SNP Links for Gene (Select 730249) - SNP

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Select item 14913524801.

rs1491352480 has merged into rs34230053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:76955137 (GRCh38)
13:77529272 (GRCh37)
Canonical SPDI:: NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:76955126:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAA=0.0214/107 (1000Genomes)
HGVS:: NC_000013.11:g.76955137_76955152del, NC_000013.11:g.76955138_76955152del, NC_000013.11:g.76955139_76955152del, NC_000013.11:g.76955140_76955152del, NC_000013.11:g.76955141_76955152del, NC_000013.11:g.76955142_76955152del, NC_000013.11:g.76955143_76955152del, NC_000013.11:g.76955144_76955152del, NC_000013.11:g.76955145_76955152del, NC_000013.11:g.76955146_76955152del, NC_000013.11:g.76955147_76955152del, NC_000013.11:g.76955148_76955152del, NC_000013.11:g.76955149_76955152del, NC_000013.11:g.76955150_76955152del, NC_000013.11:g.76955151_76955152del, NC_000013.11:g.76955152del, NC_000013.11:g.76955152dup, NC_000013.11:g.76955151_76955152dup, NC_000013.11:g.76955150_76955152dup, NC_000013.11:g.76955149_76955152dup, NC_000013.11:g.76955148_76955152dup, NC_000013.11:g.76955147_76955152dup, NC_000013.11:g.76955146_76955152dup, NC_000013.11:g.76955145_76955152dup, NC_000013.11:g.76955144_76955152dup, NC_000013.11:g.76955143_76955152dup, NC_000013.11:g.76955142_76955152dup, NC_000013.11:g.76955141_76955152dup, NC_000013.11:g.76955140_76955152dup, NC_000013.11:g.76955138_76955152dup, NC_000013.11:g.76955137_76955152dup, NC_000013.11:g.76955136_76955152dup, NC_000013.11:g.76955135_76955152dup, NC_000013.11:g.76955134_76955152dup, NC_000013.11:g.76955152_76955153insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.77529272_77529287del, NC_000013.10:g.77529273_77529287del, NC_000013.10:g.77529274_77529287del, NC_000013.10:g.77529275_77529287del, NC_000013.10:g.77529276_77529287del, NC_000013.10:g.77529277_77529287del, NC_000013.10:g.77529278_77529287del, NC_000013.10:g.77529279_77529287del, NC_000013.10:g.77529280_77529287del, NC_000013.10:g.77529281_77529287del, NC_000013.10:g.77529282_77529287del, NC_000013.10:g.77529283_77529287del, NC_000013.10:g.77529284_77529287del, NC_000013.10:g.77529285_77529287del, NC_000013.10:g.77529286_77529287del, NC_000013.10:g.77529287del, NC_000013.10:g.77529287dup, NC_000013.10:g.77529286_77529287dup, NC_000013.10:g.77529285_77529287dup, NC_000013.10:g.77529284_77529287dup, NC_000013.10:g.77529283_77529287dup, NC_000013.10:g.77529282_77529287dup, NC_000013.10:g.77529281_77529287dup, NC_000013.10:g.77529280_77529287dup, NC_000013.10:g.77529279_77529287dup, NC_000013.10:g.77529278_77529287dup, NC_000013.10:g.77529277_77529287dup, NC_000013.10:g.77529276_77529287dup, NC_000013.10:g.77529275_77529287dup, NC_000013.10:g.77529273_77529287dup, NC_000013.10:g.77529272_77529287dup, NC_000013.10:g.77529271_77529287dup, NC_000013.10:g.77529270_77529287dup, NC_000013.10:g.77529269_77529287dup, NC_000013.10:g.77529287_77529288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912851402.

rs1491285140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 13:76947760 (GRCh38)
13:77521896 (GRCh37)
Canonical SPDI:: NC_000013.11:76947760:TT:TTCTT
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0.00118/14 (ALFA)
TTC=0.00209/111 (GnomAD)
HGVS:: NC_000013.11:g.76947762_76947763insCTT, NC_000013.10:g.77521897_77521898insCTT

Select item 14912402833.

rs1491240283 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:76955126 (GRCh38)
13:77529261 (GRCh37)
Canonical SPDI:: NC_000013.11:76955125:CA:
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00177/21 (ALFA)
-=0.00036/10 (TOMMO)
HGVS:: NC_000013.11:g.76955126_76955127del, NC_000013.10:g.77529261_77529262del

Select item 14911825374.

rs1491182537 has merged into rs368663979 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:76947770 (GRCh38)
13:77521905 (GRCh37)
Canonical SPDI:: NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:76947759:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000013.11:g.76947770_76947781del, NC_000013.11:g.76947771_76947781del, NC_000013.11:g.76947772_76947781del, NC_000013.11:g.76947773_76947781del, NC_000013.11:g.76947774_76947781del, NC_000013.11:g.76947775_76947781del, NC_000013.11:g.76947776_76947781del, NC_000013.11:g.76947777_76947781del, NC_000013.11:g.76947778_76947781del, NC_000013.11:g.76947779_76947781del, NC_000013.11:g.76947780_76947781del, NC_000013.11:g.76947781del, NC_000013.11:g.76947781dup, NC_000013.11:g.76947780_76947781dup, NC_000013.11:g.76947779_76947781dup, NC_000013.11:g.76947778_76947781dup, NC_000013.11:g.76947777_76947781dup, NC_000013.11:g.76947776_76947781dup, NC_000013.11:g.76947775_76947781dup, NC_000013.11:g.76947774_76947781dup, NC_000013.11:g.76947773_76947781dup, NC_000013.11:g.76947772_76947781dup, NC_000013.11:g.76947771_76947781dup, NC_000013.11:g.76947770_76947781dup, NC_000013.11:g.76947768_76947781dup, NC_000013.11:g.76947767_76947781dup, NC_000013.11:g.76947763_76947781dup, NC_000013.11:g.76947761_76947781dup, NC_000013.11:g.76947760_76947781dup, NC_000013.10:g.77521905_77521916del, NC_000013.10:g.77521906_77521916del, NC_000013.10:g.77521907_77521916del, NC_000013.10:g.77521908_77521916del, NC_000013.10:g.77521909_77521916del, NC_000013.10:g.77521910_77521916del, NC_000013.10:g.77521911_77521916del, NC_000013.10:g.77521912_77521916del, NC_000013.10:g.77521913_77521916del, NC_000013.10:g.77521914_77521916del, NC_000013.10:g.77521915_77521916del, NC_000013.10:g.77521916del, NC_000013.10:g.77521916dup, NC_000013.10:g.77521915_77521916dup, NC_000013.10:g.77521914_77521916dup, NC_000013.10:g.77521913_77521916dup, NC_000013.10:g.77521912_77521916dup, NC_000013.10:g.77521911_77521916dup, NC_000013.10:g.77521910_77521916dup, NC_000013.10:g.77521909_77521916dup, NC_000013.10:g.77521908_77521916dup, NC_000013.10:g.77521907_77521916dup, NC_000013.10:g.77521906_77521916dup, NC_000013.10:g.77521905_77521916dup, NC_000013.10:g.77521903_77521916dup, NC_000013.10:g.77521902_77521916dup, NC_000013.10:g.77521898_77521916dup, NC_000013.10:g.77521896_77521916dup, NC_000013.10:g.77521895_77521916dup

Select item 14908582315.

rs1490858231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76948719 (GRCh38)
13:77522854 (GRCh37)
Canonical SPDI:: NC_000013.11:76948718:T:C
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76948719T>C, NC_000013.10:g.77522854T>C

Select item 14907454486.

rs1490745448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:76957966 (GRCh38)
13:77532101 (GRCh37)
Canonical SPDI:: NC_000013.11:76957965:C:A
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.76957966C>A, NC_000013.10:g.77532101C>A, NM_001258406.2:c.1427C>A, NM_001258406.1:c.1427C>A, XM_047430581.1:c.1331C>A, NP_001245335.1:p.Ser476Tyr, XP_047286537.1:p.Ser444Tyr

Select item 14907289587.

rs1490728958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:76956679 (GRCh38)
13:77530814 (GRCh37)
Canonical SPDI:: NC_000013.11:76956678:A:T
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000013.11:g.76956679A>T, NC_000013.10:g.77530814A>T

Select item 14906790598.

rs1490679059 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGATA>- [Show Flanks]
Chromosome:: 13:76957857 (GRCh38)
13:77531992 (GRCh37)
Canonical SPDI:: NC_000013.11:76957853:ATAAAGATA:ATA
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76957857_76957862del, NC_000013.10:g.77531992_77531997del, NM_001258406.2:c.1318_1323del, NM_001258406.1:c.1318_1323del, XM_047430581.1:c.1222_1227del, NP_001245335.1:p.Lys440_Ile441del, XP_047286537.1:p.Lys408_Ile409del

Select item 14905887709.

rs1490588770 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCC [Show Flanks]
Chromosome:: 13:76958497 (GRCh38)
13:77532633 (GRCh37)
Canonical SPDI:: NC_000013.11:76958497:GCCC:GCCCGCCC
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCCCGCCC=0./0 (ALFA)
GCCC=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76958498_76958501dup, NC_000013.10:g.77532633_77532636dup, NM_001258406.2:c.*513_*516dup, NM_001258406.1:c.*513_*516dup, XM_047430581.1:c.*513_*516dup

Select item 149057324810.

rs1490573248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:76957247 (GRCh38)
13:77531382 (GRCh37)
Canonical SPDI:: NC_000013.11:76957246:G:A,NC_000013.11:76957246:G:T
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.76957247G>A, NC_000013.11:g.76957247G>T, NC_000013.10:g.77531382G>A, NC_000013.10:g.77531382G>T, NM_001258406.2:c.708G>A, NM_001258406.2:c.708G>T, NM_001258406.1:c.708G>A, NM_001258406.1:c.708G>T, XM_047430581.1:c.612G>A, XM_047430581.1:c.612G>T, NP_001245335.1:p.Leu236Phe, XP_047286537.1:p.Leu204Phe

Select item 149025307911.

rs1490253079 [Homo sapiens]

Variant type:: DEL
Alleles:: ACT>- [Show Flanks]
Chromosome:: 13:76957381 (GRCh38)
13:77531516 (GRCh37)
Canonical SPDI:: NC_000013.11:76957380:ACT:
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76957381_76957383del, NC_000013.10:g.77531516_77531518del, NM_001258406.2:c.842_844del, NM_001258406.1:c.842_844del, XM_047430581.1:c.746_748del, NP_001245335.1:p.His281_Trp282delinsArg, XP_047286537.1:p.His249_Trp250delinsArg

Select item 148963998412.

rs1489639984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76949164 (GRCh38)
13:77523299 (GRCh37)
Canonical SPDI:: NC_000013.11:76949163:G:A
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.76949164G>A, NC_000013.10:g.77523299G>A

Select item 148963231213.

rs1489632312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:76948205 (GRCh38)
13:77522340 (GRCh37)
Canonical SPDI:: NC_000013.11:76948204:A:G
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.76948205A>G, NC_000013.10:g.77522340A>G

Select item 148942521114.

rs1489425211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76955673 (GRCh38)
13:77529808 (GRCh37)
Canonical SPDI:: NC_000013.11:76955672:C:T
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.76955673C>T, NC_000013.10:g.77529808C>T

Select item 148931058115.

rs1489310581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:76955260 (GRCh38)
13:77529395 (GRCh37)
Canonical SPDI:: NC_000013.11:76955259:G:C
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76955260G>C, NC_000013.10:g.77529395G>C

Select item 148920545416.

rs1489205454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 13:76950506 (GRCh38)
13:77524641 (GRCh37)
Canonical SPDI:: NC_000013.11:76950505:T:A,NC_000013.11:76950505:T:C,NC_000013.11:76950505:T:G
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.76950506T>A, NC_000013.11:g.76950506T>C, NC_000013.11:g.76950506T>G, NC_000013.10:g.77524641T>A, NC_000013.10:g.77524641T>C, NC_000013.10:g.77524641T>G

Select item 148913453817.

rs1489134538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76951687 (GRCh38)
13:77525822 (GRCh37)
Canonical SPDI:: NC_000013.11:76951686:C:T
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.76951687C>T, NC_000013.10:g.77525822C>T

Select item 148908423318.

rs1489084233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:76958776 (GRCh38)
13:77532911 (GRCh37)
Canonical SPDI:: NC_000013.11:76958775:G:T
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76958776G>T, NC_000013.10:g.77532911G>T

Select item 148897921719.

rs1488979217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:76956074 (GRCh38)
13:77530209 (GRCh37)
Canonical SPDI:: NC_000013.11:76956073:T:A
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.76956074T>A, NC_000013.10:g.77530209T>A

Select item 148887885920.

rs1488878859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:76951210 (GRCh38)
13:77525345 (GRCh37)
Canonical SPDI:: NC_000013.11:76951209:T:A
Gene:: ACOD1 (Varview), LOC105370269 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76951210T>A, NC_000013.10:g.77525345T>A

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