SNP Links for Protein (Select 767940764) - SNP

Links from Protein

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Select item 14586459941.

rs1458645994 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGGCACCAAG>- [Show Flanks]
Chromosome:: 6:31588614 (GRCh38)
6:31556391 (GRCh37)
Canonical SPDI:: NC_000006.12:31588609:CAAGAGAGGCACCAAG:CAAG
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31588614_31588625del, NC_000006.11:g.31556391_31556402del, NG_021176.1:g.9365_9376del, NG_030378.1:g.7436_7447del, NM_205837.3:c.*29_*40del, NM_205837.2:c.*29_*40del, NM_205839.3:c.232_243del, NM_205839.2:c.232_243del, NM_007161.3:c.253_264del, NM_205838.3:c.139_150del, NM_205838.2:c.139_150del, NM_205840.2:c.*29_*40del, NR_029461.2:n.255_266del, NR_029461.1:n.353_364del, NR_029462.2:n.210_221del, NR_029462.1:n.308_319del, NM_001166538.1:c.160_171del, NT_113891.3:g.3065897_3065908del, NT_113891.2:g.3066003_3066014del, NT_167245.2:g.2836351_2836362del, NT_167245.1:g.2841936_2841947del, NT_167244.2:g.2921193_2921204del, NT_167244.1:g.2871109_2871120del, NT_167249.2:g.2887895_2887906del, NT_167249.1:g.2887193_2887204del, NT_167247.2:g.2930507_2930518del, NT_167247.1:g.2936092_2936103del, NT_167246.2:g.2893655_2893666del, NT_167246.1:g.2899275_2899286del, NT_167248.2:g.2844437_2844448del, NT_167248.1:g.2850033_2850044del, XM_006715206.4:c.253_264del, XM_006715206.3:c.253_264del, XM_006715206.2:c.253_264del, XM_006715206.1:c.253_264del, XM_006715210.4:c.*29_*40del, XM_006715210.3:c.*29_*40del, XM_006715210.2:c.*29_*40del, XM_006715210.1:c.*29_*40del, XM_006715209.4:c.160_171del, XM_006715209.3:c.160_171del, XM_006715209.2:c.160_171del, XM_006715209.1:c.160_171del, XM_011514914.3:c.253_264del, XM_011514914.2:c.253_264del, XM_011514914.1:c.253_264del, XM_047419357.1:c.232_243del, NP_995311.2:p.Arg78_Lys81del, NP_009092.3:p.Arg85_Lys88del, NP_995310.2:p.Arg47_Lys50del, NP_001160010.1:p.Arg54_Lys57del, XP_006715269.1:p.Arg85_Lys88del, XP_006715272.1:p.Arg54_Lys57del, XP_011513216.1:p.Arg85_Lys88del, XP_047275313.1:p.Arg78_Lys81del

Select item 14518078842.

rs1451807884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31588593 (GRCh38)
6:31556370 (GRCh37)
Canonical SPDI:: NC_000006.12:31588592:G:A
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31588593G>A, NC_000006.11:g.31556370G>A, NG_021176.1:g.9393C>T, NG_030378.1:g.7415G>A, NM_205837.3:c.*8G>A, NM_205837.2:c.*8G>A, NM_205839.3:c.211G>A, NM_205839.2:c.211G>A, NM_007161.3:c.232G>A, NM_205838.3:c.118G>A, NM_205838.2:c.118G>A, NM_205840.2:c.*8G>A, NR_029461.2:n.234G>A, NR_029461.1:n.332G>A, NR_029462.2:n.189G>A, NR_029462.1:n.287G>A, NM_001166538.1:c.139G>A, NT_113891.3:g.3065876G>A, NT_113891.2:g.3065982G>A, NT_167245.2:g.2836330G>A, NT_167245.1:g.2841915G>A, NT_167244.2:g.2921172G>A, NT_167244.1:g.2871088G>A, NT_167249.2:g.2887874G>A, NT_167249.1:g.2887172G>A, NT_167247.2:g.2930486G>A, NT_167247.1:g.2936071G>A, NT_167246.2:g.2893634G>A, NT_167246.1:g.2899254G>A, NT_167248.2:g.2844416G>A, NT_167248.1:g.2850012G>A, XM_006715206.4:c.232G>A, XM_006715206.3:c.232G>A, XM_006715206.2:c.232G>A, XM_006715206.1:c.232G>A, XM_006715210.4:c.*8G>A, XM_006715210.3:c.*8G>A, XM_006715210.2:c.*8G>A, XM_006715210.1:c.*8G>A, XM_006715209.4:c.139G>A, XM_006715209.3:c.139G>A, XM_006715209.2:c.139G>A, XM_006715209.1:c.139G>A, XM_011514914.3:c.232G>A, XM_011514914.2:c.232G>A, XM_011514914.1:c.232G>A, XM_047419357.1:c.211G>A, NP_995311.2:p.Asp71Asn, NP_009092.3:p.Asp78Asn, NP_995310.2:p.Asp40Asn, NP_001160010.1:p.Asp47Asn, XP_006715269.1:p.Asp78Asn, XP_006715272.1:p.Asp47Asn, XP_011513216.1:p.Asp78Asn, XP_047275313.1:p.Asp71Asn

Select item 14448360853.

rs1444836085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31587721 (GRCh38)
6:31555498 (GRCh37)
Canonical SPDI:: NC_000006.12:31587720:C:G
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31587721C>G, NC_000006.11:g.31555498C>G, NG_021176.1:g.10265G>C, NG_030378.1:g.6543C>G, NM_205837.3:c.100C>G, NM_205837.2:c.100C>G, NM_205839.3:c.100C>G, NM_205839.2:c.100C>G, NM_007161.3:c.100C>G, NM_205840.2:c.100C>G, NT_113891.3:g.3065008C>G, NT_113891.2:g.3065114C>G, NT_167245.2:g.2835456C>G, NT_167245.1:g.2841041C>G, NT_167244.2:g.2920300C>G, NT_167244.1:g.2870216C>G, NT_167249.2:g.2887002C>G, NT_167249.1:g.2886300C>G, NT_167247.2:g.2929616C>G, NT_167247.1:g.2935201C>G, NT_167246.2:g.2892762C>G, NT_167246.1:g.2898382C>G, NT_167248.2:g.2843542C>G, NT_167248.1:g.2849138C>G, XM_006715206.4:c.100C>G, XM_006715206.3:c.100C>G, XM_006715206.2:c.100C>G, XM_006715206.1:c.100C>G, XM_006715210.4:c.100C>G, XM_006715210.3:c.100C>G, XM_006715210.2:c.100C>G, XM_006715210.1:c.100C>G, XM_011514914.3:c.100C>G, XM_011514914.2:c.100C>G, XM_011514914.1:c.100C>G, XM_047419357.1:c.100C>G, NP_995309.2:p.Leu34Val, NP_995311.2:p.Leu34Val, NP_009092.3:p.Leu34Val, NP_995312.2:p.Leu34Val, XP_006715269.1:p.Leu34Val, XP_006715273.1:p.Leu34Val, XP_011513216.1:p.Leu34Val, XP_047275313.1:p.Leu34Val

Select item 14426994794.

rs1442699479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31587687 (GRCh38)
6:31555464 (GRCh37)
Canonical SPDI:: NC_000006.12:31587686:G:C
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31587687G>C, NC_000006.11:g.31555464G>C, NG_021176.1:g.10299C>G, NG_030378.1:g.6509G>C, NM_205837.3:c.66G>C, NM_205837.2:c.66G>C, NM_205839.3:c.66G>C, NM_205839.2:c.66G>C, NM_007161.3:c.66G>C, NM_205840.2:c.66G>C, NT_113891.3:g.3064974G>C, NT_113891.2:g.3065080G>C, NT_167245.2:g.2835422G>C, NT_167245.1:g.2841007G>C, NT_167244.2:g.2920266G>C, NT_167244.1:g.2870182G>C, NT_167249.2:g.2886968G>C, NT_167249.1:g.2886266G>C, NT_167247.2:g.2929582G>C, NT_167247.1:g.2935167G>C, NT_167246.2:g.2892728G>C, NT_167246.1:g.2898348G>C, NT_167248.2:g.2843508G>C, NT_167248.1:g.2849104G>C, XM_006715206.4:c.66G>C, XM_006715206.3:c.66G>C, XM_006715206.2:c.66G>C, XM_006715206.1:c.66G>C, XM_006715210.4:c.66G>C, XM_006715210.3:c.66G>C, XM_006715210.2:c.66G>C, XM_006715210.1:c.66G>C, XM_011514914.3:c.66G>C, XM_011514914.2:c.66G>C, XM_011514914.1:c.66G>C, XM_047419357.1:c.66G>C

Select item 13848318805.

rs1384831880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31588655 (GRCh38)
6:31556432 (GRCh37)
Canonical SPDI:: NC_000006.12:31588654:T:C
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31588655T>C, NC_000006.11:g.31556432T>C, NG_021176.1:g.9331A>G, NG_030378.1:g.7477T>C, NM_205837.3:c.*70T>C, NM_205837.2:c.*70T>C, NM_205839.3:c.273T>C, NM_205839.2:c.273T>C, NM_007161.3:c.294T>C, NM_205838.3:c.180T>C, NM_205838.2:c.180T>C, NM_205840.2:c.*70T>C, NR_029461.2:n.296T>C, NR_029461.1:n.394T>C, NR_029462.2:n.251T>C, NR_029462.1:n.349T>C, NM_001166538.1:c.201T>C, NT_113891.3:g.3065938T>C, NT_113891.2:g.3066044T>C, NT_167245.2:g.2836392T>C, NT_167245.1:g.2841977T>C, NT_167244.2:g.2921234T>C, NT_167244.1:g.2871150T>C, NT_167249.2:g.2887936T>C, NT_167249.1:g.2887234T>C, NT_167247.2:g.2930548T>C, NT_167247.1:g.2936133T>C, NT_167246.2:g.2893696T>C, NT_167246.1:g.2899316T>C, NT_167248.2:g.2844478T>C, NT_167248.1:g.2850074T>C, XM_006715206.4:c.294T>C, XM_006715206.3:c.294T>C, XM_006715206.2:c.294T>C, XM_006715206.1:c.294T>C, XM_006715210.4:c.*70T>C, XM_006715210.3:c.*70T>C, XM_006715210.2:c.*70T>C, XM_006715210.1:c.*70T>C, XM_006715209.4:c.201T>C, XM_006715209.3:c.201T>C, XM_006715209.2:c.201T>C, XM_006715209.1:c.201T>C, XM_011514914.3:c.294T>C, XM_011514914.2:c.294T>C, XM_011514914.1:c.294T>C, XM_047419357.1:c.273T>C

Select item 13845454746.

rs1384545474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31587686 (GRCh38)
6:31555463 (GRCh37)
Canonical SPDI:: NC_000006.12:31587685:T:G
Gene:: LST1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31587686T>G, NC_000006.11:g.31555463T>G, NG_021176.1:g.10300A>C, NG_030378.1:g.6508T>G, NM_205837.3:c.65T>G, NM_205837.2:c.65T>G, NM_205839.3:c.65T>G, NM_205839.2:c.65T>G, NM_007161.3:c.65T>G, NM_205840.2:c.65T>G, NT_113891.3:g.3064973T>G, NT_113891.2:g.3065079T>G, NT_167245.2:g.2835421T>G, NT_167245.1:g.2841006T>G, NT_167244.2:g.2920265T>G, NT_167244.1:g.2870181T>G, NT_167249.2:g.2886967T>G, NT_167249.1:g.2886265T>G, NT_167247.2:g.2929581T>G, NT_167247.1:g.2935166T>G, NT_167246.2:g.2892727T>G, NT_167246.1:g.2898347T>G, NT_167248.2:g.2843507T>G, NT_167248.1:g.2849103T>G, XM_006715206.4:c.65T>G, XM_006715206.3:c.65T>G, XM_006715206.2:c.65T>G, XM_006715206.1:c.65T>G, XM_006715210.4:c.65T>G, XM_006715210.3:c.65T>G, XM_006715210.2:c.65T>G, XM_006715210.1:c.65T>G, XM_011514914.3:c.65T>G, XM_011514914.2:c.65T>G, XM_011514914.1:c.65T>G, XM_047419357.1:c.65T>G, NP_995309.2:p.Leu22Arg, NP_995311.2:p.Leu22Arg, NP_009092.3:p.Leu22Arg, NP_995312.2:p.Leu22Arg, XP_006715269.1:p.Leu22Arg, XP_006715273.1:p.Leu22Arg, XP_011513216.1:p.Leu22Arg, XP_047275313.1:p.Leu22Arg

Select item 13834400067.

rs1383440006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31588565 (GRCh38)
6:31556342 (GRCh37)
Canonical SPDI:: NC_000006.12:31588564:G:A,NC_000006.12:31588564:G:T
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31588565G>A, NC_000006.12:g.31588565G>T, NC_000006.11:g.31556342G>A, NC_000006.11:g.31556342G>T, NG_021176.1:g.9421C>T, NG_021176.1:g.9421C>A, NG_030378.1:g.7387G>A, NG_030378.1:g.7387G>T, NM_205837.3:c.181G>A, NM_205837.3:c.181G>T, NM_205837.2:c.181G>A, NM_205837.2:c.181G>T, NM_205839.3:c.183G>A, NM_205839.3:c.183G>T, NM_205839.2:c.183G>A, NM_205839.2:c.183G>T, NM_007161.3:c.204G>A, NM_007161.3:c.204G>T, NM_205838.3:c.90G>A, NM_205838.3:c.90G>T, NM_205838.2:c.90G>A, NM_205838.2:c.90G>T, NM_205840.2:c.160G>A, NM_205840.2:c.160G>T, NR_029461.2:n.206G>A, NR_029461.2:n.206G>T, NR_029461.1:n.304G>A, NR_029461.1:n.304G>T, NR_029462.2:n.161G>A, NR_029462.2:n.161G>T, NR_029462.1:n.259G>A, NR_029462.1:n.259G>T, NM_001166538.1:c.111G>A, NM_001166538.1:c.111G>T, NT_113891.3:g.3065848G>A, NT_113891.3:g.3065848G>T, NT_113891.2:g.3065954G>A, NT_113891.2:g.3065954G>T, NT_167245.2:g.2836302G>A, NT_167245.2:g.2836302G>T, NT_167245.1:g.2841887G>A, NT_167245.1:g.2841887G>T, NT_167244.2:g.2921144G>A, NT_167244.2:g.2921144G>T, NT_167244.1:g.2871060G>A, NT_167244.1:g.2871060G>T, NT_167249.2:g.2887846G>A, NT_167249.2:g.2887846G>T, NT_167249.1:g.2887144G>A, NT_167249.1:g.2887144G>T, NT_167247.2:g.2930458G>A, NT_167247.2:g.2930458G>T, NT_167247.1:g.2936043G>A, NT_167247.1:g.2936043G>T, NT_167246.2:g.2893606G>A, NT_167246.2:g.2893606G>T, NT_167246.1:g.2899226G>A, NT_167246.1:g.2899226G>T, NT_167248.2:g.2844388G>A, NT_167248.2:g.2844388G>T, NT_167248.1:g.2849984G>A, NT_167248.1:g.2849984G>T, XM_006715206.4:c.204G>A, XM_006715206.4:c.204G>T, XM_006715206.3:c.204G>A, XM_006715206.3:c.204G>T, XM_006715206.2:c.204G>A, XM_006715206.2:c.204G>T, XM_006715206.1:c.204G>A, XM_006715206.1:c.204G>T, XM_006715210.4:c.160G>A, XM_006715210.4:c.160G>T, XM_006715210.3:c.160G>A, XM_006715210.3:c.160G>T, XM_006715210.2:c.160G>A, XM_006715210.2:c.160G>T, XM_006715210.1:c.160G>A, XM_006715210.1:c.160G>T, XM_006715209.4:c.111G>A, XM_006715209.4:c.111G>T, XM_006715209.3:c.111G>A, XM_006715209.3:c.111G>T, XM_006715209.2:c.111G>A, XM_006715209.2:c.111G>T, XM_006715209.1:c.111G>A, XM_006715209.1:c.111G>T, XM_011514914.3:c.204G>A, XM_011514914.3:c.204G>T, XM_011514914.2:c.204G>A, XM_011514914.2:c.204G>T, XM_011514914.1:c.204G>A, XM_011514914.1:c.204G>T, XM_047419357.1:c.183G>A, XM_047419357.1:c.183G>T, NP_995309.2:p.Ala61Thr, NP_995309.2:p.Ala61Ser, NP_995311.2:p.Arg61Ser, NP_009092.3:p.Arg68Ser, NP_995310.2:p.Arg30Ser, NP_995312.2:p.Ala54Thr, NP_995312.2:p.Ala54Ser, NP_001160010.1:p.Arg37Ser, XP_006715269.1:p.Arg68Ser, XP_006715273.1:p.Ala54Thr, XP_006715273.1:p.Ala54Ser, XP_006715272.1:p.Arg37Ser, XP_011513216.1:p.Arg68Ser, XP_047275313.1:p.Arg61Ser

Select item 13807632768.

rs1380763276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31587689 (GRCh38)
6:31555466 (GRCh37)
Canonical SPDI:: NC_000006.12:31587688:C:T
Gene:: LST1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31587689C>T, NC_000006.11:g.31555466C>T, NG_021176.1:g.10297G>A, NG_030378.1:g.6511C>T, NM_205837.3:c.68C>T, NM_205837.2:c.68C>T, NM_205839.3:c.68C>T, NM_205839.2:c.68C>T, NM_007161.3:c.68C>T, NM_205840.2:c.68C>T, NT_113891.3:g.3064976C>T, NT_113891.2:g.3065082C>T, NT_167245.2:g.2835424C>T, NT_167245.1:g.2841009C>T, NT_167244.2:g.2920268C>T, NT_167244.1:g.2870184C>T, NT_167249.2:g.2886970C>T, NT_167249.1:g.2886268C>T, NT_167247.2:g.2929584C>T, NT_167247.1:g.2935169C>T, NT_167246.2:g.2892730C>T, NT_167246.1:g.2898350C>T, NT_167248.2:g.2843510C>T, NT_167248.1:g.2849106C>T, XM_006715206.4:c.68C>T, XM_006715206.3:c.68C>T, XM_006715206.2:c.68C>T, XM_006715206.1:c.68C>T, XM_006715210.4:c.68C>T, XM_006715210.3:c.68C>T, XM_006715210.2:c.68C>T, XM_006715210.1:c.68C>T, XM_011514914.3:c.68C>T, XM_011514914.2:c.68C>T, XM_011514914.1:c.68C>T, XM_047419357.1:c.68C>T, NP_995309.2:p.Ala23Val, NP_995311.2:p.Ala23Val, NP_009092.3:p.Ala23Val, NP_995312.2:p.Ala23Val, XP_006715269.1:p.Ala23Val, XP_006715273.1:p.Ala23Val, XP_011513216.1:p.Ala23Val, XP_047275313.1:p.Ala23Val

Select item 13658841769.

rs1365884176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31587657 (GRCh38)
6:31555434 (GRCh37)
Canonical SPDI:: NC_000006.12:31587656:G:A
Gene:: LST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000006.12:g.31587657G>A, NC_000006.11:g.31555434G>A, NG_021176.1:g.10329C>T, NG_030378.1:g.6479G>A, NM_205837.3:c.36G>A, NM_205837.2:c.36G>A, NM_205839.3:c.36G>A, NM_205839.2:c.36G>A, NM_007161.3:c.36G>A, NM_205840.2:c.36G>A, NT_113891.3:g.3064944G>A, NT_113891.2:g.3065050G>A, NT_167245.2:g.2835392G>A, NT_167245.1:g.2840977G>A, NT_167244.2:g.2920236G>A, NT_167244.1:g.2870152G>A, NT_167249.2:g.2886938G>A, NT_167249.1:g.2886236G>A, NT_167247.2:g.2929552G>A, NT_167247.1:g.2935137G>A, NT_167246.2:g.2892698G>A, NT_167246.1:g.2898318G>A, NT_167248.2:g.2843478G>A, NT_167248.1:g.2849074G>A, XM_006715206.4:c.36G>A, XM_006715206.3:c.36G>A, XM_006715206.2:c.36G>A, XM_006715206.1:c.36G>A, XM_006715210.4:c.36G>A, XM_006715210.3:c.36G>A, XM_006715210.2:c.36G>A, XM_006715210.1:c.36G>A, XM_011514914.3:c.36G>A, XM_011514914.2:c.36G>A, XM_011514914.1:c.36G>A, XM_047419357.1:c.36G>A

Select item 136402339810.

rs1364023398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31588500 (GRCh38)
6:31556277 (GRCh37)
Canonical SPDI:: NC_000006.12:31588499:C:T
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31588500C>T, NC_000006.11:g.31556277C>T, NG_021176.1:g.9486G>A, NG_030378.1:g.7322C>T, NM_205837.3:c.116C>T, NM_205837.2:c.116C>T, NM_007161.3:c.139C>T, NM_001166538.1:c.46C>T, NT_113891.3:g.3065783C>T, NT_113891.2:g.3065889C>T, NT_167245.2:g.2836237C>T, NT_167245.1:g.2841822C>T, NT_167244.2:g.2921079C>T, NT_167244.1:g.2870995C>T, NT_167249.2:g.2887781C>T, NT_167249.1:g.2887079C>T, NT_167247.2:g.2930393C>T, NT_167247.1:g.2935978C>T, NT_167246.2:g.2893541C>T, NT_167246.1:g.2899161C>T, NT_167248.2:g.2844323C>T, NT_167248.1:g.2849919C>T, XM_006715206.4:c.139C>T, XM_006715206.3:c.139C>T, XM_006715206.2:c.139C>T, XM_006715206.1:c.139C>T, XM_006715209.4:c.46C>T, XM_006715209.3:c.46C>T, XM_006715209.2:c.46C>T, XM_006715209.1:c.46C>T, XM_011514914.3:c.139C>T, XM_011514914.2:c.139C>T, XM_011514914.1:c.139C>T, NP_995309.2:p.Pro39Leu, NP_009092.3:p.Leu47Phe, NP_001160010.1:p.Leu16Phe, XP_006715269.1:p.Leu47Phe, XP_006715272.1:p.Leu16Phe, XP_011513216.1:p.Leu47Phe

Select item 135587511311.

rs1355875113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31587714 (GRCh38)
6:31555491 (GRCh37)
Canonical SPDI:: NC_000006.12:31587713:G:C
Gene:: LST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31587714G>C, NC_000006.11:g.31555491G>C, NG_021176.1:g.10272C>G, NG_030378.1:g.6536G>C, NM_205837.3:c.93G>C, NM_205837.2:c.93G>C, NM_205839.3:c.93G>C, NM_205839.2:c.93G>C, NM_007161.3:c.93G>C, NM_205840.2:c.93G>C, NT_113891.3:g.3065001G>C, NT_113891.2:g.3065107G>C, NT_167245.2:g.2835449G>C, NT_167245.1:g.2841034G>C, NT_167244.2:g.2920293G>C, NT_167244.1:g.2870209G>C, NT_167249.2:g.2886995G>C, NT_167249.1:g.2886293G>C, NT_167247.2:g.2929609G>C, NT_167247.1:g.2935194G>C, NT_167246.2:g.2892755G>C, NT_167246.1:g.2898375G>C, NT_167248.2:g.2843535G>C, NT_167248.1:g.2849131G>C, XM_006715206.4:c.93G>C, XM_006715206.3:c.93G>C, XM_006715206.2:c.93G>C, XM_006715206.1:c.93G>C, XM_006715210.4:c.93G>C, XM_006715210.3:c.93G>C, XM_006715210.2:c.93G>C, XM_006715210.1:c.93G>C, XM_011514914.3:c.93G>C, XM_011514914.2:c.93G>C, XM_011514914.1:c.93G>C, XM_047419357.1:c.93G>C

Select item 133757082312.

rs1337570823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31587315 (GRCh38)
6:31555092 (GRCh37)
Canonical SPDI:: NC_000006.12:31587314:G:T
Gene:: LST1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31587315G>T, NC_000006.11:g.31555092G>T, NG_021176.1:g.10671C>A, NG_030378.1:g.6137G>T, NM_205837.3:c.16G>T, NM_205837.2:c.16G>T, NM_205839.3:c.16G>T, NM_205839.2:c.16G>T, NM_007161.3:c.16G>T, NM_205838.3:c.16G>T, NM_205838.2:c.16G>T, NM_205840.2:c.16G>T, NR_029461.2:n.155G>T, NR_029461.1:n.253G>T, NR_029462.2:n.155G>T, NR_029462.1:n.253G>T, NM_001166538.1:c.16G>T, NT_113891.3:g.3064602G>T, NT_113891.2:g.3064708G>T, NT_167245.2:g.2835050G>T, NT_167245.1:g.2840635G>T, NT_167244.2:g.2919894G>T, NT_167244.1:g.2869810G>T, NT_167249.2:g.2886596G>T, NT_167249.1:g.2885894G>T, NT_167247.2:g.2929210G>T, NT_167247.1:g.2934795G>T, NT_167246.2:g.2892356G>T, NT_167246.1:g.2897976G>T, NT_167248.2:g.2843136G>T, NT_167248.1:g.2848732G>T, XM_006715206.4:c.16G>T, XM_006715206.3:c.16G>T, XM_006715206.2:c.16G>T, XM_006715206.1:c.16G>T, XM_006715210.4:c.16G>T, XM_006715210.3:c.16G>T, XM_006715210.2:c.16G>T, XM_006715210.1:c.16G>T, XM_006715209.4:c.16G>T, XM_006715209.3:c.16G>T, XM_006715209.2:c.16G>T, XM_006715209.1:c.16G>T, XM_011514914.3:c.16G>T, XM_011514914.2:c.16G>T, XM_011514914.1:c.16G>T, XM_047419357.1:c.16G>T, NP_995309.2:p.Asp6Tyr, NP_995311.2:p.Asp6Tyr, NP_009092.3:p.Asp6Tyr, NP_995310.2:p.Asp6Tyr, NP_995312.2:p.Asp6Tyr, NP_001160010.1:p.Asp6Tyr, XP_006715269.1:p.Asp6Tyr, XP_006715273.1:p.Asp6Tyr, XP_006715272.1:p.Asp6Tyr, XP_011513216.1:p.Asp6Tyr, XP_047275313.1:p.Asp6Tyr

Select item 133238811413.

rs1332388114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:31587727 (GRCh38)
6:31555504 (GRCh37)
Canonical SPDI:: NC_000006.12:31587726:C:A,NC_000006.12:31587726:C:G,NC_000006.12:31587726:C:T
Gene:: LST1 (Varview)
Functional Consequence:: missense_variant,intron_variant,synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31587727C>A, NC_000006.12:g.31587727C>G, NC_000006.12:g.31587727C>T, NC_000006.11:g.31555504C>A, NC_000006.11:g.31555504C>G, NC_000006.11:g.31555504C>T, NG_021176.1:g.10259G>T, NG_021176.1:g.10259G>C, NG_021176.1:g.10259G>A, NG_030378.1:g.6549C>A, NG_030378.1:g.6549C>G, NG_030378.1:g.6549C>T, NM_205837.3:c.106C>A, NM_205837.3:c.106C>G, NM_205837.3:c.106C>T, NM_205837.2:c.106C>A, NM_205837.2:c.106C>G, NM_205837.2:c.106C>T, NM_205839.3:c.106C>A, NM_205839.3:c.106C>G, NM_205839.3:c.106C>T, NM_205839.2:c.106C>A, NM_205839.2:c.106C>G, NM_205839.2:c.106C>T, NM_007161.3:c.106C>A, NM_007161.3:c.106C>G, NM_007161.3:c.106C>T, NM_205840.2:c.106C>A, NM_205840.2:c.106C>G, NM_205840.2:c.106C>T, NT_113891.3:g.3065014C>A, NT_113891.3:g.3065014C>G, NT_113891.3:g.3065014C>T, NT_113891.2:g.3065120C>A, NT_113891.2:g.3065120C>G, NT_113891.2:g.3065120C>T, NT_167245.2:g.2835462C>A, NT_167245.2:g.2835462C>G, NT_167245.2:g.2835462C>T, NT_167245.1:g.2841047C>A, NT_167245.1:g.2841047C>G, NT_167245.1:g.2841047C>T, NT_167244.2:g.2920306C>A, NT_167244.2:g.2920306C>G, NT_167244.2:g.2920306C>T, NT_167244.1:g.2870222C>A, NT_167244.1:g.2870222C>G, NT_167244.1:g.2870222C>T, NT_167249.2:g.2887008C>A, NT_167249.2:g.2887008C>G, NT_167249.2:g.2887008C>T, NT_167249.1:g.2886306C>A, NT_167249.1:g.2886306C>G, NT_167249.1:g.2886306C>T, NT_167247.2:g.2929622C>A, NT_167247.2:g.2929622C>G, NT_167247.2:g.2929622C>T, NT_167247.1:g.2935207C>A, NT_167247.1:g.2935207C>G, NT_167247.1:g.2935207C>T, NT_167246.2:g.2892768C>A, NT_167246.2:g.2892768C>G, NT_167246.2:g.2892768C>T, NT_167246.1:g.2898388C>A, NT_167246.1:g.2898388C>G, NT_167246.1:g.2898388C>T, NT_167248.2:g.2843548C>A, NT_167248.2:g.2843548C>G, NT_167248.2:g.2843548C>T, NT_167248.1:g.2849144C>A, NT_167248.1:g.2849144C>G, NT_167248.1:g.2849144C>T, XM_006715206.4:c.106C>A, XM_006715206.4:c.106C>G, XM_006715206.4:c.106C>T, XM_006715206.3:c.106C>A, XM_006715206.3:c.106C>G, XM_006715206.3:c.106C>T, XM_006715206.2:c.106C>A, XM_006715206.2:c.106C>G, XM_006715206.2:c.106C>T, XM_006715206.1:c.106C>A, XM_006715206.1:c.106C>G, XM_006715206.1:c.106C>T, XM_006715210.4:c.106C>A, XM_006715210.4:c.106C>G, XM_006715210.4:c.106C>T, XM_006715210.3:c.106C>A, XM_006715210.3:c.106C>G, XM_006715210.3:c.106C>T, XM_006715210.2:c.106C>A, XM_006715210.2:c.106C>G, XM_006715210.2:c.106C>T, XM_006715210.1:c.106C>A, XM_006715210.1:c.106C>G, XM_006715210.1:c.106C>T, XM_011514914.3:c.106C>A, XM_011514914.3:c.106C>G, XM_011514914.3:c.106C>T, XM_011514914.2:c.106C>A, XM_011514914.2:c.106C>G, XM_011514914.2:c.106C>T, XM_011514914.1:c.106C>A, XM_011514914.1:c.106C>G, XM_011514914.1:c.106C>T, XM_047419357.1:c.106C>A, XM_047419357.1:c.106C>G, XM_047419357.1:c.106C>T, NP_995309.2:p.Arg36Gly, NP_995309.2:p.Arg36Ter, NP_995311.2:p.Arg36Gly, NP_995311.2:p.Arg36Ter, NP_009092.3:p.Arg36Gly, NP_009092.3:p.Arg36Ter, NP_995312.2:p.Arg36Gly, NP_995312.2:p.Arg36Ter, XP_006715269.1:p.Arg36Gly, XP_006715269.1:p.Arg36Ter, XP_006715273.1:p.Arg36Gly, XP_006715273.1:p.Arg36Ter, XP_011513216.1:p.Arg36Gly, XP_011513216.1:p.Arg36Ter, XP_047275313.1:p.Arg36Gly, XP_047275313.1:p.Arg36Ter

Select item 131730855814.

rs1317308558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31587733 (GRCh38)
6:31555510 (GRCh37)
Canonical SPDI:: NC_000006.12:31587732:G:A,NC_000006.12:31587732:G:C
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.31587733G>A, NC_000006.12:g.31587733G>C, NC_000006.11:g.31555510G>A, NC_000006.11:g.31555510G>C, NG_021176.1:g.10253C>T, NG_021176.1:g.10253C>G, NG_030378.1:g.6555G>A, NG_030378.1:g.6555G>C, NM_205837.3:c.112G>A, NM_205837.3:c.112G>C, NM_205837.2:c.112G>A, NM_205837.2:c.112G>C, NM_205839.3:c.112G>A, NM_205839.3:c.112G>C, NM_205839.2:c.112G>A, NM_205839.2:c.112G>C, NM_007161.3:c.112G>A, NM_007161.3:c.112G>C, NM_205840.2:c.112G>A, NM_205840.2:c.112G>C, NT_113891.3:g.3065020G>A, NT_113891.3:g.3065020G>C, NT_113891.2:g.3065126G>A, NT_113891.2:g.3065126G>C, NT_167245.2:g.2835468G>A, NT_167245.2:g.2835468G>C, NT_167245.1:g.2841053G>A, NT_167245.1:g.2841053G>C, NT_167244.2:g.2920312G>A, NT_167244.2:g.2920312G>C, NT_167244.1:g.2870228G>A, NT_167244.1:g.2870228G>C, NT_167249.2:g.2887014G>A, NT_167249.2:g.2887014G>C, NT_167249.1:g.2886312G>A, NT_167249.1:g.2886312G>C, NT_167247.2:g.2929628G>A, NT_167247.2:g.2929628G>C, NT_167247.1:g.2935213G>A, NT_167247.1:g.2935213G>C, NT_167246.2:g.2892774G>A, NT_167246.2:g.2892774G>C, NT_167246.1:g.2898394G>A, NT_167246.1:g.2898394G>C, NT_167248.2:g.2843554G>A, NT_167248.2:g.2843554G>C, NT_167248.1:g.2849150G>A, NT_167248.1:g.2849150G>C, XM_006715206.4:c.112G>A, XM_006715206.4:c.112G>C, XM_006715206.3:c.112G>A, XM_006715206.3:c.112G>C, XM_006715206.2:c.112G>A, XM_006715206.2:c.112G>C, XM_006715206.1:c.112G>A, XM_006715206.1:c.112G>C, XM_006715210.4:c.112G>A, XM_006715210.4:c.112G>C, XM_006715210.3:c.112G>A, XM_006715210.3:c.112G>C, XM_006715210.2:c.112G>A, XM_006715210.2:c.112G>C, XM_006715210.1:c.112G>A, XM_006715210.1:c.112G>C, XM_011514914.3:c.112G>A, XM_011514914.3:c.112G>C, XM_011514914.2:c.112G>A, XM_011514914.2:c.112G>C, XM_011514914.1:c.112G>A, XM_011514914.1:c.112G>C, XM_047419357.1:c.112G>A, XM_047419357.1:c.112G>C, NP_995309.2:p.Ala38Thr, NP_995309.2:p.Ala38Pro, NP_995311.2:p.Val38Ile, NP_995311.2:p.Val38Leu, NP_009092.3:p.Val38Ile, NP_009092.3:p.Val38Leu, NP_995312.2:p.Gly38Ser, NP_995312.2:p.Gly38Arg, XP_006715269.1:p.Val38Ile, XP_006715269.1:p.Val38Leu, XP_006715273.1:p.Gly38Ser, XP_006715273.1:p.Gly38Arg, XP_011513216.1:p.Val38Ile, XP_011513216.1:p.Val38Leu, XP_047275313.1:p.Val38Ile, XP_047275313.1:p.Val38Leu

Select item 131597625815.

rs1315976258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31587711 (GRCh38)
6:31555488 (GRCh37)
Canonical SPDI:: NC_000006.12:31587710:C:T
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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.31587711C>T, NC_000006.11:g.31555488C>T, NG_021176.1:g.10275G>A, NG_030378.1:g.6533C>T, NM_205837.3:c.90C>T, NM_205837.2:c.90C>T, NM_205839.3:c.90C>T, NM_205839.2:c.90C>T, NM_007161.3:c.90C>T, NM_205840.2:c.90C>T, NT_113891.3:g.3064998C>T, NT_113891.2:g.3065104C>T, NT_167245.2:g.2835446C>T, NT_167245.1:g.2841031C>T, NT_167244.2:g.2920290C>T, NT_167244.1:g.2870206C>T, NT_167249.2:g.2886992C>T, NT_167249.1:g.2886290C>T, NT_167247.2:g.2929606C>T, NT_167247.1:g.2935191C>T, NT_167246.2:g.2892752C>T, NT_167246.1:g.2898372C>T, NT_167248.2:g.2843532C>T, NT_167248.1:g.2849128C>T, XM_006715206.4:c.90C>T, XM_006715206.3:c.90C>T, XM_006715206.2:c.90C>T, XM_006715206.1:c.90C>T, XM_006715210.4:c.90C>T, XM_006715210.3:c.90C>T, XM_006715210.2:c.90C>T, XM_006715210.1:c.90C>T, XM_011514914.3:c.90C>T, XM_011514914.2:c.90C>T, XM_011514914.1:c.90C>T, XM_047419357.1:c.90C>T

Select item 130436885816.

rs1304368858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:31587656 (GRCh38)
6:31555433 (GRCh37)
Canonical SPDI:: NC_000006.12:31587655:G:C,NC_000006.12:31587655:G:T
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31587656G>C, NC_000006.12:g.31587656G>T, NC_000006.11:g.31555433G>C, NC_000006.11:g.31555433G>T, NG_021176.1:g.10330C>G, NG_021176.1:g.10330C>A, NG_030378.1:g.6478G>C, NG_030378.1:g.6478G>T, NM_205837.3:c.35G>C, NM_205837.3:c.35G>T, NM_205837.2:c.35G>C, NM_205837.2:c.35G>T, NM_205839.3:c.35G>C, NM_205839.3:c.35G>T, NM_205839.2:c.35G>C, NM_205839.2:c.35G>T, NM_007161.3:c.35G>C, NM_007161.3:c.35G>T, NM_205840.2:c.35G>C, NM_205840.2:c.35G>T, NT_113891.3:g.3064943G>C, NT_113891.3:g.3064943G>T, NT_113891.2:g.3065049G>C, NT_113891.2:g.3065049G>T, NT_167245.2:g.2835391G>C, NT_167245.2:g.2835391G>T, NT_167245.1:g.2840976G>C, NT_167245.1:g.2840976G>T, NT_167244.2:g.2920235G>C, NT_167244.2:g.2920235G>T, NT_167244.1:g.2870151G>C, NT_167244.1:g.2870151G>T, NT_167249.2:g.2886937G>C, NT_167249.2:g.2886937G>T, NT_167249.1:g.2886235G>C, NT_167249.1:g.2886235G>T, NT_167247.2:g.2929551G>C, NT_167247.2:g.2929551G>T, NT_167247.1:g.2935136G>C, NT_167247.1:g.2935136G>T, NT_167246.2:g.2892697G>C, NT_167246.2:g.2892697G>T, NT_167246.1:g.2898317G>C, NT_167246.1:g.2898317G>T, NT_167248.2:g.2843477G>C, NT_167248.2:g.2843477G>T, NT_167248.1:g.2849073G>C, NT_167248.1:g.2849073G>T, XM_006715206.4:c.35G>C, XM_006715206.4:c.35G>T, XM_006715206.3:c.35G>C, XM_006715206.3:c.35G>T, XM_006715206.2:c.35G>C, XM_006715206.2:c.35G>T, XM_006715206.1:c.35G>C, XM_006715206.1:c.35G>T, XM_006715210.4:c.35G>C, XM_006715210.4:c.35G>T, XM_006715210.3:c.35G>C, XM_006715210.3:c.35G>T, XM_006715210.2:c.35G>C, XM_006715210.2:c.35G>T, XM_006715210.1:c.35G>C, XM_006715210.1:c.35G>T, XM_011514914.3:c.35G>C, XM_011514914.3:c.35G>T, XM_011514914.2:c.35G>C, XM_011514914.2:c.35G>T, XM_011514914.1:c.35G>C, XM_011514914.1:c.35G>T, XM_047419357.1:c.35G>C, XM_047419357.1:c.35G>T, NP_995309.2:p.Gly12Ala, NP_995309.2:p.Gly12Val, NP_995311.2:p.Gly12Ala, NP_995311.2:p.Gly12Val, NP_009092.3:p.Gly12Ala, NP_009092.3:p.Gly12Val, NP_995312.2:p.Gly12Ala, NP_995312.2:p.Gly12Val, XP_006715269.1:p.Gly12Ala, XP_006715269.1:p.Gly12Val, XP_006715273.1:p.Gly12Ala, XP_006715273.1:p.Gly12Val, XP_011513216.1:p.Gly12Ala, XP_011513216.1:p.Gly12Val, XP_047275313.1:p.Gly12Ala, XP_047275313.1:p.Gly12Val

Select item 129801418817.

rs1298014188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31587660 (GRCh38)
6:31555437 (GRCh37)
Canonical SPDI:: NC_000006.12:31587659:C:T
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000223/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31587660C>T, NC_000006.11:g.31555437C>T, NG_021176.1:g.10326G>A, NG_030378.1:g.6482C>T, NM_205837.3:c.39C>T, NM_205837.2:c.39C>T, NM_205839.3:c.39C>T, NM_205839.2:c.39C>T, NM_007161.3:c.39C>T, NM_205840.2:c.39C>T, NT_113891.3:g.3064947C>T, NT_113891.2:g.3065053C>T, NT_167245.2:g.2835395C>T, NT_167245.1:g.2840980C>T, NT_167244.2:g.2920239C>T, NT_167244.1:g.2870155C>T, NT_167249.2:g.2886941C>T, NT_167249.1:g.2886239C>T, NT_167247.2:g.2929555C>T, NT_167247.1:g.2935140C>T, NT_167246.2:g.2892701C>T, NT_167246.1:g.2898321C>T, NT_167248.2:g.2843481C>T, NT_167248.1:g.2849077C>T, XM_006715206.4:c.39C>T, XM_006715206.3:c.39C>T, XM_006715206.2:c.39C>T, XM_006715206.1:c.39C>T, XM_006715210.4:c.39C>T, XM_006715210.3:c.39C>T, XM_006715210.2:c.39C>T, XM_006715210.1:c.39C>T, XM_011514914.3:c.39C>T, XM_011514914.2:c.39C>T, XM_011514914.1:c.39C>T, XM_047419357.1:c.39C>T

Select item 128895282618.

rs1288952826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31588520 (GRCh38)
6:31556297 (GRCh37)
Canonical SPDI:: NC_000006.12:31588519:C:T
Gene:: LST1 (Varview), NCR3 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant,500B_downstream_variant
HGVS:: NC_000006.12:g.31588520C>T, NC_000006.11:g.31556297C>T, NG_021176.1:g.9466G>A, NG_030378.1:g.7342C>T, NM_205837.3:c.136C>T, NM_205837.2:c.136C>T, NM_205839.3:c.138C>T, NM_205839.2:c.138C>T, NM_007161.3:c.159C>T, NM_205838.3:c.45C>T, NM_205838.2:c.45C>T, NM_205840.2:c.115C>T, NR_029461.2:n.161C>T, NR_029461.1:n.259C>T, NM_001166538.1:c.66C>T, NT_113891.3:g.3065803C>T, NT_113891.2:g.3065909C>T, NT_167245.2:g.2836257C>T, NT_167245.1:g.2841842C>T, NT_167244.2:g.2921099C>T, NT_167244.1:g.2871015C>T, NT_167249.2:g.2887801C>T, NT_167249.1:g.2887099C>T, NT_167247.2:g.2930413C>T, NT_167247.1:g.2935998C>T, NT_167246.2:g.2893561C>T, NT_167246.1:g.2899181C>T, NT_167248.2:g.2844343C>T, NT_167248.1:g.2849939C>T, XM_006715206.4:c.159C>T, XM_006715206.3:c.159C>T, XM_006715206.2:c.159C>T, XM_006715206.1:c.159C>T, XM_006715210.4:c.115C>T, XM_006715210.3:c.115C>T, XM_006715210.2:c.115C>T, XM_006715210.1:c.115C>T, XM_006715209.4:c.66C>T, XM_006715209.3:c.66C>T, XM_006715209.2:c.66C>T, XM_006715209.1:c.66C>T, XM_011514914.3:c.159C>T, XM_011514914.2:c.159C>T, XM_011514914.1:c.159C>T, XM_047419357.1:c.138C>T, NP_995309.2:p.Pro46Ser, NP_995312.2:p.Pro39Ser, XP_006715273.1:p.Pro39Ser

Select item 128470703719.

rs1284707037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31587658 (GRCh38)
6:31555435 (GRCh37)
Canonical SPDI:: NC_000006.12:31587657:G:A
Gene:: LST1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31587658G>A, NC_000006.11:g.31555435G>A, NG_021176.1:g.10328C>T, NG_030378.1:g.6480G>A, NM_205837.3:c.37G>A, NM_205837.2:c.37G>A, NM_205839.3:c.37G>A, NM_205839.2:c.37G>A, NM_007161.3:c.37G>A, NM_205840.2:c.37G>A, NT_113891.3:g.3064945G>A, NT_113891.2:g.3065051G>A, NT_167245.2:g.2835393G>A, NT_167245.1:g.2840978G>A, NT_167244.2:g.2920237G>A, NT_167244.1:g.2870153G>A, NT_167249.2:g.2886939G>A, NT_167249.1:g.2886237G>A, NT_167247.2:g.2929553G>A, NT_167247.1:g.2935138G>A, NT_167246.2:g.2892699G>A, NT_167246.1:g.2898319G>A, NT_167248.2:g.2843479G>A, NT_167248.1:g.2849075G>A, XM_006715206.4:c.37G>A, XM_006715206.3:c.37G>A, XM_006715206.2:c.37G>A, XM_006715206.1:c.37G>A, XM_006715210.4:c.37G>A, XM_006715210.3:c.37G>A, XM_006715210.2:c.37G>A, XM_006715210.1:c.37G>A, XM_011514914.3:c.37G>A, XM_011514914.2:c.37G>A, XM_011514914.1:c.37G>A, XM_047419357.1:c.37G>A, NP_995309.2:p.Gly13Ser, NP_995311.2:p.Gly13Ser, NP_009092.3:p.Gly13Ser, NP_995312.2:p.Gly13Ser, XP_006715269.1:p.Gly13Ser, XP_006715273.1:p.Gly13Ser, XP_011513216.1:p.Gly13Ser, XP_047275313.1:p.Gly13Ser

Select item 127134103720.

rs1271341037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31587643 (GRCh38)
6:31555420 (GRCh37)
Canonical SPDI:: NC_000006.12:31587642:A:G
Gene:: LST1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.31587643A>G, NC_000006.11:g.31555420A>G, NG_021176.1:g.10343T>C, NG_030378.1:g.6465A>G, NM_205837.3:c.22A>G, NM_205837.2:c.22A>G, NM_205839.3:c.22A>G, NM_205839.2:c.22A>G, NM_007161.3:c.22A>G, NM_205840.2:c.22A>G, NT_113891.3:g.3064930A>G, NT_113891.2:g.3065036A>G, NT_167245.2:g.2835378A>G, NT_167245.1:g.2840963A>G, NT_167244.2:g.2920222A>G, NT_167244.1:g.2870138A>G, NT_167249.2:g.2886924A>G, NT_167249.1:g.2886222A>G, NT_167247.2:g.2929538A>G, NT_167247.1:g.2935123A>G, NT_167246.2:g.2892684A>G, NT_167246.1:g.2898304A>G, NT_167248.2:g.2843464A>G, NT_167248.1:g.2849060A>G, XM_006715206.4:c.22A>G, XM_006715206.3:c.22A>G, XM_006715206.2:c.22A>G, XM_006715206.1:c.22A>G, XM_006715210.4:c.22A>G, XM_006715210.3:c.22A>G, XM_006715210.2:c.22A>G, XM_006715210.1:c.22A>G, XM_011514914.3:c.22A>G, XM_011514914.2:c.22A>G, XM_011514914.1:c.22A>G, XM_047419357.1:c.22A>G, NP_995309.2:p.Ile8Val, NP_995311.2:p.Ile8Val, NP_009092.3:p.Ile8Val, NP_995312.2:p.Ile8Val, XP_006715269.1:p.Ile8Val, XP_006715273.1:p.Ile8Val, XP_011513216.1:p.Ile8Val, XP_047275313.1:p.Ile8Val

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