SNP Links for Gene (Select 79888) - SNP

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Select item 14915553221.

rs1491555322 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGAGA,CTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGTGA [Show Flanks]
Chromosome:: 5:1472018 (GRCh38)
5:1472134 (GRCh37)
Canonical SPDI:: NC_000005.10:1472018:GA:GACTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGAGA,NC_000005.10:1472018:GA:GACTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGTGA
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GACTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGT=0.00005/1 (TOMMO)
GACTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGA=0.00011/1 (GnomAD)
HGVS:: NC_000005.10:g.1472020_1472021insCTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGAGA, NC_000005.10:g.1472020_1472021insCTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGTGA, NC_000005.9:g.1472135_1472136insCTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGAGA, NC_000005.9:g.1472135_1472136insCTCTAGTCAGAGGGCAGGAGGACGTGAGGAGCACCTGGGGCAGAGTGA, NG_051622.1:g.56958_56959TC[3]TGCCCCAGGTGCTCCTCACGTCCTCCTGCCCTCTGACTAGAGTC[1], NG_051622.1:g.56959_56960insACTCTGCCCCAGGTGCTCCTCACGTCCTCCTGCCCTCTGACTAGAGTC, NT_187547.1:g.37753_37754TC[3]TGCCCCAGGTGCTCCTCACGTCCTCCTGCCCTCTGACTAGAGTC[1], NT_187547.1:g.37754_37755insACTCTGCCCCAGGTGCTCCTCACGTCCTCCTGCCCTCTGACTAGAGTC

Select item 14914896652.

rs1491489665 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:1520860 (GRCh38)
5:1520975 (GRCh37)
Canonical SPDI:: NC_000005.10:1520859:CA:
Gene:: LPCAT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01079/128 (ALFA)
-=0.00372/96 (TOMMO)
HGVS:: NC_000005.10:g.1520860_1520861del, NC_000005.9:g.1520975_1520976del, NG_051622.1:g.8117_8118del

Select item 14914731143.

rs1491473114 has merged into rs61704940 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:1472025 (GRCh38)
5:1472140 (GRCh37)
Canonical SPDI:: NC_000005.10:1472023:CGC:C
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00176/19 (TOMMO)
-=0.00328/21 (1000Genomes)
HGVS:: NC_000005.10:g.1472025_1472026del, NC_000005.9:g.1472140_1472141del, NG_051622.1:g.56953_56954del, NT_187547.1:g.37748_37749del

Select item 14914435414.

rs1491443541 has merged into rs34776767 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAAA [Show Flanks]
Chromosome:: 5:1464882 (GRCh38)
5:1464997 (GRCh37)
Canonical SPDI:: NC_000005.10:1464880:AAA:A,NC_000005.10:1464880:AAA:AAAA,NC_000005.10:1464880:AAA:AAAAAA
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.0096/1 (Vietnamese)
HGVS:: NC_000005.10:g.1464882_1464883del, NC_000005.10:g.1464883dup, NC_000005.10:g.1464881_1464883dup, NC_000005.9:g.1464997_1464998del, NC_000005.9:g.1464998dup, NC_000005.9:g.1464996_1464998dup, NG_051622.1:g.64096_64097del, NG_051622.1:g.64097dup, NG_051622.1:g.64095_64097dup, NT_187547.1:g.44891_44892del, NT_187547.1:g.44892dup, NT_187547.1:g.44890_44892dup

Select item 14913440335.

rs1491344033 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14913077936.

rs1491307793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:1471813 (GRCh38)
5:1471929 (GRCh37)
Canonical SPDI:: NC_000005.10:1471813:GGGGG:GGGGGG
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1471818dup, NC_000005.9:g.1471933dup, NG_051622.1:g.57164dup, NT_187547.1:g.37959dup

Select item 14913044507.

rs1491304450 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAGGAGCACCTGGGGCAGAGGGAGGATG [Show Flanks]
Chromosome:: 5:1472024 (GRCh38)
5:1472140 (GRCh37)
Canonical SPDI:: NC_000005.10:1472024:G:GTGAGGAGCACCTGGGGCAGAGGGAGGATG
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GTGAGGAGCACCTGGGGCAGAGGGAGGAT=0.0017/16 (GnomAD)
HGVS:: NC_000005.10:g.1472025_1472026insTGAGGAGCACCTGGGGCAGAGGGAGGATG, NC_000005.9:g.1472140_1472141insTGAGGAGCACCTGGGGCAGAGGGAGGATG, NG_051622.1:g.56953_56954insATCCTCCCTCTGCCCCAGGTGCTCCTCAC, NT_187547.1:g.37748_37749insATCCTCCCTCTGCCCCAGGTGCTCCTCAC

Select item 14912950818.

rs1491295081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACACAAACGTGTG [Show Flanks]
Chromosome:: 5:1465748 (GRCh38)
5:1465864 (GRCh37)
Canonical SPDI:: NC_000005.10:1465748:TGTGTACACAAACGTGTG:TGTGTACACAAACGTGTGTACACAAACGTGTG
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTACACAAACGTGTGTACACAAACGTGTG=0./0 (ALFA)
TGTGTACACAAACG=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1465753_1465766dup, NC_000005.9:g.1465868_1465881dup, NG_051622.1:g.63216_63229dup, NT_187547.1:g.44011_44024dup

Select item 14912662929.

rs1491266292 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:1481709 (GRCh38)
5:1481824 (GRCh37)
Canonical SPDI:: NC_000005.10:1481708:CT:
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.1481709_1481710del, NC_000005.9:g.1481824_1481825del, NG_051622.1:g.47268_47269del, NT_187547.1:g.28063_28064del

Select item 149121478410.

rs1491214784 has merged into rs36081788 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 5:1464654 (GRCh38)
5:1464769 (GRCh37)
Canonical SPDI:: NC_000005.10:1464643:CACACACACACACACA:CACACACACA,NC_000005.10:1464643:CACACACACACACACA:CACACACACACA,NC_000005.10:1464643:CACACACACACACACA:CACACACACACACA,NC_000005.10:1464643:CACACACACACACACA:CACACACACACACACACA,NC_000005.10:1464643:CACACACACACACACA:CACACACACACACACACACA,NC_000005.10:1464643:CACACACACACACACA:CACACACACACACACACACACA
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
-=0.00311/12 (ALSPAC)
-=0.21845/1094 (1000Genomes)
HGVS:: NC_000005.10:g.1464644CA[5], NC_000005.10:g.1464644CA[6], NC_000005.10:g.1464644CA[7], NC_000005.10:g.1464644CA[9], NC_000005.10:g.1464644CA[10], NC_000005.10:g.1464644CA[11], NC_000005.9:g.1464759CA[5], NC_000005.9:g.1464759CA[6], NC_000005.9:g.1464759CA[7], NC_000005.9:g.1464759CA[9], NC_000005.9:g.1464759CA[10], NC_000005.9:g.1464759CA[11], NG_051622.1:g.64319TG[5], NG_051622.1:g.64319TG[6], NG_051622.1:g.64319TG[7], NG_051622.1:g.64319TG[9], NG_051622.1:g.64319TG[10], NG_051622.1:g.64319TG[11], NT_187547.1:g.45114TG[5], NT_187547.1:g.45114TG[6], NT_187547.1:g.45114TG[7], NT_187547.1:g.45114TG[9], NT_187547.1:g.45114TG[10], NT_187547.1:g.45114TG[11]

Select item 149119566111.

rs1491195661 has merged into rs59074953 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:1520866 (GRCh38)
5:1520981 (GRCh37)
Canonical SPDI:: NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1520860:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
AA=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.1520866_1520879del, NC_000005.10:g.1520868_1520879del, NC_000005.10:g.1520871_1520879del, NC_000005.10:g.1520872_1520879del, NC_000005.10:g.1520873_1520879del, NC_000005.10:g.1520874_1520879del, NC_000005.10:g.1520875_1520879del, NC_000005.10:g.1520876_1520879del, NC_000005.10:g.1520877_1520879del, NC_000005.10:g.1520878_1520879del, NC_000005.10:g.1520879del, NC_000005.10:g.1520879dup, NC_000005.10:g.1520878_1520879dup, NC_000005.10:g.1520877_1520879dup, NC_000005.10:g.1520876_1520879dup, NC_000005.10:g.1520875_1520879dup, NC_000005.10:g.1520874_1520879dup, NC_000005.10:g.1520873_1520879dup, NC_000005.10:g.1520872_1520879dup, NC_000005.10:g.1520871_1520879dup, NC_000005.10:g.1520870_1520879dup, NC_000005.10:g.1520869_1520879dup, NC_000005.10:g.1520868_1520879dup, NC_000005.10:g.1520867_1520879dup, NC_000005.10:g.1520866_1520879dup, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520879_1520880insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.1520861_1520879A[20]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.1520981_1520994del, NC_000005.9:g.1520983_1520994del, NC_000005.9:g.1520986_1520994del, NC_000005.9:g.1520987_1520994del, NC_000005.9:g.1520988_1520994del, NC_000005.9:g.1520989_1520994del, NC_000005.9:g.1520990_1520994del, NC_000005.9:g.1520991_1520994del, NC_000005.9:g.1520992_1520994del, NC_000005.9:g.1520993_1520994del, NC_000005.9:g.1520994del, NC_000005.9:g.1520994dup, NC_000005.9:g.1520993_1520994dup, NC_000005.9:g.1520992_1520994dup, NC_000005.9:g.1520991_1520994dup, NC_000005.9:g.1520990_1520994dup, NC_000005.9:g.1520989_1520994dup, NC_000005.9:g.1520988_1520994dup, NC_000005.9:g.1520987_1520994dup, NC_000005.9:g.1520986_1520994dup, NC_000005.9:g.1520985_1520994dup, NC_000005.9:g.1520984_1520994dup, NC_000005.9:g.1520983_1520994dup, NC_000005.9:g.1520982_1520994dup, NC_000005.9:g.1520981_1520994dup, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520994_1520995insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.1520976_1520994A[20]GAAAAAAAAAAAAAAAAAAAAAA[1], NG_051622.1:g.8104_8117del, NG_051622.1:g.8106_8117del, NG_051622.1:g.8109_8117del, NG_051622.1:g.8110_8117del, NG_051622.1:g.8111_8117del, NG_051622.1:g.8112_8117del, NG_051622.1:g.8113_8117del, NG_051622.1:g.8114_8117del, NG_051622.1:g.8115_8117del, NG_051622.1:g.8116_8117del, NG_051622.1:g.8117del, NG_051622.1:g.8117dup, NG_051622.1:g.8116_8117dup, NG_051622.1:g.8115_8117dup, NG_051622.1:g.8114_8117dup, NG_051622.1:g.8113_8117dup, NG_051622.1:g.8112_8117dup, NG_051622.1:g.8111_8117dup, NG_051622.1:g.8110_8117dup, NG_051622.1:g.8109_8117dup, NG_051622.1:g.8108_8117dup, NG_051622.1:g.8107_8117dup, NG_051622.1:g.8106_8117dup, NG_051622.1:g.8105_8117dup, NG_051622.1:g.8104_8117dup, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8117_8118insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051622.1:g.8099_8117T[22]CTTTTTTTTTTTTTTTTTTTT[1]

Select item 149116747812.

rs1491167478 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:1465412 (GRCh38)
5:1465527 (GRCh37)
Canonical SPDI:: NC_000005.10:1465411:TA:
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.1465412_1465413del, NC_000005.9:g.1465527_1465528del, NG_051622.1:g.63565_63566del, NT_187547.1:g.44360_44361del

Select item 149116066813.

rs1491160668 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,CGGGGGGGCGCTCAGAGCTG [Show Flanks]
Chromosome:: 5:1495331 (GRCh38)
5:1495447 (GRCh37)
Canonical SPDI:: NC_000005.10:1495331:G:GCG,NC_000005.10:1495331:G:GCGGGGGGGCGCTCAGAGCTG
Gene:: LPCAT1 (Varview), LOC124901162 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGGGGGGCGCTCAGAGCTG=0./0 (ALFA)
HGVS:: NC_000005.10:g.1495332_1495333insCG, NC_000005.10:g.1495332_1495333insCGGGGGGGCGCTCAGAGCTG, NC_000005.9:g.1495447_1495448insCG, NC_000005.9:g.1495447_1495448insCGGGGGGGCGCTCAGAGCTG, NG_051622.1:g.33646_33647insGC, NG_051622.1:g.33646_33647insAGCTCTGAGCGCCCCCCCGC, NT_187547.1:g.14441_14442insGC, NT_187547.1:g.14441_14442insAGCTCTGAGCGCCCCCCCGC, XR_007059103.1:n.5004_5005insCG, XR_007059103.1:n.5004_5005insCGGGGGGGCGCTCAGAGCTG

Select item 149112171414.

rs1491121714 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:1481710 (GRCh38)
5:1481825 (GRCh37)
Canonical SPDI:: NC_000005.10:1481709:TTTTTT:TTTTT,NC_000005.10:1481709:TTTTTT:TTTTTTT
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000005.10:g.1481715del, NC_000005.10:g.1481715dup, NC_000005.9:g.1481830del, NC_000005.9:g.1481830dup, NG_051622.1:g.47268del, NG_051622.1:g.47268dup, NT_187547.1:g.28063del, NT_187547.1:g.28063dup

Select item 149107583015.

rs1491075830 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:1498543 (GRCh38)
5:1498658 (GRCh37)
Canonical SPDI:: NC_000005.10:1498541:CTC:C
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.1498543_1498544del, NC_000005.9:g.1498658_1498659del, NG_051622.1:g.30435_30436del, NT_187547.1:g.11230_11231del

Select item 149105504416.

rs1491055044 has merged into rs1553991811 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 5:1464707 (GRCh38)
5:1464822 (GRCh37)
Canonical SPDI:: NC_000005.10:1464705:AAA:A,NC_000005.10:1464705:AAA:AAAA
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.1464707_1464708del, NC_000005.10:g.1464708dup, NC_000005.9:g.1464822_1464823del, NC_000005.9:g.1464823dup, NG_051622.1:g.64271_64272del, NG_051622.1:g.64272dup, NT_187547.1:g.45066_45067del, NT_187547.1:g.45067dup

Select item 149104283917.

rs1491042839 has merged into rs1361043594 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 5:1464754 (GRCh38)
5:1464869 (GRCh37)
Canonical SPDI:: NC_000005.10:1464751:AAAA:AA,NC_000005.10:1464751:AAAA:AAA,NC_000005.10:1464751:AAAA:AAAAA
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.1464754_1464755del, NC_000005.10:g.1464755del, NC_000005.10:g.1464755dup, NC_000005.9:g.1464869_1464870del, NC_000005.9:g.1464870del, NC_000005.9:g.1464870dup, NG_051622.1:g.64225_64226del, NG_051622.1:g.64226del, NG_051622.1:g.64226dup, NT_187547.1:g.45020_45021del, NT_187547.1:g.45021del, NT_187547.1:g.45021dup

Select item 149103863618.

rs1491038636 has merged into rs11463524 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:1504724 (GRCh38)
5:1504839 (GRCh37)
Canonical SPDI:: NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:1504714:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LPCAT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.1504724_1504732del, NC_000005.10:g.1504725_1504732del, NC_000005.10:g.1504727_1504732del, NC_000005.10:g.1504729_1504732del, NC_000005.10:g.1504730_1504732del, NC_000005.10:g.1504731_1504732del, NC_000005.10:g.1504732del, NC_000005.10:g.1504732dup, NC_000005.10:g.1504731_1504732dup, NC_000005.10:g.1504730_1504732dup, NC_000005.10:g.1504729_1504732dup, NC_000005.10:g.1504728_1504732dup, NC_000005.10:g.1504721_1504732dup, NC_000005.10:g.1504715_1504732A[20]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.1504715_1504732A[20]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.1504839_1504847del, NC_000005.9:g.1504840_1504847del, NC_000005.9:g.1504842_1504847del, NC_000005.9:g.1504844_1504847del, NC_000005.9:g.1504845_1504847del, NC_000005.9:g.1504846_1504847del, NC_000005.9:g.1504847del, NC_000005.9:g.1504847dup, NC_000005.9:g.1504846_1504847dup, NC_000005.9:g.1504845_1504847dup, NC_000005.9:g.1504844_1504847dup, NC_000005.9:g.1504843_1504847dup, NC_000005.9:g.1504836_1504847dup, NC_000005.9:g.1504830_1504847A[20]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.1504830_1504847A[20]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051622.1:g.24255_24263del, NG_051622.1:g.24256_24263del, NG_051622.1:g.24258_24263del, NG_051622.1:g.24260_24263del, NG_051622.1:g.24261_24263del, NG_051622.1:g.24262_24263del, NG_051622.1:g.24263del, NG_051622.1:g.24263dup, NG_051622.1:g.24262_24263dup, NG_051622.1:g.24261_24263dup, NG_051622.1:g.24260_24263dup, NG_051622.1:g.24259_24263dup, NG_051622.1:g.24252_24263dup, NG_051622.1:g.24246_24263T[21]GTTTTTTTTTTTTTTTTTTTT[1], NG_051622.1:g.24246_24263T[25]GTTTTTTTTTTTTTTTTTTTT[1], NT_187547.1:g.5050_5058del, NT_187547.1:g.5051_5058del, NT_187547.1:g.5053_5058del, NT_187547.1:g.5055_5058del, NT_187547.1:g.5056_5058del, NT_187547.1:g.5057_5058del, NT_187547.1:g.5058del, NT_187547.1:g.5058dup, NT_187547.1:g.5057_5058dup, NT_187547.1:g.5056_5058dup, NT_187547.1:g.5055_5058dup, NT_187547.1:g.5054_5058dup, NT_187547.1:g.5047_5058dup, NT_187547.1:g.5041_5058T[21]GTTTTTTTTTTTTTTTTTTTT[1], NT_187547.1:g.5041_5058T[25]GTTTTTTTTTTTTTTTTTTTT[1]

Select item 149098155319.

rs1490981553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1467543 (GRCh38)
5:1467658 (GRCh37)
Canonical SPDI:: NC_000005.10:1467542:G:A
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.1467543G>A, NC_000005.9:g.1467658G>A, NG_051622.1:g.61435C>T, NT_187547.1:g.42230C>T

Select item 149094800020.

rs1490948000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:1480215 (GRCh38)
5:1480330 (GRCh37)
Canonical SPDI:: NC_000005.10:1480214:A:C
Gene:: LPCAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.07368/874 (ALFA)
C=0.00021/6 (TOMMO)
C=0.02096/61 (KOREAN)
HGVS:: NC_000005.10:g.1480215A>C, NC_000005.9:g.1480330A>C, NG_051622.1:g.48763T>G, NT_187547.1:g.29558T>G

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