SNP Links for Nucleotide (Select 194018436) - SNP

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Select item 14915867171.

rs1491586717 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT,TTT,TTTCCTTCCTTTCTTT,TTTCCTTCCTTTCTTTCTTTCTTTCTTT,TTTCCTTT,TTTCCTTTCCTTTCTTTCTTTCTTTCTTT,TTTCCTTTCTTT,TTTCCTTTCTTTCTTT,TTTCCTTTCTTTCTTTCTTT,TTTCCTTTCTTTCTTTCTTTCTTT,TTTCCTTTCTTTCTTTCTTTCTTTCTTT,TTTCTTT,TTTCTTTCCTTT,TTTCTTTCCTTTCTTT,TTTCTTTCCTTTCTTTCTTT,TTTCTTTCCTTTCTTTCTTTCTTT,TTTCTTTCCTTTCTTTCTTTCTTTCTTT,TTTCTTTCTTT,TTTCTTTCTTTCCTTTCTTTCTTTCTTT,TTTCTTTCTTTCTTTCTTT,TTTCTTTCTTTCTTTCTTTCCTTTCTTT,TTTCTTTCTTTCTTTCTTTCTTT,TTTCTTTCTTTCTTTCTTTTCTTT,TTTCTTTTCTTTCTTTCCTTT,TTTT,TTTTCTTT,TTTTCTTTCTTT,TTTTCTTTCTTTCCTTT,TTTTCTTTCTTTCCTTTCTTT [Show Flanks]
Chromosome:: 6:112190947 (GRCh38)
6:112512150 (GRCh37)
Canonical SPDI:: NC_000006.12:112190947::T,NC_000006.12:112190947::TT,NC_000006.12:112190947::TTT,NC_000006.12:112190947::TTTCCTTCCTTTCTTT,NC_000006.12:112190947::TTTCCTTCCTTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCCTTT,NC_000006.12:112190947::TTTCCTTTCCTTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCCTTTCTTT,NC_000006.12:112190947::TTTCCTTTCTTTCTTT,NC_000006.12:112190947::TTTCCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCCTTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCCTTTCTTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTT,NC_000006.12:112190947::TTTCTTTCCTTT,NC_000006.12:112190947::TTTCTTTCCTTTCTTT,NC_000006.12:112190947::TTTCTTTCCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCCTTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCTTTCCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCTTTCTTTCTTTCCTTTCTTT,NC_000006.12:112190947::TTTCTTTCTTTCTTTCTTTCTTT,NC_000006.12:112190947::TTTCTTTCTTTCTTTCTTTTCTTT,NC_000006.12:112190947::TTTCTTTTCTTTCTTTCCTTT,NC_000006.12:112190947::TTTT,NC_000006.12:112190947::TTTTCTTT,NC_000006.12:112190947::TTTTCTTTCTTT,NC_000006.12:112190947::TTTTCTTTCTTTCCTTT,NC_000006.12:112190947::TTTTCTTTCTTTCCTTTCTTT
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000006.12:g.112190947_112190948insT, NC_000006.12:g.112190947_112190948insTT, NC_000006.12:g.112190947_112190948insTTT, NC_000006.12:g.112190947_112190948insTTTCCTTCCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCCTTTCTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCTTTCCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCTTTCTTTCTTTCCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCTTTCTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTCTTTCTTTCTTTTCTTT, NC_000006.12:g.112190947_112190948insTTTCTTTTCTTTCTTTCCTTT, NC_000006.12:g.112190947_112190948insTTTT, NC_000006.12:g.112190947_112190948insTTTTCTTT, NC_000006.12:g.112190947_112190948insTTTTCTTTCTTT, NC_000006.12:g.112190947_112190948insTTTTCTTTCTTTCCTTT, NC_000006.12:g.112190947_112190948insTTTTCTTTCTTTCCTTTCTTT, NW_003871062.1:g.188468_188469insT, NW_003871062.1:g.188468_188469insTT, NW_003871062.1:g.188468_188469insTTT, NW_003871062.1:g.188468_188469insTTTCCTTCCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTCCTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTT, NW_003871062.1:g.188468_188469insTTTCCTTTCCTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCCTTTCTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCCTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCTTTCCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCTTTCTTTCTTTCCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCTTTCTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTCTTTCTTTCTTTTCTTT, NW_003871062.1:g.188468_188469insTTTCTTTTCTTTCTTTCCTTT, NW_003871062.1:g.188468_188469insTTTT, NW_003871062.1:g.188468_188469insTTTTCTTT, NW_003871062.1:g.188468_188469insTTTTCTTTCTTT, NW_003871062.1:g.188468_188469insTTTTCTTTCTTTCCTTT, NW_003871062.1:g.188468_188469insTTTTCTTTCTTTCCTTTCTTT, NG_008209.1:g.68679_68680insA, NG_008209.1:g.68679_68680insAA, NG_008209.1:g.68679_68680insAAA, NG_008209.1:g.68679_68680insAAAGAAAGGAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAAGGAAGGAAA, NG_008209.1:g.68679_68680insAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAAGGAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAAGAAAGGAAA, NG_008209.1:g.68679_68680insAAAGAAA, NG_008209.1:g.68679_68680insAAAGGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAAGGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGGAAAGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGGAAAGAAAGAAAGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAGAAAGAAAGAAA, NG_008209.1:g.68679_68680insAAAGAAAAGAAAGAAAGAAAGAAA, NG_008209.1:g.68679_68680insAAAGGAAAGAAAGAAAAGAAA, NG_008209.1:g.68679_68680insAAAA, NG_008209.1:g.68679_68680insAAAGAAAA, NG_008209.1:g.68679_68680insAAAGAAAGAAAA, NG_008209.1:g.68679_68680insAAAGGAAAGAAAGAAAA, NG_008209.1:g.68679_68680insAAAGAAAGGAAAGAAAGAAAA, NC_000006.11:g.112512149_112512150insT, NC_000006.11:g.112512149_112512150insTT, NC_000006.11:g.112512149_112512150insTTT, NC_000006.11:g.112512149_112512150insTTTCCTTCCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCCTTTCTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCCTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCTTTCCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCTTTCTTTCTTTCCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCTTTCTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTCTTTCTTTCTTTTCTTT, NC_000006.11:g.112512149_112512150insTTTCTTTTCTTTCTTTCCTTT, NC_000006.11:g.112512149_112512150insTTTT, NC_000006.11:g.112512149_112512150insTTTTCTTT, NC_000006.11:g.112512149_112512150insTTTTCTTTCTTT, NC_000006.11:g.112512149_112512150insTTTTCTTTCTTTCCTTT, NC_000006.11:g.112512149_112512150insTTTTCTTTCTTTCCTTTCTTT

Select item 14915556682.

rs1491555668 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:112190898 (GRCh38)
6:112512101 (GRCh37)
Canonical SPDI:: NC_000006.12:112190898:C:CC
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.112190899dup, NW_003871062.1:g.188420dup, NG_008209.1:g.68728dup, NC_000006.11:g.112512101dup

Select item 14915525743.

rs1491552574 has merged into rs11332305 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:112154665 (GRCh38)
6:112475867 (GRCh37)
Canonical SPDI:: NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTT,NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:112154656:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: LAMA4 (Varview), LOC107986633 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.1339/520 (1000Genomes)
HGVS:: NC_000006.12:g.112154665_112154666del, NC_000006.12:g.112154666del, NC_000006.12:g.112154666dup, NC_000006.12:g.112154665_112154666dup, NC_000006.12:g.112154664_112154666dup, NC_000006.12:g.112154662_112154666dup, NC_000006.12:g.112154657_112154666dup, NW_003871062.1:g.152186_152187del, NW_003871062.1:g.152187del, NW_003871062.1:g.152187dup, NW_003871062.1:g.152186_152187dup, NW_003871062.1:g.152185_152187dup, NW_003871062.1:g.152183_152187dup, NW_003871062.1:g.152178_152187dup, NG_008209.1:g.104969_104970del, NG_008209.1:g.104970del, NG_008209.1:g.104970dup, NG_008209.1:g.104969_104970dup, NG_008209.1:g.104968_104970dup, NG_008209.1:g.104966_104970dup, NG_008209.1:g.104961_104970dup, NC_000006.11:g.112475867_112475868del, NC_000006.11:g.112475868del, NC_000006.11:g.112475868dup, NC_000006.11:g.112475867_112475868dup, NC_000006.11:g.112475866_112475868dup, NC_000006.11:g.112475864_112475868dup, NC_000006.11:g.112475859_112475868dup

Select item 14915501074.

rs1491550107 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 6:112190947 (GRCh38)
6:112512149 (GRCh37)
Canonical SPDI:: NC_000006.12:112190946:CC:
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.112190947_112190948del, NW_003871062.1:g.188468_188469del, NG_008209.1:g.68679_68680del, NC_000006.11:g.112512149_112512150del

Select item 14915300835.

rs1491530083 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:112249441 (GRCh38)
6:112570643 (GRCh37)
Canonical SPDI:: NC_000006.12:112249440:CA:
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000006.12:g.112249441_112249442del, NC_000006.11:g.112570643_112570644del, NG_008209.1:g.10185_10186del, NW_003871062.1:g.246962_246963del

Select item 14915064796.

rs1491506479 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CTTCC,CTTCCTTCC,CTTTCC,CTTTCTTTCC [Show Flanks]
Chromosome:: 6:112190934 (GRCh38)
6:112512137 (GRCh37)
Canonical SPDI:: NC_000006.12:112190934:C:CC,NC_000006.12:112190934:C:CCTTCC,NC_000006.12:112190934:C:CCTTCCTTCC,NC_000006.12:112190934:C:CCTTTCC,NC_000006.12:112190934:C:CCTTTCTTTCC
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.112190935dup, NC_000006.12:g.112190935_112190936insCTTCC, NC_000006.12:g.112190935CCTT[2]CC[1], NC_000006.12:g.112190935_112190936insCTTTCC, NC_000006.12:g.112190935_112190936insCTTTCTTTCC, NW_003871062.1:g.188456dup, NW_003871062.1:g.188456_188457insCTTCC, NW_003871062.1:g.188456CCTT[2]CC[1], NW_003871062.1:g.188456_188457insCTTTCC, NW_003871062.1:g.188456_188457insCTTTCTTTCC, NG_008209.1:g.68692dup, NG_008209.1:g.68692_68693insGAAGG, NG_008209.1:g.68692GGAA[2]GG[1], NG_008209.1:g.68692_68693insGAAAGG, NG_008209.1:g.68692_68693insGAAAGAAAGG, NC_000006.11:g.112512137dup, NC_000006.11:g.112512137_112512138insCTTCC, NC_000006.11:g.112512137CCTT[2]CC[1], NC_000006.11:g.112512137_112512138insCTTTCC, NC_000006.11:g.112512137_112512138insCTTTCTTTCC

Select item 14914901597.

rs1491490159 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 6:112190907 (GRCh38)
6:112512109 (GRCh37)
Canonical SPDI:: NC_000006.12:112190905:TCT:T,NC_000006.12:112190905:TCT:TCTCT
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000006.12:g.112190907_112190908del, NC_000006.12:g.112190907_112190908dup, NW_003871062.1:g.188428_188429del, NW_003871062.1:g.188428_188429dup, NG_008209.1:g.68720_68721del, NG_008209.1:g.68720_68721dup, NC_000006.11:g.112512109_112512110del, NC_000006.11:g.112512109_112512110dup

Select item 14914764118.

rs1491476411 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:112190919 (GRCh38)
6:112512121 (GRCh37)
Canonical SPDI:: NC_000006.12:112190917:TCT:T
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00028/26 (GnomAD)
HGVS:: NC_000006.12:g.112190919_112190920del, NW_003871062.1:g.188440_188441del, NG_008209.1:g.68708_68709del, NC_000006.11:g.112512121_112512122del

Select item 14914261849.

rs1491426184 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CTTCC [Show Flanks]
Chromosome:: 6:112190942 (GRCh38)
6:112512145 (GRCh37)
Canonical SPDI:: NC_000006.12:112190942:C:CC,NC_000006.12:112190942:C:CCTTCC
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000006.12:g.112190943dup, NC_000006.12:g.112190943_112190944insCTTCC, NW_003871062.1:g.188464dup, NW_003871062.1:g.188464_188465insCTTCC, NG_008209.1:g.68684dup, NG_008209.1:g.68684_68685insGAAGG, NC_000006.11:g.112512145dup, NC_000006.11:g.112512145_112512146insCTTCC

Select item 149140781410.

rs1491407814 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:112190935 (GRCh38)
6:112512137 (GRCh37)
Canonical SPDI:: NC_000006.12:112190933:TCT:T
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.112190935_112190936del, NW_003871062.1:g.188456_188457del, NG_008209.1:g.68692_68693del, NC_000006.11:g.112512137_112512138del

Select item 149140500311.

rs1491405003 has merged into rs144560300 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTTT [Show Flanks]
Chromosome:: 6:112141160 (GRCh38)
6:112462362 (GRCh37)
Canonical SPDI:: NC_000006.12:112141151:TTTTTTTTTT:TTTTTTTT,NC_000006.12:112141151:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:112141151:TTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:112141151:TTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: LAMA4 (Varview), LOC107986633 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.00033/6 (ALFA)
-=0.0267/134 (1000Genomes)
-=0.07041/129 (Korea1K)
-=0.08567/1436 (TOMMO)
HGVS:: NC_000006.12:g.112141160_112141161del, NC_000006.12:g.112141161del, NC_000006.12:g.112141161dup, NC_000006.12:g.112141156_112141161dup, NW_003871062.1:g.138681_138682del, NW_003871062.1:g.138682del, NW_003871062.1:g.138682dup, NW_003871062.1:g.138677_138682dup, NG_008209.1:g.118474_118475del, NG_008209.1:g.118475del, NG_008209.1:g.118475dup, NG_008209.1:g.118470_118475dup, NC_000006.11:g.112462362_112462363del, NC_000006.11:g.112462363del, NC_000006.11:g.112462363dup, NC_000006.11:g.112462358_112462363dup

Select item 149140009112.

rs1491400091 has merged into rs71762704 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:112249452 (GRCh38)
6:112570654 (GRCh37)
Canonical SPDI:: NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112249441:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.112249452_112249467del, NC_000006.12:g.112249454_112249467del, NC_000006.12:g.112249455_112249467del, NC_000006.12:g.112249456_112249467del, NC_000006.12:g.112249457_112249467del, NC_000006.12:g.112249458_112249467del, NC_000006.12:g.112249459_112249467del, NC_000006.12:g.112249460_112249467del, NC_000006.12:g.112249461_112249467del, NC_000006.12:g.112249462_112249467del, NC_000006.12:g.112249463_112249467del, NC_000006.12:g.112249464_112249467del, NC_000006.12:g.112249465_112249467del, NC_000006.12:g.112249466_112249467del, NC_000006.12:g.112249467del, NC_000006.12:g.112249467dup, NC_000006.12:g.112249466_112249467dup, NC_000006.12:g.112249465_112249467dup, NC_000006.12:g.112249464_112249467dup, NC_000006.12:g.112249463_112249467dup, NC_000006.12:g.112249462_112249467dup, NC_000006.12:g.112249461_112249467dup, NC_000006.11:g.112570654_112570669del, NC_000006.11:g.112570656_112570669del, NC_000006.11:g.112570657_112570669del, NC_000006.11:g.112570658_112570669del, NC_000006.11:g.112570659_112570669del, NC_000006.11:g.112570660_112570669del, NC_000006.11:g.112570661_112570669del, NC_000006.11:g.112570662_112570669del, NC_000006.11:g.112570663_112570669del, NC_000006.11:g.112570664_112570669del, NC_000006.11:g.112570665_112570669del, NC_000006.11:g.112570666_112570669del, NC_000006.11:g.112570667_112570669del, NC_000006.11:g.112570668_112570669del, NC_000006.11:g.112570669del, NC_000006.11:g.112570669dup, NC_000006.11:g.112570668_112570669dup, NC_000006.11:g.112570667_112570669dup, NC_000006.11:g.112570666_112570669dup, NC_000006.11:g.112570665_112570669dup, NC_000006.11:g.112570664_112570669dup, NC_000006.11:g.112570663_112570669dup, NG_008209.1:g.10170_10185del, NG_008209.1:g.10172_10185del, NG_008209.1:g.10173_10185del, NG_008209.1:g.10174_10185del, NG_008209.1:g.10175_10185del, NG_008209.1:g.10176_10185del, NG_008209.1:g.10177_10185del, NG_008209.1:g.10178_10185del, NG_008209.1:g.10179_10185del, NG_008209.1:g.10180_10185del, NG_008209.1:g.10181_10185del, NG_008209.1:g.10182_10185del, NG_008209.1:g.10183_10185del, NG_008209.1:g.10184_10185del, NG_008209.1:g.10185del, NG_008209.1:g.10185dup, NG_008209.1:g.10184_10185dup, NG_008209.1:g.10183_10185dup, NG_008209.1:g.10182_10185dup, NG_008209.1:g.10181_10185dup, NG_008209.1:g.10180_10185dup, NG_008209.1:g.10179_10185dup, NW_003871062.1:g.246973_246988del, NW_003871062.1:g.246975_246988del, NW_003871062.1:g.246976_246988del, NW_003871062.1:g.246977_246988del, NW_003871062.1:g.246978_246988del, NW_003871062.1:g.246979_246988del, NW_003871062.1:g.246980_246988del, NW_003871062.1:g.246981_246988del, NW_003871062.1:g.246982_246988del, NW_003871062.1:g.246983_246988del, NW_003871062.1:g.246984_246988del, NW_003871062.1:g.246985_246988del, NW_003871062.1:g.246986_246988del, NW_003871062.1:g.246987_246988del, NW_003871062.1:g.246988del, NW_003871062.1:g.246988dup, NW_003871062.1:g.246987_246988dup, NW_003871062.1:g.246986_246988dup, NW_003871062.1:g.246985_246988dup, NW_003871062.1:g.246984_246988dup, NW_003871062.1:g.246983_246988dup, NW_003871062.1:g.246982_246988dup

Select item 149137063313.

rs1491370633 has merged into rs58961903 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:112256199 (GRCh38)
6:112577401 (GRCh37)
Canonical SPDI:: NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112256186:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.112256199_112256215del, NC_000006.12:g.112256200_112256215del, NC_000006.12:g.112256201_112256215del, NC_000006.12:g.112256202_112256215del, NC_000006.12:g.112256203_112256215del, NC_000006.12:g.112256204_112256215del, NC_000006.12:g.112256205_112256215del, NC_000006.12:g.112256206_112256215del, NC_000006.12:g.112256207_112256215del, NC_000006.12:g.112256208_112256215del, NC_000006.12:g.112256209_112256215del, NC_000006.12:g.112256210_112256215del, NC_000006.12:g.112256211_112256215del, NC_000006.12:g.112256212_112256215del, NC_000006.12:g.112256213_112256215del, NC_000006.12:g.112256214_112256215del, NC_000006.12:g.112256215del, NC_000006.12:g.112256215dup, NC_000006.12:g.112256214_112256215dup, NC_000006.12:g.112256213_112256215dup, NC_000006.12:g.112256212_112256215dup, NC_000006.12:g.112256211_112256215dup, NC_000006.12:g.112256209_112256215dup, NC_000006.11:g.112577401_112577417del, NC_000006.11:g.112577402_112577417del, NC_000006.11:g.112577403_112577417del, NC_000006.11:g.112577404_112577417del, NC_000006.11:g.112577405_112577417del, NC_000006.11:g.112577406_112577417del, NC_000006.11:g.112577407_112577417del, NC_000006.11:g.112577408_112577417del, NC_000006.11:g.112577409_112577417del, NC_000006.11:g.112577410_112577417del, NC_000006.11:g.112577411_112577417del, NC_000006.11:g.112577412_112577417del, NC_000006.11:g.112577413_112577417del, NC_000006.11:g.112577414_112577417del, NC_000006.11:g.112577415_112577417del, NC_000006.11:g.112577416_112577417del, NC_000006.11:g.112577417del, NC_000006.11:g.112577417dup, NC_000006.11:g.112577416_112577417dup, NC_000006.11:g.112577415_112577417dup, NC_000006.11:g.112577414_112577417dup, NC_000006.11:g.112577413_112577417dup, NC_000006.11:g.112577411_112577417dup, NG_008209.1:g.3424_3440del, NG_008209.1:g.3425_3440del, NG_008209.1:g.3426_3440del, NG_008209.1:g.3427_3440del, NG_008209.1:g.3428_3440del, NG_008209.1:g.3429_3440del, NG_008209.1:g.3430_3440del, NG_008209.1:g.3431_3440del, NG_008209.1:g.3432_3440del, NG_008209.1:g.3433_3440del, NG_008209.1:g.3434_3440del, NG_008209.1:g.3435_3440del, NG_008209.1:g.3436_3440del, NG_008209.1:g.3437_3440del, NG_008209.1:g.3438_3440del, NG_008209.1:g.3439_3440del, NG_008209.1:g.3440del, NG_008209.1:g.3440dup, NG_008209.1:g.3439_3440dup, NG_008209.1:g.3438_3440dup, NG_008209.1:g.3437_3440dup, NG_008209.1:g.3436_3440dup, NG_008209.1:g.3434_3440dup, NW_003871062.1:g.253720_253736del, NW_003871062.1:g.253721_253736del, NW_003871062.1:g.253722_253736del, NW_003871062.1:g.253723_253736del, NW_003871062.1:g.253724_253736del, NW_003871062.1:g.253725_253736del, NW_003871062.1:g.253726_253736del, NW_003871062.1:g.253727_253736del, NW_003871062.1:g.253728_253736del, NW_003871062.1:g.253729_253736del, NW_003871062.1:g.253730_253736del, NW_003871062.1:g.253731_253736del, NW_003871062.1:g.253732_253736del, NW_003871062.1:g.253733_253736del, NW_003871062.1:g.253734_253736del, NW_003871062.1:g.253735_253736del, NW_003871062.1:g.253736del, NW_003871062.1:g.253736dup, NW_003871062.1:g.253735_253736dup, NW_003871062.1:g.253734_253736dup, NW_003871062.1:g.253733_253736dup, NW_003871062.1:g.253732_253736dup, NW_003871062.1:g.253730_253736dup

Select item 149136116314.

rs1491361163 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:112212226 (GRCh38)
6:112533427 (GRCh37)
Canonical SPDI:: NC_000006.12:112212225:AT:
Gene:: LAMA4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.112212226_112212227del, NW_003871062.1:g.209747_209748del, NG_008209.1:g.47401_47402del, NC_000006.11:g.112533427_112533428del

Select item 149135224215.

rs1491352242 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 6:112190923 (GRCh38)
6:112512125 (GRCh37)
Canonical SPDI:: NC_000006.12:112190921:TCT:T,NC_000006.12:112190921:TCT:TCTCT
Gene:: LAMA4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000006.12:g.112190923_112190924del, NC_000006.12:g.112190923_112190924dup, NW_003871062.1:g.188444_188445del, NW_003871062.1:g.188444_188445dup, NG_008209.1:g.68704_68705del, NG_008209.1:g.68704_68705dup, NC_000006.11:g.112512125_112512126del, NC_000006.11:g.112512125_112512126dup

Select item 149134404116.

rs1491344041 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:112190943 (GRCh38)
6:112512145 (GRCh37)
Canonical SPDI:: NC_000006.12:112190941:TCT:T
Gene:: LAMA4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112190943_112190944del, NW_003871062.1:g.188464_188465del, NG_008209.1:g.68684_68685del, NC_000006.11:g.112512145_112512146del

Select item 149132350917.

rs1491323509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CTTCC [Show Flanks]
Chromosome:: 6:112190922 (GRCh38)
6:112512125 (GRCh37)
Canonical SPDI:: NC_000006.12:112190922:C:CC,NC_000006.12:112190922:C:CCTTCC
Gene:: LAMA4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.112190923dup, NC_000006.12:g.112190923_112190924insCTTCC, NW_003871062.1:g.188444dup, NW_003871062.1:g.188444_188445insCTTCC, NG_008209.1:g.68704dup, NG_008209.1:g.68704_68705insGAAGG, NC_000006.11:g.112512125dup, NC_000006.11:g.112512125_112512126insCTTCC

Select item 149131306318.

rs1491313063 has merged into rs11343230 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:112212237 (GRCh38)
6:112533438 (GRCh37)
Canonical SPDI:: NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112212226:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LAMA4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.4982/2495 (1000Genomes)
HGVS:: NC_000006.12:g.112212237_112212243del, NC_000006.12:g.112212240_112212243del, NC_000006.12:g.112212241_112212243del, NC_000006.12:g.112212242_112212243del, NC_000006.12:g.112212243del, NC_000006.12:g.112212243dup, NC_000006.12:g.112212242_112212243dup, NC_000006.12:g.112212240_112212243dup, NC_000006.12:g.112212236_112212243dup, NW_003871062.1:g.209758_209764del, NW_003871062.1:g.209761_209764del, NW_003871062.1:g.209762_209764del, NW_003871062.1:g.209763_209764del, NW_003871062.1:g.209764del, NW_003871062.1:g.209764dup, NW_003871062.1:g.209763_209764dup, NW_003871062.1:g.209761_209764dup, NW_003871062.1:g.209757_209764dup, NG_008209.1:g.47395_47401del, NG_008209.1:g.47398_47401del, NG_008209.1:g.47399_47401del, NG_008209.1:g.47400_47401del, NG_008209.1:g.47401del, NG_008209.1:g.47401dup, NG_008209.1:g.47400_47401dup, NG_008209.1:g.47398_47401dup, NG_008209.1:g.47394_47401dup, NC_000006.11:g.112533438_112533444del, NC_000006.11:g.112533441_112533444del, NC_000006.11:g.112533442_112533444del, NC_000006.11:g.112533443_112533444del, NC_000006.11:g.112533444del, NC_000006.11:g.112533444dup, NC_000006.11:g.112533443_112533444dup, NC_000006.11:g.112533441_112533444dup, NC_000006.11:g.112533437_112533444dup

Select item 149129656019.

rs1491296560 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:112190939 (GRCh38)
6:112512141 (GRCh37)
Canonical SPDI:: NC_000006.12:112190937:TCT:T
Gene:: LAMA4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000006.12:g.112190939_112190940del, NW_003871062.1:g.188460_188461del, NG_008209.1:g.68688_68689del, NC_000006.11:g.112512141_112512142del

Select item 149125553620.

rs1491255536 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:112256186 (GRCh38)
6:112577388 (GRCh37)
Canonical SPDI:: NC_000006.12:112256185:CA:
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.112256186_112256187del, NC_000006.11:g.112577388_112577389del, NG_008209.1:g.3440_3441del, NW_003871062.1:g.253707_253708del

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