SNP Links for Protein (Select 530381450) - SNP

Select item 14897238471.

rs1489723847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33722795 (GRCh38)
6:33690572 (GRCh37)
Canonical SPDI:: NC_000006.12:33722794:A:G
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.33722795A>G, NC_000006.11:g.33690572A>G, NM_054111.5:c.1158T>C, NM_054111.4:c.1158T>C, XM_005248843.5:c.819T>C, XM_005248843.4:c.819T>C, XM_005248843.3:c.819T>C, XM_005248843.2:c.819T>C, XM_005248843.1:c.819T>C, XM_011514295.4:c.*1512T>C, XM_005248842.4:c.1158T>C, XM_005248842.3:c.1158T>C, XM_005248842.2:c.1158T>C, XM_005248842.1:c.1158T>C, XM_024446324.2:c.1158T>C, XM_024446324.1:c.1158T>C, XM_024446323.2:c.1158T>C, XM_024446323.1:c.1158T>C, NM_001142883.2:c.1158T>C, NM_001142883.1:c.1158T>C, XM_024446325.2:c.1158T>C, XM_024446325.1:c.1158T>C, XM_047418168.1:c.1158T>C

Select item 14870600802.

rs1487060080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33722863 (GRCh38)
6:33690640 (GRCh37)
Canonical SPDI:: NC_000006.12:33722862:C:T
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.33722863C>T, NC_000006.11:g.33690640C>T, NM_054111.5:c.1090G>A, NM_054111.4:c.1090G>A, XM_005248843.5:c.751G>A, XM_005248843.4:c.751G>A, XM_005248843.3:c.751G>A, XM_005248843.2:c.751G>A, XM_005248843.1:c.751G>A, XM_011514295.4:c.*1444G>A, XM_005248842.4:c.1090G>A, XM_005248842.3:c.1090G>A, XM_005248842.2:c.1090G>A, XM_005248842.1:c.1090G>A, XM_024446324.2:c.1090G>A, XM_024446324.1:c.1090G>A, XM_024446323.2:c.1090G>A, XM_024446323.1:c.1090G>A, NM_001142883.2:c.1090G>A, NM_001142883.1:c.1090G>A, XM_024446325.2:c.1090G>A, XM_024446325.1:c.1090G>A, XM_047418168.1:c.1090G>A, NP_473452.2:p.Asp364Asn, XP_005248900.1:p.Asp251Asn, XP_005248899.1:p.Asp364Asn, XP_024302092.1:p.Asp364Asn, XP_024302091.1:p.Asp364Asn, NP_001136355.1:p.Asp364Asn, XP_024302093.1:p.Asp364Asn, XP_047274124.1:p.Asp364Asn

Select item 14823476223.

rs1482347622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33722835 (GRCh38)
6:33690612 (GRCh37)
Canonical SPDI:: NC_000006.12:33722834:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33722835G>A, NC_000006.11:g.33690612G>A, NM_054111.5:c.1118C>T, NM_054111.4:c.1118C>T, XM_005248843.5:c.779C>T, XM_005248843.4:c.779C>T, XM_005248843.3:c.779C>T, XM_005248843.2:c.779C>T, XM_005248843.1:c.779C>T, XM_011514295.4:c.*1472C>T, XM_005248842.4:c.1118C>T, XM_005248842.3:c.1118C>T, XM_005248842.2:c.1118C>T, XM_005248842.1:c.1118C>T, XM_024446324.2:c.1118C>T, XM_024446324.1:c.1118C>T, XM_024446323.2:c.1118C>T, XM_024446323.1:c.1118C>T, NM_001142883.2:c.1118C>T, NM_001142883.1:c.1118C>T, XM_024446325.2:c.1118C>T, XM_024446325.1:c.1118C>T, XM_047418168.1:c.1118C>T, NP_473452.2:p.Thr373Ile, XP_005248900.1:p.Thr260Ile, XP_005248899.1:p.Thr373Ile, XP_024302092.1:p.Thr373Ile, XP_024302091.1:p.Thr373Ile, NP_001136355.1:p.Thr373Ile, XP_024302093.1:p.Thr373Ile, XP_047274124.1:p.Thr373Ile

Select item 14811666524.

rs1481166652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33723000 (GRCh38)
6:33690777 (GRCh37)
Canonical SPDI:: NC_000006.12:33722999:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33723000G>A, NC_000006.11:g.33690777G>A, NM_054111.5:c.953C>T, NM_054111.4:c.953C>T, XM_005248843.5:c.614C>T, XM_005248843.4:c.614C>T, XM_005248843.3:c.614C>T, XM_005248843.2:c.614C>T, XM_005248843.1:c.614C>T, XM_011514295.4:c.*1307C>T, XM_005248842.4:c.953C>T, XM_005248842.3:c.953C>T, XM_005248842.2:c.953C>T, XM_005248842.1:c.953C>T, XM_024446324.2:c.953C>T, XM_024446324.1:c.953C>T, XM_024446323.2:c.953C>T, XM_024446323.1:c.953C>T, NM_001142883.2:c.953C>T, NM_001142883.1:c.953C>T, XM_024446325.2:c.953C>T, XM_024446325.1:c.953C>T, XM_047418168.1:c.953C>T, NP_473452.2:p.Ser318Leu, XP_005248900.1:p.Ser205Leu, XP_005248899.1:p.Ser318Leu, XP_024302092.1:p.Ser318Leu, XP_024302091.1:p.Ser318Leu, NP_001136355.1:p.Ser318Leu, XP_024302093.1:p.Ser318Leu, XP_047274124.1:p.Ser318Leu

Select item 14722192875.

rs1472219287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33723045 (GRCh38)
6:33690822 (GRCh37)
Canonical SPDI:: NC_000006.12:33723044:A:C
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33723045A>C, NC_000006.11:g.33690822A>C, NM_054111.5:c.908T>G, NM_054111.4:c.908T>G, XM_005248843.5:c.569T>G, XM_005248843.4:c.569T>G, XM_005248843.3:c.569T>G, XM_005248843.2:c.569T>G, XM_005248843.1:c.569T>G, XM_011514295.4:c.*1262T>G, XM_005248842.4:c.908T>G, XM_005248842.3:c.908T>G, XM_005248842.2:c.908T>G, XM_005248842.1:c.908T>G, XM_024446324.2:c.908T>G, XM_024446324.1:c.908T>G, XM_024446323.2:c.908T>G, XM_024446323.1:c.908T>G, NM_001142883.2:c.908T>G, NM_001142883.1:c.908T>G, XM_024446325.2:c.908T>G, XM_024446325.1:c.908T>G, XM_047418168.1:c.908T>G, NP_473452.2:p.Leu303Arg, XP_005248900.1:p.Leu190Arg, XP_005248899.1:p.Leu303Arg, XP_024302092.1:p.Leu303Arg, XP_024302091.1:p.Leu303Arg, NP_001136355.1:p.Leu303Arg, XP_024302093.1:p.Leu303Arg, XP_047274124.1:p.Leu303Arg

Select item 14611086656.

rs1461108665 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:33725571 (GRCh38)
6:33693348 (GRCh37)
Canonical SPDI:: NC_000006.12:33725567:ACACA:ACA
Gene:: IP6K3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.33725569CA[1], NC_000006.11:g.33693346CA[1], NM_054111.5:c.637_638del, NM_054111.4:c.637_638del, XM_005248843.5:c.298_299del, XM_005248843.4:c.298_299del, XM_005248843.3:c.298_299del, XM_005248843.2:c.298_299del, XM_005248843.1:c.298_299del, XM_011514295.4:c.637_638del, XM_011514295.3:c.637_638del, XM_011514295.2:c.637_638del, XM_011514295.1:c.637_638del, XM_005248842.4:c.637_638del, XM_005248842.3:c.637_638del, XM_005248842.2:c.637_638del, XM_005248842.1:c.637_638del, XM_024446324.2:c.637_638del, XM_024446324.1:c.637_638del, XM_024446323.2:c.637_638del, XM_024446323.1:c.637_638del, NM_001142883.2:c.637_638del, NM_001142883.1:c.637_638del, XM_024446325.2:c.637_638del, XM_024446325.1:c.637_638del, XM_047418168.1:c.637_638del, NP_473452.2:p.Val213fs, XP_005248900.1:p.Val100fs, XP_011512597.1:p.Val213fs, XP_005248899.1:p.Val213fs, XP_024302092.1:p.Val213fs, XP_024302091.1:p.Val213fs, NP_001136355.1:p.Val213fs, XP_024302093.1:p.Val213fs, XP_047274124.1:p.Val213fs

Select item 14562674617.

rs1456267461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:33726784 (GRCh38)
6:33694561 (GRCh37)
Canonical SPDI:: NC_000006.12:33726783:T:A,NC_000006.12:33726783:T:G
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.001092/2 (Korea1K)
HGVS:: NC_000006.12:g.33726784T>A, NC_000006.12:g.33726784T>G, NC_000006.11:g.33694561T>A, NC_000006.11:g.33694561T>G, NM_054111.5:c.536A>T, NM_054111.5:c.536A>C, NM_054111.4:c.536A>T, NM_054111.4:c.536A>C, XM_005248843.5:c.197A>T, XM_005248843.5:c.197A>C, XM_005248843.4:c.197A>T, XM_005248843.4:c.197A>C, XM_005248843.3:c.197A>T, XM_005248843.3:c.197A>C, XM_005248843.2:c.197A>T, XM_005248843.2:c.197A>C, XM_005248843.1:c.197A>T, XM_005248843.1:c.197A>C, XM_011514295.4:c.536A>T, XM_011514295.4:c.536A>C, XM_011514295.3:c.536A>T, XM_011514295.3:c.536A>C, XM_011514295.2:c.536A>T, XM_011514295.2:c.536A>C, XM_011514295.1:c.536A>T, XM_011514295.1:c.536A>C, XM_005248842.4:c.536A>T, XM_005248842.4:c.536A>C, XM_005248842.3:c.536A>T, XM_005248842.3:c.536A>C, XM_005248842.2:c.536A>T, XM_005248842.2:c.536A>C, XM_005248842.1:c.536A>T, XM_005248842.1:c.536A>C, XM_024446324.2:c.536A>T, XM_024446324.2:c.536A>C, XM_024446324.1:c.536A>T, XM_024446324.1:c.536A>C, XM_024446323.2:c.536A>T, XM_024446323.2:c.536A>C, XM_024446323.1:c.536A>T, XM_024446323.1:c.536A>C, NM_001142883.2:c.536A>T, NM_001142883.2:c.536A>C, NM_001142883.1:c.536A>T, NM_001142883.1:c.536A>C, XM_024446325.2:c.536A>T, XM_024446325.2:c.536A>C, XM_024446325.1:c.536A>T, XM_024446325.1:c.536A>C, XM_047418168.1:c.536A>T, XM_047418168.1:c.536A>C, NP_473452.2:p.His179Leu, NP_473452.2:p.His179Pro, XP_005248900.1:p.His66Leu, XP_005248900.1:p.His66Pro, XP_011512597.1:p.His179Leu, XP_011512597.1:p.His179Pro, XP_005248899.1:p.His179Leu, XP_005248899.1:p.His179Pro, XP_024302092.1:p.His179Leu, XP_024302092.1:p.His179Pro, XP_024302091.1:p.His179Leu, XP_024302091.1:p.His179Pro, NP_001136355.1:p.His179Leu, NP_001136355.1:p.His179Pro, XP_024302093.1:p.His179Leu, XP_024302093.1:p.His179Pro, XP_047274124.1:p.His179Leu, XP_047274124.1:p.His179Pro

Select item 14544647018.

rs1454464701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33722887 (GRCh38)
6:33690664 (GRCh37)
Canonical SPDI:: NC_000006.12:33722886:A:G
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33722887A>G, NC_000006.11:g.33690664A>G, NM_054111.5:c.1066T>C, NM_054111.4:c.1066T>C, XM_005248843.5:c.727T>C, XM_005248843.4:c.727T>C, XM_005248843.3:c.727T>C, XM_005248843.2:c.727T>C, XM_005248843.1:c.727T>C, XM_011514295.4:c.*1420T>C, XM_005248842.4:c.1066T>C, XM_005248842.3:c.1066T>C, XM_005248842.2:c.1066T>C, XM_005248842.1:c.1066T>C, XM_024446324.2:c.1066T>C, XM_024446324.1:c.1066T>C, XM_024446323.2:c.1066T>C, XM_024446323.1:c.1066T>C, NM_001142883.2:c.1066T>C, NM_001142883.1:c.1066T>C, XM_024446325.2:c.1066T>C, XM_024446325.1:c.1066T>C, XM_047418168.1:c.1066T>C, NP_473452.2:p.Ser356Pro, XP_005248900.1:p.Ser243Pro, XP_005248899.1:p.Ser356Pro, XP_024302092.1:p.Ser356Pro, XP_024302091.1:p.Ser356Pro, NP_001136355.1:p.Ser356Pro, XP_024302093.1:p.Ser356Pro, XP_047274124.1:p.Ser356Pro

Select item 14480760009.

rs1448076000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33722985 (GRCh38)
6:33690762 (GRCh37)
Canonical SPDI:: NC_000006.12:33722984:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33722985G>A, NC_000006.11:g.33690762G>A, NM_054111.5:c.968C>T, NM_054111.4:c.968C>T, XM_005248843.5:c.629C>T, XM_005248843.4:c.629C>T, XM_005248843.3:c.629C>T, XM_005248843.2:c.629C>T, XM_005248843.1:c.629C>T, XM_011514295.4:c.*1322C>T, XM_005248842.4:c.968C>T, XM_005248842.3:c.968C>T, XM_005248842.2:c.968C>T, XM_005248842.1:c.968C>T, XM_024446324.2:c.968C>T, XM_024446324.1:c.968C>T, XM_024446323.2:c.968C>T, XM_024446323.1:c.968C>T, NM_001142883.2:c.968C>T, NM_001142883.1:c.968C>T, XM_024446325.2:c.968C>T, XM_024446325.1:c.968C>T, XM_047418168.1:c.968C>T, NP_473452.2:p.Ser323Phe, XP_005248900.1:p.Ser210Phe, XP_005248899.1:p.Ser323Phe, XP_024302092.1:p.Ser323Phe, XP_024302091.1:p.Ser323Phe, NP_001136355.1:p.Ser323Phe, XP_024302093.1:p.Ser323Phe, XP_047274124.1:p.Ser323Phe

Select item 144481586410.

rs1444815864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33723061 (GRCh38)
6:33690838 (GRCh37)
Canonical SPDI:: NC_000006.12:33723060:G:C
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33723061G>C, NC_000006.11:g.33690838G>C, NM_054111.5:c.892C>G, NM_054111.4:c.892C>G, XM_005248843.5:c.553C>G, XM_005248843.4:c.553C>G, XM_005248843.3:c.553C>G, XM_005248843.2:c.553C>G, XM_005248843.1:c.553C>G, XM_011514295.4:c.*1246C>G, XM_005248842.4:c.892C>G, XM_005248842.3:c.892C>G, XM_005248842.2:c.892C>G, XM_005248842.1:c.892C>G, XM_024446324.2:c.892C>G, XM_024446324.1:c.892C>G, XM_024446323.2:c.892C>G, XM_024446323.1:c.892C>G, NM_001142883.2:c.892C>G, NM_001142883.1:c.892C>G, XM_024446325.2:c.892C>G, XM_024446325.1:c.892C>G, XM_047418168.1:c.892C>G, NP_473452.2:p.Leu298Val, XP_005248900.1:p.Leu185Val, XP_005248899.1:p.Leu298Val, XP_024302092.1:p.Leu298Val, XP_024302091.1:p.Leu298Val, NP_001136355.1:p.Leu298Val, XP_024302093.1:p.Leu298Val, XP_047274124.1:p.Leu298Val

Select item 144017678411.

rs1440176784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33726866 (GRCh38)
6:33694643 (GRCh37)
Canonical SPDI:: NC_000006.12:33726865:T:C
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33726866T>C, NC_000006.11:g.33694643T>C, NM_054111.5:c.454A>G, NM_054111.4:c.454A>G, XM_005248843.5:c.115A>G, XM_005248843.4:c.115A>G, XM_005248843.3:c.115A>G, XM_005248843.2:c.115A>G, XM_005248843.1:c.115A>G, XM_011514295.4:c.454A>G, XM_011514295.3:c.454A>G, XM_011514295.2:c.454A>G, XM_011514295.1:c.454A>G, XM_005248842.4:c.454A>G, XM_005248842.3:c.454A>G, XM_005248842.2:c.454A>G, XM_005248842.1:c.454A>G, XM_024446324.2:c.454A>G, XM_024446324.1:c.454A>G, XM_024446323.2:c.454A>G, XM_024446323.1:c.454A>G, NM_001142883.2:c.454A>G, NM_001142883.1:c.454A>G, XM_024446325.2:c.454A>G, XM_024446325.1:c.454A>G, XM_047418168.1:c.454A>G, NP_473452.2:p.Thr152Ala, XP_005248900.1:p.Thr39Ala, XP_011512597.1:p.Thr152Ala, XP_005248899.1:p.Thr152Ala, XP_024302092.1:p.Thr152Ala, XP_024302091.1:p.Thr152Ala, NP_001136355.1:p.Thr152Ala, XP_024302093.1:p.Thr152Ala, XP_047274124.1:p.Thr152Ala

Select item 143998223812.

rs1439982238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33726792 (GRCh38)
6:33694569 (GRCh37)
Canonical SPDI:: NC_000006.12:33726791:C:G
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/2 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.33726792C>G, NC_000006.11:g.33694569C>G, NM_054111.5:c.528G>C, NM_054111.4:c.528G>C, XM_005248843.5:c.189G>C, XM_005248843.4:c.189G>C, XM_005248843.3:c.189G>C, XM_005248843.2:c.189G>C, XM_005248843.1:c.189G>C, XM_011514295.4:c.528G>C, XM_011514295.3:c.528G>C, XM_011514295.2:c.528G>C, XM_011514295.1:c.528G>C, XM_005248842.4:c.528G>C, XM_005248842.3:c.528G>C, XM_005248842.2:c.528G>C, XM_005248842.1:c.528G>C, XM_024446324.2:c.528G>C, XM_024446324.1:c.528G>C, XM_024446323.2:c.528G>C, XM_024446323.1:c.528G>C, NM_001142883.2:c.528G>C, NM_001142883.1:c.528G>C, XM_024446325.2:c.528G>C, XM_024446325.1:c.528G>C, XM_047418168.1:c.528G>C

Select item 143795932213.

rs1437959322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33723127 (GRCh38)
6:33690904 (GRCh37)
Canonical SPDI:: NC_000006.12:33723126:A:C
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33723127A>C, NC_000006.11:g.33690904A>C, NM_054111.5:c.826T>G, NM_054111.4:c.826T>G, XM_005248843.5:c.487T>G, XM_005248843.4:c.487T>G, XM_005248843.3:c.487T>G, XM_005248843.2:c.487T>G, XM_005248843.1:c.487T>G, XM_011514295.4:c.*1180T>G, XM_005248842.4:c.826T>G, XM_005248842.3:c.826T>G, XM_005248842.2:c.826T>G, XM_005248842.1:c.826T>G, XM_024446324.2:c.826T>G, XM_024446324.1:c.826T>G, XM_024446323.2:c.826T>G, XM_024446323.1:c.826T>G, NM_001142883.2:c.826T>G, NM_001142883.1:c.826T>G, XM_024446325.2:c.826T>G, XM_024446325.1:c.826T>G, XM_047418168.1:c.826T>G, NP_473452.2:p.Ser276Ala, XP_005248900.1:p.Ser163Ala, XP_005248899.1:p.Ser276Ala, XP_024302092.1:p.Ser276Ala, XP_024302091.1:p.Ser276Ala, NP_001136355.1:p.Ser276Ala, XP_024302093.1:p.Ser276Ala, XP_047274124.1:p.Ser276Ala

Select item 143652734114.

rs1436527341 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:33727856 (GRCh38)
6:33695633 (GRCh37)
Canonical SPDI:: NC_000006.12:33727855:G:
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33727856del, NC_000006.11:g.33695633del, XM_005248843.5:c.55del, XM_005248843.4:c.55del, XM_005248843.3:c.55del, XM_005248843.2:c.55del, XM_005248843.1:c.55del, XP_005248900.1:p.Gln19fs

Select item 142701478815.

rs1427014788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33722785 (GRCh38)
6:33690562 (GRCh37)
Canonical SPDI:: NC_000006.12:33722784:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33722785G>A, NC_000006.11:g.33690562G>A, NM_054111.5:c.1168C>T, NM_054111.4:c.1168C>T, XM_005248843.5:c.829C>T, XM_005248843.4:c.829C>T, XM_005248843.3:c.829C>T, XM_005248843.2:c.829C>T, XM_005248843.1:c.829C>T, XM_011514295.4:c.*1522C>T, XM_005248842.4:c.1168C>T, XM_005248842.3:c.1168C>T, XM_005248842.2:c.1168C>T, XM_005248842.1:c.1168C>T, XM_024446324.2:c.1168C>T, XM_024446324.1:c.1168C>T, XM_024446323.2:c.1168C>T, XM_024446323.1:c.1168C>T, NM_001142883.2:c.1168C>T, NM_001142883.1:c.1168C>T, XM_024446325.2:c.1168C>T, XM_024446325.1:c.1168C>T, XM_047418168.1:c.1168C>T, NP_473452.2:p.Pro390Ser, XP_005248900.1:p.Pro277Ser, XP_005248899.1:p.Pro390Ser, XP_024302092.1:p.Pro390Ser, XP_024302091.1:p.Pro390Ser, NP_001136355.1:p.Pro390Ser, XP_024302093.1:p.Pro390Ser, XP_047274124.1:p.Pro390Ser

Select item 142373566416.

rs1423735664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33726878 (GRCh38)
6:33694655 (GRCh37)
Canonical SPDI:: NC_000006.12:33726877:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33726878G>A, NC_000006.11:g.33694655G>A, NM_054111.5:c.442C>T, NM_054111.4:c.442C>T, XM_005248843.5:c.103C>T, XM_005248843.4:c.103C>T, XM_005248843.3:c.103C>T, XM_005248843.2:c.103C>T, XM_005248843.1:c.103C>T, XM_011514295.4:c.442C>T, XM_011514295.3:c.442C>T, XM_011514295.2:c.442C>T, XM_011514295.1:c.442C>T, XM_005248842.4:c.442C>T, XM_005248842.3:c.442C>T, XM_005248842.2:c.442C>T, XM_005248842.1:c.442C>T, XM_024446324.2:c.442C>T, XM_024446324.1:c.442C>T, XM_024446323.2:c.442C>T, XM_024446323.1:c.442C>T, NM_001142883.2:c.442C>T, NM_001142883.1:c.442C>T, XM_024446325.2:c.442C>T, XM_024446325.1:c.442C>T, XM_047418168.1:c.442C>T, NP_473452.2:p.Pro148Ser, XP_005248900.1:p.Pro35Ser, XP_011512597.1:p.Pro148Ser, XP_005248899.1:p.Pro148Ser, XP_024302092.1:p.Pro148Ser, XP_024302091.1:p.Pro148Ser, NP_001136355.1:p.Pro148Ser, XP_024302093.1:p.Pro148Ser, XP_047274124.1:p.Pro148Ser

Select item 142207498117.

rs1422074981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33722852 (GRCh38)
6:33690629 (GRCh37)
Canonical SPDI:: NC_000006.12:33722851:C:T
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33722852C>T, NC_000006.11:g.33690629C>T, NM_054111.5:c.1101G>A, NM_054111.4:c.1101G>A, XM_005248843.5:c.762G>A, XM_005248843.4:c.762G>A, XM_005248843.3:c.762G>A, XM_005248843.2:c.762G>A, XM_005248843.1:c.762G>A, XM_011514295.4:c.*1455G>A, XM_005248842.4:c.1101G>A, XM_005248842.3:c.1101G>A, XM_005248842.2:c.1101G>A, XM_005248842.1:c.1101G>A, XM_024446324.2:c.1101G>A, XM_024446324.1:c.1101G>A, XM_024446323.2:c.1101G>A, XM_024446323.1:c.1101G>A, NM_001142883.2:c.1101G>A, NM_001142883.1:c.1101G>A, XM_024446325.2:c.1101G>A, XM_024446325.1:c.1101G>A, XM_047418168.1:c.1101G>A, NP_473452.2:p.Met367Ile, XP_005248900.1:p.Met254Ile, XP_005248899.1:p.Met367Ile, XP_024302092.1:p.Met367Ile, XP_024302091.1:p.Met367Ile, NP_001136355.1:p.Met367Ile, XP_024302093.1:p.Met367Ile, XP_047274124.1:p.Met367Ile

Select item 142014497818.

rs1420144978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33726804 (GRCh38)
6:33694581 (GRCh37)
Canonical SPDI:: NC_000006.12:33726803:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33726804G>A, NC_000006.11:g.33694581G>A, NM_054111.5:c.516C>T, NM_054111.4:c.516C>T, XM_005248843.5:c.177C>T, XM_005248843.4:c.177C>T, XM_005248843.3:c.177C>T, XM_005248843.2:c.177C>T, XM_005248843.1:c.177C>T, XM_011514295.4:c.516C>T, XM_011514295.3:c.516C>T, XM_011514295.2:c.516C>T, XM_011514295.1:c.516C>T, XM_005248842.4:c.516C>T, XM_005248842.3:c.516C>T, XM_005248842.2:c.516C>T, XM_005248842.1:c.516C>T, XM_024446324.2:c.516C>T, XM_024446324.1:c.516C>T, XM_024446323.2:c.516C>T, XM_024446323.1:c.516C>T, NM_001142883.2:c.516C>T, NM_001142883.1:c.516C>T, XM_024446325.2:c.516C>T, XM_024446325.1:c.516C>T, XM_047418168.1:c.516C>T

Select item 141924330019.

rs1419243300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33722828 (GRCh38)
6:33690605 (GRCh37)
Canonical SPDI:: NC_000006.12:33722827:G:A
Gene:: IP6K3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_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.33722828G>A, NC_000006.11:g.33690605G>A, NM_054111.5:c.1125C>T, NM_054111.4:c.1125C>T, XM_005248843.5:c.786C>T, XM_005248843.4:c.786C>T, XM_005248843.3:c.786C>T, XM_005248843.2:c.786C>T, XM_005248843.1:c.786C>T, XM_011514295.4:c.*1479C>T, XM_005248842.4:c.1125C>T, XM_005248842.3:c.1125C>T, XM_005248842.2:c.1125C>T, XM_005248842.1:c.1125C>T, XM_024446324.2:c.1125C>T, XM_024446324.1:c.1125C>T, XM_024446323.2:c.1125C>T, XM_024446323.1:c.1125C>T, NM_001142883.2:c.1125C>T, NM_001142883.1:c.1125C>T, XM_024446325.2:c.1125C>T, XM_024446325.1:c.1125C>T, XM_047418168.1:c.1125C>T

Select item 141915589620.

rs1419155896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 6:33725520 (GRCh38)
6:33693297 (GRCh37)
Canonical SPDI:: NC_000006.12:33725515:CTCCTCC:CTCC
Gene:: IP6K3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.33725517TCC[1], NC_000006.11:g.33693294TCC[1], NM_054111.5:c.685GAG[1], NM_054111.4:c.685GAG[1], XM_005248843.5:c.346GAG[1], XM_005248843.4:c.346GAG[1], XM_005248843.3:c.346GAG[1], XM_005248843.2:c.346GAG[1], XM_005248843.1:c.346GAG[1], XM_011514295.4:c.685GAG[1], XM_011514295.3:c.685GAG[1], XM_011514295.2:c.685GAG[1], XM_011514295.1:c.685GAG[1], XM_005248842.4:c.685GAG[1], XM_005248842.3:c.685GAG[1], XM_005248842.2:c.685GAG[1], XM_005248842.1:c.685GAG[1], XM_024446324.2:c.685GAG[1], XM_024446324.1:c.685GAG[1], XM_024446323.2:c.685GAG[1], XM_024446323.1:c.685GAG[1], NM_001142883.2:c.685GAG[1], NM_001142883.1:c.685GAG[1], XM_024446325.2:c.685GAG[1], XM_024446325.1:c.685GAG[1], XM_047418168.1:c.685GAG[1], NP_473452.2:p.Glu230del, XP_005248900.1:p.Glu117del, XP_011512597.1:p.Glu230del, XP_005248899.1:p.Glu230del, XP_024302092.1:p.Glu230del, XP_024302091.1:p.Glu230del, NP_001136355.1:p.Glu230del, XP_024302093.1:p.Glu230del, XP_047274124.1:p.Glu230del

dbSNP

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Result Filters

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Custom range

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Items: 1 to 20 of 319

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