657 (GRCh38)
6:43266395 (GRCh37)
Canonical SPDI:: NC_000006.12:43298656:G:C
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000006.12:g.43298657G>C, NC_000006.11:g.43266395G>C, XM_011514256.4:c.299G>C, XM_011514256.3:c.299G>C, XM_011514256.2:c.299G>C, XM_011514256.1:c.299G>C, XM_011514257.4:c.299G>C, XM_011514257.3:c.299G>C, XM_011514257.2:c.299G>C, XM_011514257.1:c.299G>C, XM_011514262.4:c.299G>C, XM_011514262.3:c.299G>C, XM_011514262.2:c.299G>C, XM_011514262.1:c.299G>C, XM_017010199.3:c.299G>C, XM_017010199.2:c.299G>C, XM_017010199.1:c.299G>C, NM_006672.3:c.299G>C, XM_017010198.3:c.299G>C, XM_017010198.2:c.299G>C, XM_017010198.1:c.299G>C, XM_024446313.2:c.299G>C, XM_024446313.1:c.299G>C, NM_153320.2:c.299G>C, XM_047418103.1:c.299G>C, XM_047418104.1:c.-272G>C, XM_047418102.1:c.299G>C, XM_047418105.1:c.299G>C, XP_011512558.1:p.Ser100Thr, XP_011512559.1:p.Ser100Thr, XP_011512564.1:p.Ser100Thr, XP_016865688.1:p.Ser100Thr, NP_006663.2:p.Ser100Thr, XP_016865687.1:p.Ser100Thr, XP_024302081.1:p.Ser100Thr, NP_696961.2:p.Ser100Thr, XP_047274059.1:p.Ser100Thr, XP_047274058.1:p.Ser100Thr, XP_047274061.1:p.Ser100Thr

Select item 14762024218.

rs1476202421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43299939 (GRCh38)
6:43267677 (GRCh37)
Canonical SPDI:: NC_000006.12:43299938:G:A
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43299939G>A, NC_000006.11:g.43267677G>A, XM_011514256.4:c.886G>A, XM_011514256.3:c.886G>A, XM_011514256.2:c.886G>A, XM_011514256.1:c.886G>A, XM_011514257.4:c.877G>A, XM_011514257.3:c.877G>A, XM_011514257.2:c.877G>A, XM_011514257.1:c.877G>A, XM_011514262.4:c.886G>A, XM_011514262.3:c.886G>A, XM_011514262.2:c.886G>A, XM_011514262.1:c.886G>A, XM_017010199.3:c.727G>A, XM_017010199.2:c.727G>A, XM_017010199.1:c.727G>A, NM_006672.3:c.694G>A, XM_017010198.3:c.886G>A, XM_017010198.2:c.886G>A, XM_017010198.1:c.886G>A, XM_024446313.2:c.877G>A, XM_024446313.1:c.877G>A, NM_153320.2:c.700G>A, XM_047418103.1:c.703G>A, XM_047418104.1:c.307G>A, XM_047418102.1:c.886G>A, XM_047418105.1:c.694G>A, XP_011512558.1:p.Val296Ile, XP_011512559.1:p.Val293Ile, XP_011512564.1:p.Val296Ile, XP_016865688.1:p.Val243Ile, NP_006663.2:p.Val232Ile, XP_016865687.1:p.Val296Ile, XP_024302081.1:p.Val293Ile, NP_696961.2:p.Val234Ile, XP_047274059.1:p.Val235Ile, XP_047274060.1:p.Val103Ile, XP_047274058.1:p.Val296Ile, XP_047274061.1:p.Val232Ile

Select item 14760797789.

rs1476079778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43299772 (GRCh38)
6:43267510 (GRCh37)
Canonical SPDI:: NC_000006.12:43299771:A:G
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000006.12:g.43299772A>G, NC_000006.11:g.43267510A>G, XM_011514256.4:c.826A>G, XM_011514256.3:c.826A>G, XM_011514256.2:c.826A>G, XM_011514256.1:c.826A>G, XM_011514257.4:c.826A>G, XM_011514257.3:c.826A>G, XM_011514257.2:c.826A>G, XM_011514257.1:c.826A>G, XM_011514262.4:c.826A>G, XM_011514262.3:c.826A>G, XM_011514262.2:c.826A>G, XM_011514262.1:c.826A>G, NM_006672.3:c.643A>G, XM_017010198.3:c.826A>G, XM_017010198.2:c.826A>G, XM_017010198.1:c.826A>G, XM_024446313.2:c.826A>G, XM_024446313.1:c.826A>G, NM_153320.2:c.649A>G, XM_047418103.1:c.643A>G, XM_047418104.1:c.256A>G, XM_047418102.1:c.826A>G, XM_047418105.1:c.643A>G, XR_007059582.1:n.225T>C, XP_011512558.1:p.Met276Val, XP_011512559.1:p.Met276Val, XP_011512564.1:p.Met276Val, NP_006663.2:p.Met215Val, XP_016865687.1:p.Met276Val, XP_024302081.1:p.Met276Val, NP_696961.2:p.Met217Val, XP_047274059.1:p.Met215Val, XP_047274060.1:p.Met86Val, XP_047274058.1:p.Met276Val, XP_047274061.1:p.Met215Val

Select item 147601570210.

rs1476015702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:43300015 (GRCh38)
6:43267753 (GRCh37)
Canonical SPDI:: NC_000006.12:43300014:G:C
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43300015G>C, NC_000006.11:g.43267753G>C, XM_011514256.4:c.962G>C, XM_011514256.3:c.962G>C, XM_011514256.2:c.962G>C, XM_011514256.1:c.962G>C, XM_011514257.4:c.953G>C, XM_011514257.3:c.953G>C, XM_011514257.2:c.953G>C, XM_011514257.1:c.953G>C, XM_011514262.4:c.962G>C, XM_011514262.3:c.962G>C, XM_011514262.2:c.962G>C, XM_011514262.1:c.962G>C, XM_017010199.3:c.803G>C, XM_017010199.2:c.803G>C, XM_017010199.1:c.803G>C, NM_006672.3:c.770G>C, XM_017010198.3:c.962G>C, XM_017010198.2:c.962G>C, XM_017010198.1:c.962G>C, XM_024446313.2:c.953G>C, XM_024446313.1:c.953G>C, NM_153320.2:c.776G>C, XM_047418103.1:c.779G>C, XM_047418104.1:c.383G>C, XM_047418102.1:c.962G>C, XM_047418105.1:c.770G>C, XP_011512558.1:p.Trp321Ser, XP_011512559.1:p.Trp318Ser, XP_011512564.1:p.Trp321Ser, XP_016865688.1:p.Trp268Ser, NP_006663.2:p.Trp257Ser, XP_016865687.1:p.Trp321Ser, XP_024302081.1:p.Trp318Ser, NP_696961.2:p.Trp259Ser, XP_047274059.1:p.Trp260Ser, XP_047274060.1:p.Trp128Ser, XP_047274058.1:p.Trp321Ser, XP_047274061.1:p.Trp257Ser

Select item 147329068811.

rs1473290688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43304899 (GRCh38)
6:43272637 (GRCh37)
Canonical SPDI:: NC_000006.12:43304898:G:A
Gene:: SLC22A7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43304899G>A, NC_000006.11:g.43272637G>A, XM_011514256.4:c.*174G>A, XM_011514256.3:c.*174G>A, XM_011514256.2:c.*174G>A, XM_011514256.1:c.*174G>A, XM_011514257.4:c.*174G>A, XM_011514257.3:c.*174G>A, XM_011514257.2:c.*174G>A, XM_011514257.1:c.*174G>A, XM_017010199.3:c.*174G>A, XM_017010199.2:c.*174G>A, XM_017010199.1:c.*174G>A, NM_006672.3:c.*174G>A, NM_153320.2:c.*174G>A, XM_047418103.1:c.*174G>A, XM_047418104.1:c.*174G>A

Select item 147105019212.

rs1471050192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43305378 (GRCh38)
6:43273116 (GRCh37)
Canonical SPDI:: NC_000006.12:43305377:C:T
Gene:: SLC22A7 (Varview), CRIP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.43305378C>T, NC_000006.11:g.43273116C>T, XM_011514256.4:c.*653C>T, XM_011514256.3:c.*653C>T, XM_011514256.2:c.*653C>T, XM_011514257.4:c.*653C>T, XM_011514257.3:c.*653C>T, XM_011514257.2:c.*653C>T, XM_017010199.3:c.*653C>T, XM_017010199.2:c.*653C>T, XM_017010199.1:c.*653C>T, NM_006672.3:c.*653C>T, XM_017010198.3:c.*125C>T, XM_017010198.2:c.*125C>T, XM_017010198.1:c.*125C>T, NM_153320.2:c.*653C>T, XM_047418103.1:c.*653C>T, XM_047418104.1:c.*653C>T

Select item 147083317013.

rs1470833170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43305318 (GRCh38)
6:43273056 (GRCh37)
Canonical SPDI:: NC_000006.12:43305317:C:T
Gene:: SLC22A7 (Varview), CRIP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43305318C>T, NC_000006.11:g.43273056C>T, XM_011514256.4:c.*593C>T, XM_011514256.3:c.*593C>T, XM_011514256.2:c.*593C>T, XM_011514257.4:c.*593C>T, XM_011514257.3:c.*593C>T, XM_011514257.2:c.*593C>T, XM_017010199.3:c.*593C>T, XM_017010199.2:c.*593C>T, XM_017010199.1:c.*593C>T, NM_006672.3:c.*593C>T, XM_017010198.3:c.*65C>T, XM_017010198.2:c.*65C>T, XM_017010198.1:c.*65C>T, NM_153320.2:c.*593C>T, XM_047418103.1:c.*593C>T, XM_047418104.1:c.*593C>T

Select item 146835409714.

rs1468354097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43305149 (GRCh38)
6:43272887 (GRCh37)
Canonical SPDI:: NC_000006.12:43305148:T:C
Gene:: SLC22A7 (Varview), CRIP3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43305149T>C, NC_000006.11:g.43272887T>C, XM_011514256.4:c.*424T>C, XM_011514256.3:c.*424T>C, XM_011514256.2:c.*424T>C, XM_011514256.1:c.*424T>C, XM_011514257.4:c.*424T>C, XM_011514257.3:c.*424T>C, XM_011514257.2:c.*424T>C, XM_011514257.1:c.*424T>C, XM_017010199.3:c.*424T>C, XM_017010199.2:c.*424T>C, XM_017010199.1:c.*424T>C, NM_006672.3:c.*424T>C, NM_153320.2:c.*424T>C, XM_047418103.1:c.*424T>C, XM_047418104.1:c.*424T>C

Select item 146827166215.

rs1468271662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43302385 (GRCh38)
6:43270123 (GRCh37)
Canonical SPDI:: NC_000006.12:43302384:C:T
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43302385C>T, NC_000006.11:g.43270123C>T, XM_011514256.4:c.1433C>T, XM_011514256.3:c.1433C>T, XM_011514256.2:c.1433C>T, XM_011514256.1:c.1433C>T, XM_011514257.4:c.1424C>T, XM_011514257.3:c.1424C>T, XM_011514257.2:c.1424C>T, XM_011514257.1:c.1424C>T, XM_017010199.3:c.1274C>T, XM_017010199.2:c.1274C>T, XM_017010199.1:c.1274C>T, NM_006672.3:c.1241C>T, XM_017010198.3:c.1433C>T, XM_017010198.2:c.1433C>T, XM_017010198.1:c.1433C>T, XM_024446313.2:c.1424C>T, XM_024446313.1:c.1424C>T, NM_153320.2:c.1247C>T, XM_047418103.1:c.1250C>T, XM_047418104.1:c.854C>T, XM_047418102.1:c.1433C>T, XP_011512558.1:p.Ala478Val, XP_011512559.1:p.Ala475Val, XP_016865688.1:p.Ala425Val, NP_006663.2:p.Ala414Val, XP_016865687.1:p.Ala478Val, XP_024302081.1:p.Ala475Val, NP_696961.2:p.Ala416Val, XP_047274059.1:p.Ala417Val, XP_047274060.1:p.Ala285Val, XP_047274058.1:p.Ala478Val

Select item 146678607816.

rs1466786078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:43304224 (GRCh38)
6:43271962 (GRCh37)
Canonical SPDI:: NC_000006.12:43304223:C:G,NC_000006.12:43304223:C:T
Gene:: SLC22A7 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.43304224C>G, NC_000006.12:g.43304224C>T, NC_000006.11:g.43271962C>G, NC_000006.11:g.43271962C>T, XM_011514256.4:c.1758C>G, XM_011514256.4:c.1758C>T, XM_011514256.3:c.1758C>G, XM_011514256.3:c.1758C>T, XM_011514256.2:c.1758C>G, XM_011514256.2:c.1758C>T, XM_011514256.1:c.1758C>G, XM_011514256.1:c.1758C>T, XM_011514257.4:c.1749C>G, XM_011514257.4:c.1749C>T, XM_011514257.3:c.1749C>G, XM_011514257.3:c.1749C>T, XM_011514257.2:c.1749C>G, XM_011514257.2:c.1749C>T, XM_011514257.1:c.1749C>G, XM_011514257.1:c.1749C>T, XM_017010199.3:c.1599C>G, XM_017010199.3:c.1599C>T, XM_017010199.2:c.1599C>G, XM_017010199.2:c.1599C>T, XM_017010199.1:c.1599C>G, XM_017010199.1:c.1599C>T, NM_006672.3:c.1566C>G, NM_006672.3:c.1566C>T, XM_017010198.3:c.1758C>G, XM_017010198.3:c.1758C>T, XM_017010198.2:c.1758C>G, XM_017010198.2:c.1758C>T, XM_017010198.1:c.1758C>G, XM_017010198.1:c.1758C>T, NM_153320.2:c.1572C>G, NM_153320.2:c.1572C>T, XM_047418103.1:c.1575C>G, XM_047418103.1:c.1575C>T, XM_047418104.1:c.1179C>G, XM_047418104.1:c.1179C>T, XP_011512558.1:p.Ile586Met, XP_011512559.1:p.Ile583Met, XP_016865688.1:p.Ile533Met, NP_006663.2:p.Ile522Met, XP_016865687.1:p.Ile586Met, NP_696961.2:p.Ile524Met, XP_047274059.1:p.Ile525Met, XP_047274060.1:p.Ile393Met

Select item 146186735317.

rs1461867353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43301167 (GRCh38)
6:43268905 (GRCh37)
Canonical SPDI:: NC_000006.12:43301166:C:T
Gene:: SLC22A7 (Varview), LOC124901319 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43301167C>T, NC_000006.11:g.43268905C>T, XM_011514256.4:c.1046C>T, XM_011514256.3:c.1046C>T, XM_011514256.2:c.1046C>T, XM_011514256.1:c.1046C>T, XM_011514257.4:c.1037C>T, XM_011514257.3:c.1037C>T, XM_011514257.2:c.1037C>T, XM_011514257.1:c.1037C>T, XM_011514262.4:c.1046C>T, XM_011514262.3:c.1046C>T, XM_011514262.2:c.1046C>T, XM_011514262.1:c.1046C>T, XM_017010199.3:c.887C>T, XM_017010199.2:c.887C>T, XM_017010199.1:c.887C>T, NM_006672.3:c.854C>T, XM_017010198.3:c.1046C>T, XM_017010198.2:c.1046C>T, XM_017010198.1:c.1046C>T, XM_024446313.2:c.1037C>T, XM_024446313.1:c.1037C>T, NM_153320.2:c.860C>T, XM_047418103.1:c.863C>T, XM_047418104.1:c.467C>T, XM_047418102.1:c.1046C>T, XM_047418105.1:c.854C>T, XP_011512558.1:p.Thr349Ile, XP_011512559.1:p.Thr346Ile, XP_011512564.1:p.Thr349Ile, XP_016865688.1:p.Thr296Ile, NP_006663.2:p.Thr285Ile, XP_016865687.1:p.Thr349Ile, XP_024302081.1:p.Thr346Ile, NP_696961.2:p.Thr287Ile, XP_047274059.1:p.Thr288Ile, XP_047274060.1:p.Thr156Ile, XP_047274058.1:p.Thr349Ile, XP_047274061.1:p.Thr285Ile

Select item 146100951318.

rs1461009513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:43304782 (GRCh38)
6:43272520 (GRCh37)
Canonical SPDI:: NC_000006.12:43304781:A:T
Gene:: SLC22A7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43304782A>T, NC_000006.11:g.43272520A>T, XM_011514256.4:c.*57A>T, XM_011514256.3:c.*57A>T, XM_011514256.2:c.*57A>T, XM_011514256.1:c.*57A>T, XM_011514257.4:c.*57A>T, XM_011514257.3:c.*57A>T, XM_011514257.2:c.*57A>T, XM_011514257.1:c.*57A>T, XM_017010199.3:c.*57A>T, XM_017010199.2:c.*57A>T, XM_017010199.1:c.*57A>T, NM_006672.3:c.*57A>T, NM_153320.2:c.*57A>T, XM_047418103.1:c.*57A>T, XM_047418104.1:c.*57A>T

Select item 146037883519.

rs1460378835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:43304122 (GRCh38)
6:43271860 (GRCh37)
Canonical SPDI:: NC_000006.12:43304121:G:C
Gene:: SLC22A7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43304122G>C, NC_000006.11:g.43271860G>C, XM_011514256.4:c.1656G>C, XM_011514256.3:c.1656G>C, XM_011514256.2:c.1656G>C, XM_011514256.1:c.1656G>C, XM_011514257.4:c.1647G>C, XM_011514257.3:c.1647G>C, XM_011514257.2:c.1647G>C, XM_011514257.1:c.1647G>C, XM_017010199.3:c.1497G>C, XM_017010199.2:c.1497G>C, XM_017010199.1:c.1497G>C, NM_006672.3:c.1464G>C, XM_017010198.3:c.1656G>C, XM_017010198.2:c.1656G>C, XM_017010198.1:c.1656G>C, NM_153320.2:c.1470G>C, XM_047418103.1:c.1473G>C, XM_047418104.1:c.1077G>C, XP_011512558.1:p.Trp552Cys, XP_011512559.1:p.Trp549Cys, XP_016865688.1:p.Trp499Cys, NP_006663.2:p.Trp488Cys, XP_016865687.1:p.Trp552Cys, NP_696961.2:p.Trp490Cys, XP_047274059.1:p.Trp491Cys, XP_047274060.1:p.Trp359Cys

Select item 146019713720.

rs1460197137 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:43304076 (GRCh38)
6:43271815 (GRCh37)
Canonical SPDI:: NC_000006.12:43304076:GGGGGG:GGGGGGG
Gene:: SLC22A7 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
HGVS:: NC_000006.12:g.43304082dup, NC_000006.11:g.43271820dup, XM_011514256.4:c.1616dup, XM_011514256.3:c.1616dup, XM_011514256.2:c.1616dup, XM_011514256.1:c.1616dup, XM_011514257.4:c.1607dup, XM_011514257.3:c.1607dup, XM_011514257.2:c.1607dup, XM_011514257.1:c.1607dup, XM_017010199.3:c.1457dup, XM_017010199.2:c.1457dup, XM_017010199.1:c.1457dup, NM_006672.3:c.1424dup, XM_017010198.3:c.1616dup, XM_017010198.2:c.1616dup, XM_017010198.1:c.1616dup, NM_153320.2:c.1430dup, XM_047418103.1:c.1433dup, XM_047418104.1:c.1037dup, XP_011512558.1:p.Ser540fs, XP_011512559.1:p.Ser537fs, XP_016865688.1:p.Ser487fs, NP_006663.2:p.Ser476fs, XP_016865687.1:p.Ser540fs, NP_696961.2:p.Ser478fs, XP_047274059.1:p.Ser479fs, XP_047274060.1:p.Ser347fs

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