SNP Links for Gene (Select 57827) - SNP

Links from Gene

Items: 1 to 20 of 1336

<< First< Prev

Page of 67

Next >Last >>

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 14907142542.

rs1490714254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31658756 (GRCh38)
6:31626533 (GRCh37)
Canonical SPDI:: NC_000006.12:31658755:A:C
Gene:: C6orf47 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.0006/17 (TOMMO)
C=0.04349/127 (KOREAN)
HGVS:: NC_000006.12:g.31658756A>C, NC_000006.11:g.31626533A>C, NT_113891.3:g.3136045A>C, NT_113891.2:g.3136151A>C, NT_167248.2:g.2914574A>C, NT_167248.1:g.2920170A>C, NT_167245.2:g.2906527A>C, NT_167245.1:g.2912112A>C, NT_167249.2:g.2958033A>C, NT_167249.1:g.2957331A>C, NT_167246.2:g.2963802A>C, NT_167246.1:g.2969422A>C, NT_167247.2:g.3000628A>C, NT_167247.1:g.3006213A>C, NM_021184.4:c.*307T>G, NM_021184.3:c.*307T>G

Select item 14904616673.

rs1490461667 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 6:31659096 (GRCh38)
6:31626873 (GRCh37)
Canonical SPDI:: NC_000006.12:31659092:CTCCTC:CTC
Gene:: C6orf47 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31659093CTC[1], NC_000006.11:g.31626870CTC[1], NT_113891.3:g.3136383CTC[1], NT_113891.2:g.3136489CTC[1], NT_167248.2:g.2914911CTC[1], NT_167248.1:g.2920507CTC[1], NT_167245.2:g.2906864CTC[1], NT_167245.1:g.2912449CTC[1], NT_167249.2:g.2958370CTC[1], NT_167249.1:g.2957668CTC[1], NT_167246.2:g.2964140CTC[1], NT_167246.1:g.2969760CTC[1], NT_167247.2:g.3000965CTC[1], NT_167247.1:g.3006550CTC[1], NM_021184.4:c.850GAG[1], NM_021184.3:c.850GAG[1], NP_067007.3:p.Glu285del

Select item 14896394354.

rs1489639435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31657988 (GRCh38)
6:31625765 (GRCh37)
Canonical SPDI:: NC_000006.12:31657987:C:G
Gene:: APOM (Varview), C6orf47 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31657988C>G, NC_000006.11:g.31625765C>G, NT_113891.3:g.3135277C>G, NT_113891.2:g.3135383C>G, NT_167248.2:g.2913806C>G, NT_167248.1:g.2919402C>G, NT_167245.2:g.2905759C>G, NT_167245.1:g.2911344C>G, NT_167249.2:g.2957265C>G, NT_167249.1:g.2956563C>G, NT_167246.2:g.2963034C>G, NT_167246.1:g.2968654C>G, NT_167247.2:g.2999860C>G, NT_167247.1:g.3005445C>G

Select item 14882713595.

rs1488271359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31659033 (GRCh38)
6:31626810 (GRCh37)
Canonical SPDI:: NC_000006.12:31659032:C:A
Gene:: C6orf47 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31659033C>A, NC_000006.11:g.31626810C>A, NT_113891.3:g.3136323C>A, NT_113891.2:g.3136429C>A, NT_167248.2:g.2914851C>A, NT_167248.1:g.2920447C>A, NT_167245.2:g.2906804C>A, NT_167245.1:g.2912389C>A, NT_167249.2:g.2958310C>A, NT_167249.1:g.2957608C>A, NT_167246.2:g.2964080C>A, NT_167246.1:g.2969700C>A, NT_167247.2:g.3000905C>A, NT_167247.1:g.3006490C>A, NM_021184.4:c.*30G>T, NM_021184.3:c.*30G>T

Select item 14876782786.

rs1487678278 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:31659358 (GRCh38)
6:31627136 (GRCh37)
Canonical SPDI:: NC_000006.12:31659358:GGG:GGGG
Gene:: C6orf47 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31659361dup, NC_000006.11:g.31627138dup, NT_113891.3:g.3136651dup, NT_113891.2:g.3136757dup, NT_167248.2:g.2915179dup, NT_167248.1:g.2920775dup, NT_167245.2:g.2907132dup, NT_167245.1:g.2912717dup, NT_167249.2:g.2958638dup, NT_167249.1:g.2957936dup, NT_167246.2:g.2964408dup, NT_167246.1:g.2970028dup, NT_167247.2:g.3001233dup, NT_167247.1:g.3006818dup, NM_021184.4:c.589dup, NM_021184.3:c.589dup, NP_067007.3:p.Leu197fs

Select item 14872594347.

rs1487259434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:31661225 (GRCh38)
6:31629002 (GRCh37)
Canonical SPDI:: NC_000006.12:31661224:A:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31661225A>T, NC_000006.11:g.31629002A>T, NT_113891.3:g.3138515A>T, NT_113891.2:g.3138621A>T, NT_167248.2:g.2917043A>T, NT_167248.1:g.2922639A>T, NT_167245.2:g.2908996A>T, NT_167245.1:g.2914581A>T, NT_167249.2:g.2960502A>T, NT_167249.1:g.2959800A>T, NT_167246.2:g.2966272A>T, NT_167246.1:g.2971892A>T, NT_167247.2:g.3003097A>T, NT_167247.1:g.3008682A>T

Select item 14871473708.

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 14869394709.

rs1486939470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31660867 (GRCh38)
6:31628644 (GRCh37)
Canonical SPDI:: NC_000006.12:31660866:C:G,NC_000006.12:31660866:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.31660867C>G, NC_000006.12:g.31660867C>T, NC_000006.11:g.31628644C>G, NC_000006.11:g.31628644C>T, NT_113891.3:g.3138157C>G, NT_113891.3:g.3138157C>T, NT_113891.2:g.3138263C>G, NT_113891.2:g.3138263C>T, NT_167248.2:g.2916685C>G, NT_167248.2:g.2916685C>T, NT_167248.1:g.2922281C>G, NT_167248.1:g.2922281C>T, NT_167245.2:g.2908638C>G, NT_167245.2:g.2908638C>T, NT_167245.1:g.2914223C>G, NT_167245.1:g.2914223C>T, NT_167249.2:g.2960144C>G, NT_167249.2:g.2960144C>T, NT_167249.1:g.2959442C>G, NT_167249.1:g.2959442C>T, NT_167246.2:g.2965914C>G, NT_167246.2:g.2965914C>T, NT_167246.1:g.2971534C>G, NT_167246.1:g.2971534C>T, NT_167247.2:g.3002739C>G, NT_167247.2:g.3002739C>T, NT_167247.1:g.3008324C>G, NT_167247.1:g.3008324C>T

Select item 148680007710.

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 148658609011.

rs1486586090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31661158 (GRCh38)
6:31628935 (GRCh37)
Canonical SPDI:: NC_000006.12:31661157:C:T
Gene:: GPANK1 (Varview), C6orf47 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_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.31661158C>T, NC_000006.11:g.31628935C>T, NT_113891.3:g.3138448C>T, NT_113891.2:g.3138554C>T, NT_167248.2:g.2916976C>T, NT_167248.1:g.2922572C>T, NT_167245.2:g.2908929C>T, NT_167245.1:g.2914514C>T, NT_167249.2:g.2960435C>T, NT_167249.1:g.2959733C>T, NT_167246.2:g.2966205C>T, NT_167246.1:g.2971825C>T, NT_167247.2:g.3003030C>T, NT_167247.1:g.3008615C>T

Select item 148530434312.

rs1485304343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31660570 (GRCh38)
6:31628347 (GRCh37)
Canonical SPDI:: NC_000006.12:31660569:C:G
Gene:: C6orf47 (Varview)
Functional Consequence:: 5_prime_UTR_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.31660570C>G, NC_000006.11:g.31628347C>G, NT_113891.3:g.3137860C>G, NT_113891.2:g.3137966C>G, NT_167248.2:g.2916388C>G, NT_167248.1:g.2921984C>G, NT_167245.2:g.2908341C>G, NT_167245.1:g.2913926C>G, NT_167249.2:g.2959847C>G, NT_167249.1:g.2959145C>G, NT_167246.2:g.2965617C>G, NT_167246.1:g.2971237C>G, NT_167247.2:g.3002442C>G, NT_167247.1:g.3008027C>G, NM_021184.4:c.-623G>C, NM_021184.3:c.-623G>C

Select item 148518706513.

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 148446326814.

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 148425385515.

rs1484253855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31660128 (GRCh38)
6:31627905 (GRCh37)
Canonical SPDI:: NC_000006.12:31660127:G:A
Gene:: C6orf47 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.31660128G>A, NC_000006.11:g.31627905G>A, NG_078060.1:g.237G>A, NT_113891.3:g.3137418G>A, NT_113891.2:g.3137524G>A, NT_167249.2:g.2959405G>A, NT_167249.1:g.2958703G>A, NT_167248.2:g.2915946G>A, NT_167248.1:g.2921542G>A, NT_167247.2:g.3002000G>A, NT_167247.1:g.3007585G>A, NT_167246.2:g.2965175G>A, NT_167246.1:g.2970795G>A, NT_167245.2:g.2907899G>A, NT_167245.1:g.2913484G>A, NM_021184.4:c.-181C>T, NM_021184.3:c.-181C>T

Select item 148307743416.

rs1483077434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31658605 (GRCh38)
6:31626382 (GRCh37)
Canonical SPDI:: NC_000006.12:31658604:A:C
Gene:: APOM (Varview), C6orf47 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.31658605A>C, NC_000006.11:g.31626382A>C, NT_113891.3:g.3135894A>C, NT_113891.2:g.3136000A>C, NT_167248.2:g.2914423A>C, NT_167248.1:g.2920019A>C, NT_167245.2:g.2906376A>C, NT_167245.1:g.2911961A>C, NT_167249.2:g.2957882A>C, NT_167249.1:g.2957180A>C, NT_167246.2:g.2963651A>C, NT_167246.1:g.2969271A>C, NT_167247.2:g.3000477A>C, NT_167247.1:g.3006062A>C, NM_021184.4:c.*458T>G, NM_021184.3:c.*458T>G

Select item 148280503317.

rs1482805033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31659110 (GRCh38)
6:31626887 (GRCh37)
Canonical SPDI:: NC_000006.12:31659109:C:G
Gene:: C6orf47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.31659110C>G, NC_000006.11:g.31626887C>G, NT_113891.3:g.3136400C>G, NT_113891.2:g.3136506C>G, NT_167248.2:g.2914928C>G, NT_167248.1:g.2920524C>G, NT_167245.2:g.2906881C>G, NT_167245.1:g.2912466C>G, NT_167249.2:g.2958387C>G, NT_167249.1:g.2957685C>G, NT_167246.2:g.2964157C>G, NT_167246.1:g.2969777C>G, NT_167247.2:g.3000982C>G, NT_167247.1:g.3006567C>G, NM_021184.4:c.838G>C, NM_021184.3:c.838G>C, NP_067007.3:p.Glu280Gln

Select item 148275108518.

rs1482751085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31658028 (GRCh38)
6:31625805 (GRCh37)
Canonical SPDI:: NC_000006.12:31658027:C:A
Gene:: APOM (Varview), C6orf47 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31658028C>A, NC_000006.11:g.31625805C>A, NT_113891.3:g.3135317C>A, NT_113891.2:g.3135423C>A, NT_167248.2:g.2913846C>A, NT_167248.1:g.2919442C>A, NT_167245.2:g.2905799C>A, NT_167245.1:g.2911384C>A, NT_167249.2:g.2957305C>A, NT_167249.1:g.2956603C>A, NT_167246.2:g.2963074C>A, NT_167246.1:g.2968694C>A, NT_167247.2:g.2999900C>A, NT_167247.1:g.3005485C>A

Select item 148249821119.

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 148229482020.

rs1482294820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31659021 (GRCh38)
6:31626798 (GRCh37)
Canonical SPDI:: NC_000006.12:31659020:C:T
Gene:: C6orf47 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31659021C>T, NC_000006.11:g.31626798C>T, NT_113891.3:g.3136311C>T, NT_113891.2:g.3136417C>T, NT_167248.2:g.2914839C>T, NT_167248.1:g.2920435C>T, NT_167245.2:g.2906792C>T, NT_167245.1:g.2912377C>T, NT_167249.2:g.2958298C>T, NT_167249.1:g.2957596C>T, NT_167246.2:g.2964068C>T, NT_167246.1:g.2969688C>T, NT_167247.2:g.3000893C>T, NT_167247.1:g.3006478C>T, NM_021184.4:c.*42G>A, NM_021184.3:c.*42G>A

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1336

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity