SNP Links for Nucleotide (Select 312839870) - SNP

Links from Nucleotide

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Select item 14915012831.

rs1491501283 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:31661711 (GRCh38)
6:31629488 (GRCh37)
Canonical SPDI:: NC_000006.12:31661709:AGA:A
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.31661711_31661712del, NC_000006.11:g.31629488_31629489del, NT_113891.3:g.3139001_3139002del, NT_113891.2:g.3139107_3139108del, NT_167248.2:g.2917535_2917536del, NT_167248.1:g.2923131_2923132del, NT_167245.2:g.2909482_2909483del, NT_167245.1:g.2915067_2915068del, NT_167249.2:g.2960994_2960995del, NT_167249.1:g.2960292_2960293del, NT_167246.2:g.2966758_2966759del, NT_167246.1:g.2972378_2972379del, NT_167247.2:g.3003583_3003584del, NT_167247.1:g.3009168_3009169del, XM_005249403.4:c.*555_*556del, NM_033177.4:c.*555_*556del, NM_033177.3:c.*555_*556del, XM_011514909.2:c.*555_*556del, XM_011514910.2:c.*555_*556del, XM_024446549.2:c.*555_*556del, XM_047419350.1:c.*555_*556del, NM_001199237.1:c.*555_*556del, NM_001199238.1:c.*555_*556del, NM_001199239.1:c.*555_*556del, NM_001199240.1:c.*555_*556del, XM_047419351.1:c.*555_*556del, XM_006715204.2:c.*555_*556del

Select item 14909141372.

rs1490914137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31665679 (GRCh38)
6:31633456 (GRCh37)
Canonical SPDI:: NC_000006.12:31665678:G:A,NC_000006.12:31665678:G:C
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.31665679G>A, NC_000006.12:g.31665679G>C, NC_000006.11:g.31633456G>A, NC_000006.11:g.31633456G>C, NT_113891.3:g.3142970G>A, NT_113891.3:g.3142970G>C, NT_113891.2:g.3143076G>A, NT_113891.2:g.3143076G>C, NT_167248.2:g.2921503G>A, NT_167248.2:g.2921503G>C, NT_167248.1:g.2927099G>A, NT_167248.1:g.2927099G>C, NT_167245.2:g.2913450G>A, NT_167245.2:g.2913450G>C, NT_167245.1:g.2919035G>A, NT_167245.1:g.2919035G>C, NT_167249.2:g.2964963G>A, NT_167249.2:g.2964963G>C, NT_167249.1:g.2964261G>A, NT_167249.1:g.2964261G>C, NT_167246.2:g.2970726G>A, NT_167246.2:g.2970726G>C, NT_167246.1:g.2976346G>A, NT_167246.1:g.2976346G>C, NT_167247.2:g.3007551G>A, NT_167247.2:g.3007551G>C, NT_167247.1:g.3013136G>A, NT_167247.1:g.3013136G>C, XM_011514909.2:c.-855C>T, XM_011514909.2:c.-855C>G, XM_011514910.2:c.-852C>T, XM_011514910.2:c.-852C>G, XM_006715204.2:c.-847C>T, XM_006715204.2:c.-847C>G, XM_047419350.1:c.-850C>T, XM_047419350.1:c.-850C>G, NM_001199238.1:c.-371C>T, NM_001199238.1:c.-371C>G, NM_001199239.1:c.-368C>T, NM_001199239.1:c.-368C>G

Select item 14908882693.

rs1490888269 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 6:31664939 (GRCh38)
6:31632716 (GRCh37)
Canonical SPDI:: NC_000006.12:31664935:AGAAGA:AGA
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AGAAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31664936AGA[1], NC_000006.11:g.31632713AGA[1], NT_113891.3:g.3142227AGA[1], NT_113891.2:g.3142333AGA[1], NT_167248.2:g.2920760AGA[1], NT_167248.1:g.2926356AGA[1], NT_167245.2:g.2912707AGA[1], NT_167245.1:g.2918292AGA[1], NT_167249.2:g.2964220AGA[1], NT_167249.1:g.2963518AGA[1], NT_167246.2:g.2969983AGA[1], NT_167246.1:g.2975603AGA[1], NT_167247.2:g.3006808AGA[1], NT_167247.1:g.3012393AGA[1], XM_005249403.4:c.-203TCT[1], XM_005249403.3:c.-203TCT[1], XM_005249403.2:c.-203TCT[1], XM_005249403.1:c.-203TCT[1], NM_033177.4:c.-200TCT[1], NM_033177.3:c.-200TCT[1], XM_011514909.2:c.-203TCT[1], XM_011514909.1:c.-203TCT[1], XM_011514910.2:c.-200TCT[1], XM_011514910.1:c.-200TCT[1], XM_006715204.2:c.-200TCT[1], XM_006715204.1:c.-200TCT[1], XM_047419350.1:c.-203TCT[1], NM_001199238.1:c.-203TCT[1], NM_001199239.1:c.-200TCT[1], NM_001199240.1:c.-203TCT[1], XM_047419351.1:c.-200TCT[1], NM_001199237.1:c.-200TCT[1]

Select item 14894722354.

rs1489472235 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 6:31664077 (GRCh38)
6:31631854 (GRCh37)
Canonical SPDI:: NC_000006.12:31664076:CCCCCC:CCCCC,NC_000006.12:31664076:CCCCCC:CCCCCCC
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31664082del, NC_000006.12:g.31664082dup, NC_000006.11:g.31631859del, NC_000006.11:g.31631859dup, NT_113891.3:g.3141373del, NT_113891.3:g.3141373dup, NT_113891.2:g.3141479del, NT_113891.2:g.3141479dup, NT_167248.2:g.2919906del, NT_167248.2:g.2919906dup, NT_167248.1:g.2925502del, NT_167248.1:g.2925502dup, NT_167245.2:g.2911853del, NT_167245.2:g.2911853dup, NT_167245.1:g.2917438del, NT_167245.1:g.2917438dup, NT_167249.2:g.2963366del, NT_167249.2:g.2963366dup, NT_167249.1:g.2962664del, NT_167249.1:g.2962664dup, NT_167246.2:g.2969129del, NT_167246.2:g.2969129dup, NT_167246.1:g.2974749del, NT_167246.1:g.2974749dup, NT_167247.2:g.3005954del, NT_167247.2:g.3005954dup, NT_167247.1:g.3011539del, NT_167247.1:g.3011539dup, XM_005249403.4:c.402del, XM_005249403.4:c.402dup, XM_005249403.3:c.402del, XM_005249403.3:c.402dup, XM_005249403.2:c.402del, XM_005249403.2:c.402dup, XM_005249403.1:c.402del, XM_005249403.1:c.402dup, NM_033177.4:c.402del, NM_033177.4:c.402dup, NM_033177.3:c.402del, NM_033177.3:c.402dup, XM_011514909.2:c.402del, XM_011514909.2:c.402dup, XM_011514909.1:c.402del, XM_011514909.1:c.402dup, XM_011514910.2:c.402del, XM_011514910.2:c.402dup, XM_011514910.1:c.402del, XM_011514910.1:c.402dup, XM_024446549.2:c.402del, XM_024446549.2:c.402dup, XM_024446549.1:c.402del, XM_024446549.1:c.402dup, XM_047419350.1:c.402del, XM_047419350.1:c.402dup, NM_001199237.1:c.402del, NM_001199237.1:c.402dup, NM_001199238.1:c.402del, NM_001199238.1:c.402dup, NM_001199239.1:c.402del, NM_001199239.1:c.402dup, NM_001199240.1:c.402del, NM_001199240.1:c.402dup, XM_047419351.1:c.402del, XM_047419351.1:c.402dup, XM_006715204.2:c.402del, XM_006715204.2:c.402dup, XM_006715204.1:c.402del, XM_006715204.1:c.402dup, XP_005249460.1:p.Asn135fs, XP_005249460.1:p.Asn135fs, NP_149417.1:p.Asn135fs, NP_149417.1:p.Asn135fs, XP_011513211.1:p.Asn135fs, XP_011513211.1:p.Asn135fs, XP_011513212.1:p.Asn135fs, XP_011513212.1:p.Asn135fs, XP_024302317.1:p.Asn135fs, XP_024302317.1:p.Asn135fs, XP_047275306.1:p.Asn135fs, XP_047275306.1:p.Asn135fs, NP_001186166.1:p.Asn135fs, NP_001186166.1:p.Asn135fs, NP_001186167.1:p.Asn135fs, NP_001186167.1:p.Asn135fs, NP_001186168.1:p.Asn135fs, NP_001186168.1:p.Asn135fs, NP_001186169.1:p.Asn135fs, NP_001186169.1:p.Asn135fs, XP_047275307.1:p.Asn135fs, XP_047275307.1:p.Asn135fs, XP_006715267.1:p.Asn135fs, XP_006715267.1:p.Asn135fs

Select item 14885031205.

rs1488503120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31664431 (GRCh38)
6:31632208 (GRCh37)
Canonical SPDI:: NC_000006.12:31664430:G:C
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31664431G>C, NC_000006.11:g.31632208G>C, NT_113891.3:g.3141722G>C, NT_113891.2:g.3141828G>C, NT_167248.2:g.2920255G>C, NT_167248.1:g.2925851G>C, NT_167245.2:g.2912202G>C, NT_167245.1:g.2917787G>C, NT_167249.2:g.2963715G>C, NT_167249.1:g.2963013G>C, NT_167246.2:g.2969478G>C, NT_167246.1:g.2975098G>C, NT_167247.2:g.3006303G>C, NT_167247.1:g.3011888G>C, XM_005249403.4:c.48C>G, XM_005249403.3:c.48C>G, XM_005249403.2:c.48C>G, XM_005249403.1:c.48C>G, NM_033177.4:c.48C>G, NM_033177.3:c.48C>G, XM_011514909.2:c.48C>G, XM_011514909.1:c.48C>G, XM_011514910.2:c.48C>G, XM_011514910.1:c.48C>G, XM_006715204.2:c.48C>G, XM_006715204.1:c.48C>G, XM_024446549.2:c.48C>G, XM_024446549.1:c.48C>G, XM_047419350.1:c.48C>G, NM_001199238.1:c.48C>G, NM_001199239.1:c.48C>G, NM_001199240.1:c.48C>G, XM_047419351.1:c.48C>G, NM_001199237.1:c.48C>G, XP_005249460.1:p.Ser16Arg, NP_149417.1:p.Ser16Arg, XP_011513211.1:p.Ser16Arg, XP_011513212.1:p.Ser16Arg, XP_006715267.1:p.Ser16Arg, XP_024302317.1:p.Ser16Arg, XP_047275306.1:p.Ser16Arg, NP_001186167.1:p.Ser16Arg, NP_001186168.1:p.Ser16Arg, NP_001186169.1:p.Ser16Arg, XP_047275307.1:p.Ser16Arg, NP_001186166.1:p.Ser16Arg

Select item 14871473706.

rs1487147370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31661997 (GRCh38)
6:31629774 (GRCh37)
Canonical SPDI:: NC_000006.12:31661996:G:A
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_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.31661997G>A, NC_000006.11:g.31629774G>A, NT_113891.3:g.3139287G>A, NT_113891.2:g.3139393G>A, NT_167248.2:g.2917820G>A, NT_167248.1:g.2923416G>A, NT_167245.2:g.2909768G>A, NT_167245.1:g.2915353G>A, NT_167249.2:g.2961279G>A, NT_167249.1:g.2960577G>A, NT_167246.2:g.2967044G>A, NT_167246.1:g.2972664G>A, NT_167247.2:g.3003869G>A, NT_167247.1:g.3009454G>A, XM_005249403.4:c.*269C>T, NM_033177.4:c.*269C>T, NM_033177.3:c.*269C>T, XM_011514909.2:c.*269C>T, XM_011514910.2:c.*269C>T, XM_024446549.2:c.*269C>T, XM_047419350.1:c.*269C>T, NM_001199237.1:c.*269C>T, NM_001199238.1:c.*269C>T, NM_001199239.1:c.*269C>T, NM_001199240.1:c.*269C>T, XM_047419351.1:c.*269C>T, XM_006715204.2:c.*269C>T

Select item 14868000777.

rs1486800077 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:31661899 (GRCh38)
6:31629676 (GRCh37)
Canonical SPDI:: NC_000006.12:31661898:A:
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31661899del, NC_000006.11:g.31629676del, NT_113891.3:g.3139189del, NT_113891.2:g.3139295del, NT_167248.2:g.2917722del, NT_167248.1:g.2923318del, NT_167245.2:g.2909670del, NT_167245.1:g.2915255del, NT_167249.2:g.2961181del, NT_167249.1:g.2960479del, NT_167246.2:g.2966946del, NT_167246.1:g.2972566del, NT_167247.2:g.3003771del, NT_167247.1:g.3009356del, XM_005249403.4:c.*367del, NM_033177.4:c.*367del, NM_033177.3:c.*367del, XM_011514909.2:c.*367del, XM_011514910.2:c.*367del, XM_024446549.2:c.*367del, XM_047419350.1:c.*367del, NM_001199237.1:c.*367del, NM_001199238.1:c.*367del, NM_001199239.1:c.*367del, NM_001199240.1:c.*367del, XM_047419351.1:c.*367del, XM_006715204.2:c.*367del

Select item 14851870658.

rs1485187065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31661321 (GRCh38)
6:31629098 (GRCh37)
Canonical SPDI:: NC_000006.12:31661320:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31661321C>T, NC_000006.11:g.31629098C>T, NT_113891.3:g.3138611C>T, NT_113891.2:g.3138717C>T, NT_167248.2:g.2917144C>T, NT_167248.1:g.2922740C>T, NT_167245.2:g.2909092C>T, NT_167245.1:g.2914677C>T, NT_167249.2:g.2960603C>T, NT_167249.1:g.2959901C>T, NT_167246.2:g.2966368C>T, NT_167246.1:g.2971988C>T, NT_167247.2:g.3003193C>T, NT_167247.1:g.3008778C>T, XM_005249403.4:c.*945G>A, NM_033177.4:c.*945G>A, NM_033177.3:c.*945G>A, XM_011514909.2:c.*945G>A, XM_011514910.2:c.*945G>A, XM_006715204.2:c.*945G>A, XM_024446549.2:c.*945G>A, XM_047419350.1:c.*945G>A, NM_001199238.1:c.*945G>A, NM_001199239.1:c.*945G>A, NM_001199240.1:c.*945G>A, XM_047419351.1:c.*945G>A, NM_001199237.1:c.*945G>A

Select item 14844632689.

rs1484463268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31662607 (GRCh38)
6:31630384 (GRCh37)
Canonical SPDI:: NC_000006.12:31662606:G:A
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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.31662607G>A, NC_000006.11:g.31630384G>A, NT_113891.3:g.3139897G>A, NT_113891.2:g.3140003G>A, NT_167248.2:g.2918430G>A, NT_167248.1:g.2924026G>A, NT_167245.2:g.2910378G>A, NT_167245.1:g.2915963G>A, NT_167249.2:g.2961889G>A, NT_167249.1:g.2961187G>A, NT_167246.2:g.2967654G>A, NT_167246.1:g.2973274G>A, NT_167247.2:g.3004479G>A, NT_167247.1:g.3010064G>A, XM_005249403.4:c.730C>T, XM_005249403.3:c.730C>T, XM_005249403.2:c.730C>T, XM_005249403.1:c.730C>T, NM_033177.4:c.730C>T, NM_033177.3:c.730C>T, XM_011514909.2:c.730C>T, XM_011514909.1:c.730C>T, XM_011514910.2:c.730C>T, XM_011514910.1:c.730C>T, XM_024446549.2:c.730C>T, XM_024446549.1:c.730C>T, XM_047419350.1:c.730C>T, NM_001199237.1:c.730C>T, NM_001199238.1:c.730C>T, NM_001199239.1:c.730C>T, NM_001199240.1:c.730C>T, XM_047419351.1:c.730C>T, XM_006715204.2:c.730C>T, XM_006715204.1:c.730C>T, XP_005249460.1:p.Pro244Ser, NP_149417.1:p.Pro244Ser, XP_011513211.1:p.Pro244Ser, XP_011513212.1:p.Pro244Ser, XP_024302317.1:p.Pro244Ser, XP_047275306.1:p.Pro244Ser, NP_001186166.1:p.Pro244Ser, NP_001186167.1:p.Pro244Ser, NP_001186168.1:p.Pro244Ser, NP_001186169.1:p.Pro244Ser, XP_047275307.1:p.Pro244Ser, XP_006715267.1:p.Pro244Ser

Select item 148377769810.

rs1483777698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31665839 (GRCh38)
6:31633616 (GRCh37)
Canonical SPDI:: NC_000006.12:31665838:T:G
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31665839T>G, NC_000006.11:g.31633616T>G, NT_113891.3:g.3143130T>G, NT_113891.2:g.3143236T>G, NT_167248.2:g.2921663T>G, NT_167248.1:g.2927259T>G, NT_167245.2:g.2913610T>G, NT_167245.1:g.2919195T>G, NT_167249.2:g.2965123T>G, NT_167249.1:g.2964421T>G, NT_167246.2:g.2970886T>G, NT_167246.1:g.2976506T>G, NT_167247.2:g.3007711T>G, NT_167247.1:g.3013296T>G, XM_011514909.2:c.-1015A>C, XM_011514910.2:c.-1012A>C, XM_006715204.2:c.-1007A>C, XM_047419350.1:c.-1010A>C, NM_001199238.1:c.-531A>C, NM_001199239.1:c.-528A>C

Select item 148249821111.

rs1482498211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31661741 (GRCh38)
6:31629518 (GRCh37)
Canonical SPDI:: NC_000006.12:31661740:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31661741C>T, NC_000006.11:g.31629518C>T, NT_113891.3:g.3139031C>T, NT_113891.2:g.3139137C>T, NT_167248.2:g.2917565C>T, NT_167248.1:g.2923161C>T, NT_167245.2:g.2909512C>T, NT_167245.1:g.2915097C>T, NT_167249.2:g.2961024C>T, NT_167249.1:g.2960322C>T, NT_167246.2:g.2966788C>T, NT_167246.1:g.2972408C>T, NT_167247.2:g.3003613C>T, NT_167247.1:g.3009198C>T, XM_005249403.4:c.*525G>A, NM_033177.4:c.*525G>A, NM_033177.3:c.*525G>A, XM_011514909.2:c.*525G>A, XM_011514910.2:c.*525G>A, XM_006715204.2:c.*525G>A, XM_024446549.2:c.*525G>A, XM_047419350.1:c.*525G>A, NM_001199238.1:c.*525G>A, NM_001199239.1:c.*525G>A, NM_001199240.1:c.*525G>A, XM_047419351.1:c.*525G>A, NM_001199237.1:c.*525G>A

Select item 148143767112.

rs1481437671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31663923 (GRCh38)
6:31631700 (GRCh37)
Canonical SPDI:: NC_000006.12:31663922:C:T
Gene:: GPANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31663923C>T, NC_000006.11:g.31631700C>T, NT_113891.3:g.3141214C>T, NT_113891.2:g.3141320C>T, NT_167248.2:g.2919747C>T, NT_167248.1:g.2925343C>T, NT_167245.2:g.2911694C>T, NT_167245.1:g.2917279C>T, NT_167249.2:g.2963207C>T, NT_167249.1:g.2962505C>T, NT_167246.2:g.2968970C>T, NT_167246.1:g.2974590C>T, NT_167247.2:g.3005795C>T, NT_167247.1:g.3011380C>T, XM_005249403.4:c.556G>A, XM_005249403.3:c.556G>A, XM_005249403.2:c.556G>A, XM_005249403.1:c.556G>A, NM_033177.4:c.556G>A, NM_033177.3:c.556G>A, XM_011514909.2:c.556G>A, XM_011514909.1:c.556G>A, XM_011514910.2:c.556G>A, XM_011514910.1:c.556G>A, XM_024446549.2:c.556G>A, XM_024446549.1:c.556G>A, XM_047419350.1:c.556G>A, NM_001199237.1:c.556G>A, NM_001199238.1:c.556G>A, NM_001199239.1:c.556G>A, NM_001199240.1:c.556G>A, XM_047419351.1:c.556G>A, XM_006715204.2:c.556G>A, XM_006715204.1:c.556G>A, XP_005249460.1:p.Glu186Lys, NP_149417.1:p.Glu186Lys, XP_011513211.1:p.Glu186Lys, XP_011513212.1:p.Glu186Lys, XP_024302317.1:p.Glu186Lys, XP_047275306.1:p.Glu186Lys, NP_001186166.1:p.Glu186Lys, NP_001186167.1:p.Glu186Lys, NP_001186168.1:p.Glu186Lys, NP_001186169.1:p.Glu186Lys, XP_047275307.1:p.Glu186Lys, XP_006715267.1:p.Glu186Lys

Select item 148071088213.

rs1480710882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31663874 (GRCh38)
6:31631651 (GRCh37)
Canonical SPDI:: NC_000006.12:31663873:T:A
Gene:: GPANK1 (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)
HGVS:: NC_000006.12:g.31663874T>A, NC_000006.11:g.31631651T>A, NT_113891.3:g.3141165T>A, NT_113891.2:g.3141271T>A, NT_167248.2:g.2919698T>A, NT_167248.1:g.2925294T>A, NT_167245.2:g.2911645T>A, NT_167245.1:g.2917230T>A, NT_167249.2:g.2963158T>A, NT_167249.1:g.2962456T>A, NT_167246.2:g.2968921T>A, NT_167246.1:g.2974541T>A, NT_167247.2:g.3005746T>A, NT_167247.1:g.3011331T>A, XM_005249403.4:c.605A>T, XM_005249403.3:c.605A>T, XM_005249403.2:c.605A>T, XM_005249403.1:c.605A>T, NM_033177.4:c.605A>T, NM_033177.3:c.605A>T, XM_011514909.2:c.605A>T, XM_011514909.1:c.605A>T, XM_011514910.2:c.605A>T, XM_011514910.1:c.605A>T, XM_024446549.2:c.605A>T, XM_024446549.1:c.605A>T, XM_047419350.1:c.605A>T, NM_001199237.1:c.605A>T, NM_001199238.1:c.605A>T, NM_001199239.1:c.605A>T, NM_001199240.1:c.605A>T, XM_047419351.1:c.605A>T, XM_006715204.2:c.605A>T, XM_006715204.1:c.605A>T, XP_005249460.1:p.Glu202Val, NP_149417.1:p.Glu202Val, XP_011513211.1:p.Glu202Val, XP_011513212.1:p.Glu202Val, XP_024302317.1:p.Glu202Val, XP_047275306.1:p.Glu202Val, NP_001186166.1:p.Glu202Val, NP_001186167.1:p.Glu202Val, NP_001186168.1:p.Glu202Val, NP_001186169.1:p.Glu202Val, XP_047275307.1:p.Glu202Val, XP_006715267.1:p.Glu202Val

Select item 147722940014.

rs1477229400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31665756 (GRCh38)
6:31633533 (GRCh37)
Canonical SPDI:: NC_000006.12:31665755:A:G
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31665756A>G, NC_000006.11:g.31633533A>G, NT_113891.3:g.3143047A>G, NT_113891.2:g.3143153A>G, NT_167248.2:g.2921580A>G, NT_167248.1:g.2927176A>G, NT_167245.2:g.2913527A>G, NT_167245.1:g.2919112A>G, NT_167249.2:g.2965040A>G, NT_167249.1:g.2964338A>G, NT_167246.2:g.2970803A>G, NT_167246.1:g.2976423A>G, NT_167247.2:g.3007628A>G, NT_167247.1:g.3013213A>G, XM_011514909.2:c.-932T>C, XM_011514910.2:c.-929T>C, XM_006715204.2:c.-924T>C, XM_047419350.1:c.-927T>C, NM_001199238.1:c.-448T>C, NM_001199239.1:c.-445T>C

Select item 147571473515.

rs1475714735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:31661648 (GRCh38)
6:31629425 (GRCh37)
Canonical SPDI:: NC_000006.12:31661647:C:A,NC_000006.12:31661647:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31661648C>A, NC_000006.12:g.31661648C>T, NC_000006.11:g.31629425C>A, NC_000006.11:g.31629425C>T, NT_113891.3:g.3138938C>A, NT_113891.3:g.3138938C>T, NT_113891.2:g.3139044C>A, NT_113891.2:g.3139044C>T, NT_167248.2:g.2917471C>A, NT_167248.2:g.2917471C>T, NT_167248.1:g.2923067C>A, NT_167248.1:g.2923067C>T, NT_167245.2:g.2909419C>A, NT_167245.2:g.2909419C>T, NT_167245.1:g.2915004C>A, NT_167245.1:g.2915004C>T, NT_167249.2:g.2960930C>A, NT_167249.2:g.2960930C>T, NT_167249.1:g.2960228C>A, NT_167249.1:g.2960228C>T, NT_167246.2:g.2966695C>A, NT_167246.2:g.2966695C>T, NT_167246.1:g.2972315C>A, NT_167246.1:g.2972315C>T, NT_167247.2:g.3003520C>A, NT_167247.2:g.3003520C>T, NT_167247.1:g.3009105C>A, NT_167247.1:g.3009105C>T, XM_005249403.4:c.*618G>T, XM_005249403.4:c.*618G>A, NM_033177.4:c.*618G>T, NM_033177.4:c.*618G>A, NM_033177.3:c.*618G>T, NM_033177.3:c.*618G>A, XM_011514909.2:c.*618G>T, XM_011514909.2:c.*618G>A, XM_011514910.2:c.*618G>T, XM_011514910.2:c.*618G>A, XM_024446549.2:c.*618G>T, XM_024446549.2:c.*618G>A, XM_047419350.1:c.*618G>T, XM_047419350.1:c.*618G>A, NM_001199237.1:c.*618G>T, NM_001199237.1:c.*618G>A, NM_001199238.1:c.*618G>T, NM_001199238.1:c.*618G>A, NM_001199239.1:c.*618G>T, NM_001199239.1:c.*618G>A, NM_001199240.1:c.*618G>T, NM_001199240.1:c.*618G>A, XM_047419351.1:c.*618G>T, XM_047419351.1:c.*618G>A, XM_006715204.2:c.*618G>T, XM_006715204.2:c.*618G>A

Select item 147483943916.

rs1474839439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31661422 (GRCh38)
6:31629199 (GRCh37)
Canonical SPDI:: NC_000006.12:31661421:C:G,NC_000006.12:31661421:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.31661422C>G, NC_000006.12:g.31661422C>T, NC_000006.11:g.31629199C>G, NC_000006.11:g.31629199C>T, NT_113891.3:g.3138712C>G, NT_113891.3:g.3138712C>T, NT_113891.2:g.3138818C>G, NT_113891.2:g.3138818C>T, NT_167248.2:g.2917245C>G, NT_167248.2:g.2917245C>T, NT_167248.1:g.2922841C>G, NT_167248.1:g.2922841C>T, NT_167245.2:g.2909193C>G, NT_167245.2:g.2909193C>T, NT_167245.1:g.2914778C>G, NT_167245.1:g.2914778C>T, NT_167249.2:g.2960704C>G, NT_167249.2:g.2960704C>T, NT_167249.1:g.2960002C>G, NT_167249.1:g.2960002C>T, NT_167246.2:g.2966469C>G, NT_167246.2:g.2966469C>T, NT_167246.1:g.2972089C>G, NT_167246.1:g.2972089C>T, NT_167247.2:g.3003294C>G, NT_167247.2:g.3003294C>T, NT_167247.1:g.3008879C>G, NT_167247.1:g.3008879C>T, XM_005249403.4:c.*844G>C, XM_005249403.4:c.*844G>A, NM_033177.4:c.*844G>C, NM_033177.4:c.*844G>A, NM_033177.3:c.*844G>C, NM_033177.3:c.*844G>A, XM_011514909.2:c.*844G>C, XM_011514909.2:c.*844G>A, XM_011514910.2:c.*844G>C, XM_011514910.2:c.*844G>A, XM_024446549.2:c.*844G>C, XM_024446549.2:c.*844G>A, XM_047419350.1:c.*844G>C, XM_047419350.1:c.*844G>A, NM_001199237.1:c.*844G>C, NM_001199237.1:c.*844G>A, NM_001199238.1:c.*844G>C, NM_001199238.1:c.*844G>A, NM_001199239.1:c.*844G>C, NM_001199239.1:c.*844G>A, NM_001199240.1:c.*844G>C, NM_001199240.1:c.*844G>A, XM_047419351.1:c.*844G>C, XM_047419351.1:c.*844G>A, XM_006715204.2:c.*844G>C, XM_006715204.2:c.*844G>A

Select item 147215201717.

rs1472152017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31665669 (GRCh38)
6:31633446 (GRCh37)
Canonical SPDI:: NC_000006.12:31665668:G:A
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31665669G>A, NC_000006.11:g.31633446G>A, NT_113891.3:g.3142960G>A, NT_113891.2:g.3143066G>A, NT_167248.2:g.2921493G>A, NT_167248.1:g.2927089G>A, NT_167245.2:g.2913440G>A, NT_167245.1:g.2919025G>A, NT_167249.2:g.2964953G>A, NT_167249.1:g.2964251G>A, NT_167246.2:g.2970716G>A, NT_167246.1:g.2976336G>A, NT_167247.2:g.3007541G>A, NT_167247.1:g.3013126G>A, XM_011514909.2:c.-845C>T, XM_011514910.2:c.-842C>T, XM_006715204.2:c.-837C>T, XM_047419350.1:c.-840C>T, NM_001199238.1:c.-361C>T, NM_001199239.1:c.-358C>T

Select item 147147478718.

rs1471474787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31661467 (GRCh38)
6:31629244 (GRCh37)
Canonical SPDI:: NC_000006.12:31661466:G:A
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.31661467G>A, NC_000006.11:g.31629244G>A, NT_113891.3:g.3138757G>A, NT_113891.2:g.3138863G>A, NT_167248.2:g.2917290G>A, NT_167248.1:g.2922886G>A, NT_167245.2:g.2909238G>A, NT_167245.1:g.2914823G>A, NT_167249.2:g.2960749G>A, NT_167249.1:g.2960047G>A, NT_167246.2:g.2966514G>A, NT_167246.1:g.2972134G>A, NT_167247.2:g.3003339G>A, NT_167247.1:g.3008924G>A, XM_005249403.4:c.*799C>T, NM_033177.4:c.*799C>T, NM_033177.3:c.*799C>T, XM_011514909.2:c.*799C>T, XM_011514910.2:c.*799C>T, XM_024446549.2:c.*799C>T, XM_047419350.1:c.*799C>T, NM_001199237.1:c.*799C>T, NM_001199238.1:c.*799C>T, NM_001199239.1:c.*799C>T, NM_001199240.1:c.*799C>T, XM_047419351.1:c.*799C>T, XM_006715204.2:c.*799C>T

Select item 146985670419.

rs1469856704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31662386 (GRCh38)
6:31630163 (GRCh37)
Canonical SPDI:: NC_000006.12:31662385:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31662386C>T, NC_000006.11:g.31630163C>T, NT_113891.3:g.3139676C>T, NT_113891.2:g.3139782C>T, NT_167248.2:g.2918209C>T, NT_167248.1:g.2923805C>T, NT_167245.2:g.2910157C>T, NT_167245.1:g.2915742C>T, NT_167249.2:g.2961668C>T, NT_167249.1:g.2960966C>T, NT_167246.2:g.2967433C>T, NT_167246.1:g.2973053C>T, NT_167247.2:g.3004258C>T, NT_167247.1:g.3009843C>T, XM_005249403.4:c.951G>A, XM_005249403.3:c.951G>A, XM_005249403.2:c.951G>A, XM_005249403.1:c.951G>A, NM_033177.4:c.951G>A, NM_033177.3:c.951G>A, XM_011514909.2:c.951G>A, XM_011514909.1:c.951G>A, XM_011514910.2:c.951G>A, XM_011514910.1:c.951G>A, XM_024446549.2:c.951G>A, XM_024446549.1:c.951G>A, XM_047419350.1:c.951G>A, NM_001199237.1:c.951G>A, NM_001199238.1:c.951G>A, NM_001199239.1:c.951G>A, NM_001199240.1:c.951G>A, XM_047419351.1:c.951G>A, XM_006715204.2:c.951G>A, XM_006715204.1:c.951G>A

Select item 146968207320.

rs1469682073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31664162 (GRCh38)
6:31631939 (GRCh37)
Canonical SPDI:: NC_000006.12:31664161:T:C
Gene:: CSNK2B (Varview), GPANK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31664162T>C, NC_000006.11:g.31631939T>C, NT_113891.3:g.3141453T>C, NT_113891.2:g.3141559T>C, NT_167248.2:g.2919986T>C, NT_167248.1:g.2925582T>C, NT_167245.2:g.2911933T>C, NT_167245.1:g.2917518T>C, NT_167249.2:g.2963446T>C, NT_167249.1:g.2962744T>C, NT_167246.2:g.2969209T>C, NT_167246.1:g.2974829T>C, NT_167247.2:g.3006034T>C, NT_167247.1:g.3011619T>C, XM_005249403.4:c.317A>G, XM_005249403.3:c.317A>G, XM_005249403.2:c.317A>G, XM_005249403.1:c.317A>G, NM_033177.4:c.317A>G, NM_033177.3:c.317A>G, XM_011514909.2:c.317A>G, XM_011514909.1:c.317A>G, XM_011514910.2:c.317A>G, XM_011514910.1:c.317A>G, XM_006715204.2:c.317A>G, XM_006715204.1:c.317A>G, XM_024446549.2:c.317A>G, XM_024446549.1:c.317A>G, XM_047419350.1:c.317A>G, NM_001199238.1:c.317A>G, NM_001199239.1:c.317A>G, NM_001199240.1:c.317A>G, XM_047419351.1:c.317A>G, NM_001199237.1:c.317A>G, XP_005249460.1:p.His106Arg, NP_149417.1:p.His106Arg, XP_011513211.1:p.His106Arg, XP_011513212.1:p.His106Arg, XP_006715267.1:p.His106Arg, XP_024302317.1:p.His106Arg, XP_047275306.1:p.His106Arg, NP_001186167.1:p.His106Arg, NP_001186168.1:p.His106Arg, NP_001186169.1:p.His106Arg, XP_047275307.1:p.His106Arg, NP_001186166.1:p.His106Arg

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