SNP Links for Gene (Select 338094) - SNP

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Select item 14915052731.

rs1491505273 has merged into rs56229276 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:54617721 (GRCh38)
1:55083394 (GRCh37)
Canonical SPDI:: NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:54617709:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.54617721_54617744del, NC_000001.11:g.54617723_54617744del, NC_000001.11:g.54617724_54617744del, NC_000001.11:g.54617725_54617744del, NC_000001.11:g.54617726_54617744del, NC_000001.11:g.54617727_54617744del, NC_000001.11:g.54617728_54617744del, NC_000001.11:g.54617729_54617744del, NC_000001.11:g.54617730_54617744del, NC_000001.11:g.54617731_54617744del, NC_000001.11:g.54617732_54617744del, NC_000001.11:g.54617733_54617744del, NC_000001.11:g.54617734_54617744del, NC_000001.11:g.54617735_54617744del, NC_000001.11:g.54617736_54617744del, NC_000001.11:g.54617737_54617744del, NC_000001.11:g.54617738_54617744del, NC_000001.11:g.54617739_54617744del, NC_000001.11:g.54617740_54617744del, NC_000001.11:g.54617741_54617744del, NC_000001.11:g.54617742_54617744del, NC_000001.11:g.54617743_54617744del, NC_000001.11:g.54617744del, NC_000001.11:g.54617744dup, NC_000001.11:g.54617743_54617744dup, NC_000001.11:g.54617742_54617744dup, NC_000001.11:g.54617741_54617744dup, NC_000001.11:g.54617740_54617744dup, NC_000001.11:g.54617739_54617744dup, NC_000001.11:g.54617738_54617744dup, NC_000001.11:g.54617737_54617744dup, NC_000001.11:g.54617736_54617744dup, NC_000001.11:g.54617735_54617744dup, NC_000001.11:g.54617734_54617744dup, NC_000001.11:g.54617733_54617744dup, NC_000001.11:g.54617732_54617744dup, NC_000001.11:g.54617731_54617744dup, NC_000001.10:g.55083394_55083417del, NC_000001.10:g.55083396_55083417del, NC_000001.10:g.55083397_55083417del, NC_000001.10:g.55083398_55083417del, NC_000001.10:g.55083399_55083417del, NC_000001.10:g.55083400_55083417del, NC_000001.10:g.55083401_55083417del, NC_000001.10:g.55083402_55083417del, NC_000001.10:g.55083403_55083417del, NC_000001.10:g.55083404_55083417del, NC_000001.10:g.55083405_55083417del, NC_000001.10:g.55083406_55083417del, NC_000001.10:g.55083407_55083417del, NC_000001.10:g.55083408_55083417del, NC_000001.10:g.55083409_55083417del, NC_000001.10:g.55083410_55083417del, NC_000001.10:g.55083411_55083417del, NC_000001.10:g.55083412_55083417del, NC_000001.10:g.55083413_55083417del, NC_000001.10:g.55083414_55083417del, NC_000001.10:g.55083415_55083417del, NC_000001.10:g.55083416_55083417del, NC_000001.10:g.55083417del, NC_000001.10:g.55083417dup, NC_000001.10:g.55083416_55083417dup, NC_000001.10:g.55083415_55083417dup, NC_000001.10:g.55083414_55083417dup, NC_000001.10:g.55083413_55083417dup, NC_000001.10:g.55083412_55083417dup, NC_000001.10:g.55083411_55083417dup, NC_000001.10:g.55083410_55083417dup, NC_000001.10:g.55083409_55083417dup, NC_000001.10:g.55083408_55083417dup, NC_000001.10:g.55083407_55083417dup, NC_000001.10:g.55083406_55083417dup, NC_000001.10:g.55083405_55083417dup, NC_000001.10:g.55083404_55083417dup

Select item 14914103732.

rs1491410373 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:54617709 (GRCh38)
1:55083382 (GRCh37)
Canonical SPDI:: NC_000001.11:54617708:AT:
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.54617709_54617710del, NC_000001.10:g.55083382_55083383del

Select item 14913869363.

rs1491386936 has merged into rs71045199 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:54614949 (GRCh38)
1:55080622 (GRCh37)
Canonical SPDI:: NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:54614939:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
GT=0.453/1577 (1000Genomes)
HGVS:: NC_000001.11:g.54614941TG[4], NC_000001.11:g.54614941TG[5], NC_000001.11:g.54614941TG[6], NC_000001.11:g.54614941TG[8], NC_000001.11:g.54614941TG[9], NC_000001.11:g.54614941TG[10], NC_000001.11:g.54614941TG[11], NC_000001.11:g.54614941TG[12], NC_000001.11:g.54614941TG[13], NC_000001.10:g.55080614TG[4], NC_000001.10:g.55080614TG[5], NC_000001.10:g.55080614TG[6], NC_000001.10:g.55080614TG[8], NC_000001.10:g.55080614TG[9], NC_000001.10:g.55080614TG[10], NC_000001.10:g.55080614TG[11], NC_000001.10:g.55080614TG[12], NC_000001.10:g.55080614TG[13]

Select item 14906241904.

rs1490624190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54612695 (GRCh38)
1:55078368 (GRCh37)
Canonical SPDI:: NC_000001.11:54612694:G:A
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.54612695G>A, NC_000001.10:g.55078368G>A, NM_176782.3:c.591C>T, NM_176782.2:c.591C>T, XM_047419139.1:c.513C>T

Select item 14904919365.

rs1490491936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54623051 (GRCh38)
1:55088724 (GRCh37)
Canonical SPDI:: NC_000001.11:54623050:C:T
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000001.11:g.54623051C>T, NC_000001.10:g.55088724C>T

Select item 14904196796.

rs1490419679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54621523 (GRCh38)
1:55087196 (GRCh37)
Canonical SPDI:: NC_000001.11:54621522:G:A
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54621523G>A, NC_000001.10:g.55087196G>A

Select item 14902204887.

rs1490220488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54615565 (GRCh38)
1:55081238 (GRCh37)
Canonical SPDI:: NC_000001.11:54615564:G:A
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.54615565G>A, NC_000001.10:g.55081238G>A

Select item 14901790908.

rs1490179090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:54622275 (GRCh38)
1:55087948 (GRCh37)
Canonical SPDI:: NC_000001.11:54622274:C:A
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0025/37 (ALFA)
A=0.00411/113 (TOMMO)
A=0.09392/275 (KOREAN)
HGVS:: NC_000001.11:g.54622275C>A, NC_000001.10:g.55087948C>A

Select item 14898951909.

rs1489895190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54622220 (GRCh38)
1:55087893 (GRCh37)
Canonical SPDI:: NC_000001.11:54622219:G:A
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54622220G>A, NC_000001.10:g.55087893G>A

Select item 148955574410.

rs1489555744 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:54622752 (GRCh38)
1:55088425 (GRCh37)
Canonical SPDI:: NC_000001.11:54622751:TT:T
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54622753del, NC_000001.10:g.55088426del

Select item 148945977911.

rs1489459779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54612753 (GRCh38)
1:55078426 (GRCh37)
Canonical SPDI:: NC_000001.11:54612752:G:A
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.54612753G>A, NC_000001.10:g.55078426G>A

Select item 148945176812.

rs1489451768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54621995 (GRCh38)
1:55087668 (GRCh37)
Canonical SPDI:: NC_000001.11:54621994:C:T
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54621995C>T, NC_000001.10:g.55087668C>T

Select item 148922186213.

rs1489221862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54611640 (GRCh38)
1:55077313 (GRCh37)
Canonical SPDI:: NC_000001.11:54611639:A:G
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54611640A>G, NC_000001.10:g.55077313A>G, NM_176782.3:c.906T>C, NM_176782.2:c.906T>C, XM_047419139.1:c.828T>C

Select item 148905218914.

rs1489052189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:54617522 (GRCh38)
1:55083195 (GRCh37)
Canonical SPDI:: NC_000001.11:54617521:C:G
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.54617522C>G, NC_000001.10:g.55083195C>G

Select item 148874231715.

rs1488742317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:54615644 (GRCh38)
1:55081317 (GRCh37)
Canonical SPDI:: NC_000001.11:54615643:T:G
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.54615644T>G, NC_000001.10:g.55081317T>G

Select item 148870105516.

rs1488701055 has merged into rs35936174 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:54617473 (GRCh38)
1:55083146 (GRCh37)
Canonical SPDI:: NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:54617461:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.19024/113 (NorthernSweden)
-=0.3774/1890 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.54617473_54617478del, NC_000001.11:g.54617474_54617478del, NC_000001.11:g.54617475_54617478del, NC_000001.11:g.54617476_54617478del, NC_000001.11:g.54617477_54617478del, NC_000001.11:g.54617478del, NC_000001.11:g.54617478dup, NC_000001.11:g.54617477_54617478dup, NC_000001.11:g.54617473_54617478dup, NC_000001.10:g.55083146_55083151del, NC_000001.10:g.55083147_55083151del, NC_000001.10:g.55083148_55083151del, NC_000001.10:g.55083149_55083151del, NC_000001.10:g.55083150_55083151del, NC_000001.10:g.55083151del, NC_000001.10:g.55083151dup, NC_000001.10:g.55083150_55083151dup, NC_000001.10:g.55083146_55083151dup

Select item 148862697217.

rs1488626972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54620949 (GRCh38)
1:55086622 (GRCh37)
Canonical SPDI:: NC_000001.11:54620948:C:T
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.54620949C>T, NC_000001.10:g.55086622C>T

Select item 148838249318.

rs1488382493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:54619289 (GRCh38)
1:55084962 (GRCh37)
Canonical SPDI:: NC_000001.11:54619288:T:G
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54619289T>G, NC_000001.10:g.55084962T>G

Select item 148773676819.

rs1487736768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54613775 (GRCh38)
1:55079448 (GRCh37)
Canonical SPDI:: NC_000001.11:54613774:C:T
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.54613775C>T, NC_000001.10:g.55079448C>T

Select item 148754460220.

rs1487544602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:54609856 (GRCh38)
1:55075529 (GRCh37)
Canonical SPDI:: NC_000001.11:54609855:G:T
Gene:: ACOT11 (Varview), FAM151A (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54609856G>T, NC_000001.10:g.55075529G>T, NM_147161.4:c.*744G>T, NM_147161.3:c.*744G>T, NM_176782.3:c.1170C>A, NM_176782.2:c.1170C>A, XM_047419139.1:c.1092C>A

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