SNP Links for Gene (Select 2182) - SNP

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Select item 14915226001.

rs1491522600 has merged into rs34210031 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: X:109669409 (GRCh38)
X:108912638 (GRCh37)
Canonical SPDI:: NC_000023.11:109669394:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:109669394:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:109669394:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:109669394:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:109669394:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3759/1419 (1000Genomes)
-=0.4264/1232 (ALSPAC)
-=0.4302/1595 (TWINSUK)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.109669409_109669411del, NC_000023.11:g.109669410_109669411del, NC_000023.11:g.109669411del, NC_000023.11:g.109669411dup, NC_000023.11:g.109669410_109669411dup, NC_000023.10:g.108912638_108912640del, NC_000023.10:g.108912639_108912640del, NC_000023.10:g.108912640del, NC_000023.10:g.108912640dup, NC_000023.10:g.108912639_108912640dup, NG_008053.1:g.68996_68998del, NG_008053.1:g.68997_68998del, NG_008053.1:g.68998del, NG_008053.1:g.68998dup, NG_008053.1:g.68997_68998dup

Select item 14914519622.

rs1491451962 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:109701219 (GRCh38)
X:108944448 (GRCh37)
Canonical SPDI:: NC_000023.11:109701218:AT:
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.109701219_109701220del, NC_000023.10:g.108944448_108944449del, NG_008053.1:g.37173_37174del

Select item 14914023113.

rs1491402311 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: X:109690759 (GRCh38)
X:108933989 (GRCh37)
Canonical SPDI:: NC_000023.11:109690759::A,NC_000023.11:109690759::C,NC_000023.11:109690759::T
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.109690759_109690760insA, NC_000023.11:g.109690759_109690760insC, NC_000023.11:g.109690759_109690760insT, NC_000023.10:g.108933988_108933989insA, NC_000023.10:g.108933988_108933989insC, NC_000023.10:g.108933988_108933989insT, NG_008053.1:g.47633_47634insT, NG_008053.1:g.47633_47634insG, NG_008053.1:g.47633_47634insA

Select item 14912534754.

rs1491253475 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:109690758 (GRCh38)
X:108933987 (GRCh37)
Canonical SPDI:: NC_000023.11:109690757:AG:
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000023.11:g.109690758_109690759del, NC_000023.10:g.108933987_108933988del, NG_008053.1:g.47634_47635del

Select item 14912076845.

rs1491207684 has merged into rs377016860 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: X:109690768 (GRCh38)
X:108933997 (GRCh37)
Canonical SPDI:: NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.000759/201 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000023.11:g.109690768_109690769del, NC_000023.11:g.109690769del, NC_000023.11:g.109690769dup, NC_000023.11:g.109690768_109690769dup, NC_000023.11:g.109690767_109690769dup, NC_000023.10:g.108933997_108933998del, NC_000023.10:g.108933998del, NC_000023.10:g.108933998dup, NC_000023.10:g.108933997_108933998dup, NC_000023.10:g.108933996_108933998dup, NG_008053.1:g.47633_47634del, NG_008053.1:g.47634del, NG_008053.1:g.47634dup, NG_008053.1:g.47633_47634dup, NG_008053.1:g.47632_47634dup

Select item 14911807376.

rs1491180737 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:109669394 (GRCh38)
X:108912623 (GRCh37)
Canonical SPDI:: NC_000023.11:109669393:AT:
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.109669394_109669395del, NC_000023.10:g.108912623_108912624del, NG_008053.1:g.68998_68999del

Select item 14911731167.

rs1491173116 has merged into rs377016860 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: X:109690768 (GRCh38)
X:108933997 (GRCh37)
Canonical SPDI:: NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000023.11:109690758:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.000759/201 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000023.11:g.109690768_109690769del, NC_000023.11:g.109690769del, NC_000023.11:g.109690769dup, NC_000023.11:g.109690768_109690769dup, NC_000023.11:g.109690767_109690769dup, NC_000023.10:g.108933997_108933998del, NC_000023.10:g.108933998del, NC_000023.10:g.108933998dup, NC_000023.10:g.108933997_108933998dup, NC_000023.10:g.108933996_108933998dup, NG_008053.1:g.47633_47634del, NG_008053.1:g.47634del, NG_008053.1:g.47634dup, NG_008053.1:g.47633_47634dup, NG_008053.1:g.47632_47634dup

Select item 14910028368.

rs1491002836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:109683388 (GRCh38)
X:108926617 (GRCh37)
Canonical SPDI:: NC_000023.11:109683387:A:C
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.109683388A>C, NC_000023.10:g.108926617A>C, NG_008053.1:g.55005T>G, NM_022977.3:c.99T>G, NM_022977.2:c.99T>G, NM_001318509.2:c.99T>G, NM_001318509.1:c.99T>G, XM_005262109.3:c.99T>G, XM_005262109.2:c.99T>G, XM_005262109.1:c.99T>G, XM_011530888.3:c.99T>G, XM_011530888.2:c.99T>G, XM_011530888.1:c.99T>G, XM_011530889.3:c.99T>G, XM_011530889.2:c.99T>G, XM_011530889.1:c.99T>G, XM_047441918.1:c.-25T>G

Select item 14909224099.

rs1490922409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:109673573 (GRCh38)
X:108916802 (GRCh37)
Canonical SPDI:: NC_000023.11:109673572:T:G
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109673573T>G, NC_000023.10:g.108916802T>G, NG_008053.1:g.64820A>C

Select item 149090182410.

rs1490901824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:109676381 (GRCh38)
X:108919610 (GRCh37)
Canonical SPDI:: NC_000023.11:109676380:C:A,NC_000023.11:109676380:C:G,NC_000023.11:109676380:C:T
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109676381C>A, NC_000023.11:g.109676381C>G, NC_000023.11:g.109676381C>T, NC_000023.10:g.108919610C>A, NC_000023.10:g.108919610C>G, NC_000023.10:g.108919610C>T, NG_008053.1:g.62012G>T, NG_008053.1:g.62012G>C, NG_008053.1:g.62012G>A

Select item 149089474211.

rs1490894742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:109652648 (GRCh38)
X:108895877 (GRCh37)
Canonical SPDI:: NC_000023.11:109652647:C:A
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.109652648C>A, NC_000023.10:g.108895877C>A, NG_008053.1:g.85745G>T

Select item 149086831612.

rs1490868316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:109698454 (GRCh38)
X:108941683 (GRCh37)
Canonical SPDI:: NC_000023.11:109698453:G:C
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.109698454G>C, NC_000023.10:g.108941683G>C, NG_008053.1:g.39939C>G

Select item 149082256313.

rs1490822563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:109650969 (GRCh38)
X:108894198 (GRCh37)
Canonical SPDI:: NC_000023.11:109650968:A:G
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.109650969A>G, NC_000023.10:g.108894198A>G, NG_008053.1:g.87424T>C

Select item 149077965514.

rs1490779655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:109733394 (GRCh38)
X:108976623 (GRCh37)
Canonical SPDI:: NC_000023.11:109733393:G:A
Gene:: ACSL4 (Varview), LOC105373311 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109733394G>A, NC_000023.10:g.108976623G>A, NG_008053.1:g.4999C>T, NM_001318509.1:c.-489C>T, NM_001318510.1:c.-321C>T, NR_158569.1:n.884G>A

Select item 149077775915.

rs1490777759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:109649405 (GRCh38)
X:108892634 (GRCh37)
Canonical SPDI:: NC_000023.11:109649404:A:G,NC_000023.11:109649404:A:T
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000045/1 (TOMMO)
G=0.000045/12 (TOPMED)
G=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.109649405A>G, NC_000023.11:g.109649405A>T, NC_000023.10:g.108892634A>G, NC_000023.10:g.108892634A>T, NG_008053.1:g.88988T>C, NG_008053.1:g.88988T>A

Select item 149076540116.

rs1490765401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:109701303 (GRCh38)
X:108944532 (GRCh37)
Canonical SPDI:: NC_000023.11:109701302:A:G
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.109701303A>G, NC_000023.10:g.108944532A>G, NG_008053.1:g.37090T>C

Select item 149064454917.

rs1490644549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:109653322 (GRCh38)
X:108896551 (GRCh37)
Canonical SPDI:: NC_000023.11:109653321:G:A
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.109653322G>A, NC_000023.10:g.108896551G>A, NG_008053.1:g.85071C>T

Select item 149061355918.

rs1490613559 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:109650222 (GRCh38)
X:108893451 (GRCh37)
Canonical SPDI:: NC_000023.11:109650221:G:
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000058/6 (GnomAD)
-=0.000076/20 (TOPMED)
HGVS:: NC_000023.11:g.109650222del, NC_000023.10:g.108893451del, NG_008053.1:g.88171del

Select item 149060056919.

rs1490600569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:109702408 (GRCh38)
X:108945637 (GRCh37)
Canonical SPDI:: NC_000023.11:109702407:C:G
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109702408C>G, NC_000023.10:g.108945637C>G, NG_008053.1:g.35985G>C

Select item 149056844720.

rs1490568447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:109687853 (GRCh38)
X:108931082 (GRCh37)
Canonical SPDI:: NC_000023.11:109687852:C:T
Gene:: ACSL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109687853C>T, NC_000023.10:g.108931082C>T, NG_008053.1:g.50540G>A