SNP Links for Gene (Select 222229) - SNP

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Select item 14915870071.

rs1491587007 has merged into rs1157897255 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 7:102467170 (GRCh38)
7:102107617 (GRCh37)
Canonical SPDI:: NC_000007.14:102467168:GGGG:G,NC_000007.14:102467168:GGGG:GG,NC_000007.14:102467168:GGGG:GGG,NC_000007.14:102467168:GGGG:GGGGG,NC_000007.14:102467168:GGGG:GGGGGG,NC_000007.14:102467168:GGGG:GGGGGGG,NC_000007.14:102467168:GGGG:GGGGGGGG,NC_000007.14:102467168:GGGG:GGGGGGGGG,NC_000007.14:102467168:GGGG:GGGGGGGGGGG
Gene:: LRWD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
GGGGGGG=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102467170_102467172del, NC_000007.14:g.102467171_102467172del, NC_000007.14:g.102467172del, NC_000007.14:g.102467172dup, NC_000007.14:g.102467171_102467172dup, NC_000007.14:g.102467170_102467172dup, NC_000007.14:g.102467169_102467172dup, NC_000007.14:g.102467172_102467173insGGGGG, NC_000007.14:g.102467172_102467173insGGGGGGG, NC_000007.13:g.102107617_102107619del, NC_000007.13:g.102107618_102107619del, NC_000007.13:g.102107619del, NC_000007.13:g.102107619dup, NC_000007.13:g.102107618_102107619dup, NC_000007.13:g.102107617_102107619dup, NC_000007.13:g.102107616_102107619dup, NC_000007.13:g.102107619_102107620insGGGGG, NC_000007.13:g.102107619_102107620insGGGGGGG

Select item 14915823052.

rs1491582305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG [Show Flanks]
Chromosome:: 7:102467116 (GRCh38)
7:102107564 (GRCh37)
Canonical SPDI:: NC_000007.14:102467116:G:GTG,NC_000007.14:102467116:G:GTGTG,NC_000007.14:102467116:G:GTGTGTG,NC_000007.14:102467116:G:GTGTGTGTGTG,NC_000007.14:102467116:G:GTGTGTGTGTGTG
Gene:: LRWD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTG=0./0 (ALFA)
HGVS:: NC_000007.14:g.102467117_102467118insTG, NC_000007.14:g.102467117_102467118insTGTG, NC_000007.14:g.102467118TG[3], NC_000007.14:g.102467118TG[5], NC_000007.14:g.102467118TG[6], NC_000007.13:g.102107564_102107565insTG, NC_000007.13:g.102107564_102107565insTGTG, NC_000007.13:g.102107565TG[3], NC_000007.13:g.102107565TG[5], NC_000007.13:g.102107565TG[6]

Select item 14914235953.

rs1491423595 has merged into rs1391801859 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 7:102467118 (GRCh38)
7:102107565 (GRCh37)
Canonical SPDI:: NC_000007.14:102467115:GGGG:GG,NC_000007.14:102467115:GGGG:GGGGGG
Gene:: LRWD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
GG=0.00007/1 (TOMMO)
HGVS:: NC_000007.14:g.102467118_102467119del, NC_000007.14:g.102467118_102467119dup, NC_000007.13:g.102107565_102107566del, NC_000007.13:g.102107565_102107566dup

Select item 14911448414.

rs1491144841 has merged into rs1209487514 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:102467188 (GRCh38)
7:102107635 (GRCh37)
Canonical SPDI:: NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102467171:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LRWD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102467172GT[8], NC_000007.14:g.102467172GT[9], NC_000007.14:g.102467172GT[10], NC_000007.14:g.102467172GT[11], NC_000007.14:g.102467172GT[12], NC_000007.14:g.102467172GT[13], NC_000007.14:g.102467172GT[14], NC_000007.14:g.102467172GT[15], NC_000007.14:g.102467172GT[16], NC_000007.14:g.102467172GT[17], NC_000007.14:g.102467172GT[18], NC_000007.14:g.102467172GT[19], NC_000007.14:g.102467172GT[20], NC_000007.14:g.102467172GT[21], NC_000007.14:g.102467172GT[23], NC_000007.14:g.102467172GT[24], NC_000007.14:g.102467172GT[25], NC_000007.14:g.102467172GT[26], NC_000007.14:g.102467172GT[27], NC_000007.14:g.102467172GT[28], NC_000007.14:g.102467172GT[29], NC_000007.14:g.102467172GT[30], NC_000007.14:g.102467172GT[31], NC_000007.14:g.102467172GT[33], NC_000007.14:g.102467172GT[36], NC_000007.13:g.102107619GT[8], NC_000007.13:g.102107619GT[9], NC_000007.13:g.102107619GT[10], NC_000007.13:g.102107619GT[11], NC_000007.13:g.102107619GT[12], NC_000007.13:g.102107619GT[13], NC_000007.13:g.102107619GT[14], NC_000007.13:g.102107619GT[15], NC_000007.13:g.102107619GT[16], NC_000007.13:g.102107619GT[17], NC_000007.13:g.102107619GT[18], NC_000007.13:g.102107619GT[19], NC_000007.13:g.102107619GT[20], NC_000007.13:g.102107619GT[21], NC_000007.13:g.102107619GT[23], NC_000007.13:g.102107619GT[24], NC_000007.13:g.102107619GT[25], NC_000007.13:g.102107619GT[26], NC_000007.13:g.102107619GT[27], NC_000007.13:g.102107619GT[28], NC_000007.13:g.102107619GT[29], NC_000007.13:g.102107619GT[30], NC_000007.13:g.102107619GT[31], NC_000007.13:g.102107619GT[33], NC_000007.13:g.102107619GT[36]

Select item 14911306435.

rs1491130643 has merged into rs1391801859 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 7:102467118 (GRCh38)
7:102107565 (GRCh37)
Canonical SPDI:: NC_000007.14:102467115:GGGG:GG,NC_000007.14:102467115:GGGG:GGGGGG
Gene:: LRWD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
GG=0.00007/1 (TOMMO)
HGVS:: NC_000007.14:g.102467118_102467119del, NC_000007.14:g.102467118_102467119dup, NC_000007.13:g.102107565_102107566del, NC_000007.13:g.102107565_102107566dup

Select item 14910621276.

rs1491062127 has merged into rs61229695 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 7:102473120 (GRCh38)
7:102113567 (GRCh37)
Canonical SPDI:: NC_000007.14:102473116:GGGGGGGGG:GGG,NC_000007.14:102473116:GGGGGGGGG:GGGGGGG,NC_000007.14:102473116:GGGGGGGGG:GGGGGGGG,NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGG,NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGG,NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGG,NC_000007.14:102473116:GGGGGGGGG:GGGGGGGGGGGGG
Gene:: POLR2J (Varview), LRWD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.0048/12 (1000Genomes)
G=0.2705/1003 (TWINSUK)
G=0.2865/1104 (ALSPAC)
G=0.2896/289 (GoNL)
G=0.4042/1798 (Estonian)
G=0.425/17 (GENOME_DK)
HGVS:: NC_000007.14:g.102473120_102473125del, NC_000007.14:g.102473124_102473125del, NC_000007.14:g.102473125del, NC_000007.14:g.102473125dup, NC_000007.14:g.102473124_102473125dup, NC_000007.14:g.102473123_102473125dup, NC_000007.14:g.102473122_102473125dup, NC_000007.13:g.102113567_102113572del, NC_000007.13:g.102113571_102113572del, NC_000007.13:g.102113572del, NC_000007.13:g.102113572dup, NC_000007.13:g.102113571_102113572dup, NC_000007.13:g.102113570_102113572dup, NC_000007.13:g.102113569_102113572dup, NM_006234.5:c.*527_*532del, NM_006234.5:c.*531_*532del, NM_006234.5:c.*532del, NM_006234.5:c.*532dup, NM_006234.5:c.*531_*532dup, NM_006234.5:c.*530_*532dup, NM_006234.5:c.*529_*532dup, NM_006234.4:c.*527_*532del, NM_006234.4:c.*531_*532del, NM_006234.4:c.*532del, NM_006234.4:c.*532dup, NM_006234.4:c.*531_*532dup, NM_006234.4:c.*530_*532dup, NM_006234.4:c.*529_*532dup, NM_152892.3:c.*71_*76del, NM_152892.3:c.*75_*76del, NM_152892.3:c.*76del, NM_152892.3:c.*76dup, NM_152892.3:c.*75_*76dup, NM_152892.3:c.*74_*76dup, NM_152892.3:c.*73_*76dup, NM_152892.2:c.*71_*76del, NM_152892.2:c.*75_*76del, NM_152892.2:c.*76del, NM_152892.2:c.*76dup, NM_152892.2:c.*75_*76dup, NM_152892.2:c.*74_*76dup, NM_152892.2:c.*73_*76dup, NM_152892.1:c.*71_*76del, NM_152892.1:c.*75_*76del, NM_152892.1:c.*76del, NM_152892.1:c.*76dup, NM_152892.1:c.*75_*76dup, NM_152892.1:c.*74_*76dup, NM_152892.1:c.*73_*76dup, NM_001317721.2:c.*71_*76del, NM_001317721.2:c.*75_*76del, NM_001317721.2:c.*76del, NM_001317721.2:c.*76dup, NM_001317721.2:c.*75_*76dup, NM_001317721.2:c.*74_*76dup, NM_001317721.2:c.*73_*76dup, NM_001317721.1:c.*71_*76del, NM_001317721.1:c.*75_*76del, NM_001317721.1:c.*76del, NM_001317721.1:c.*76dup, NM_001317721.1:c.*75_*76dup, NM_001317721.1:c.*74_*76dup, NM_001317721.1:c.*73_*76dup

Select item 14910257417.

rs1491025741 has merged into rs71106683 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:102463331 (GRCh38)
7:102103778 (GRCh37)
Canonical SPDI:: NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102463322:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ALKBH4 (Varview), LRWD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102463331_102463347del, NC_000007.14:g.102463334_102463347del, NC_000007.14:g.102463335_102463347del, NC_000007.14:g.102463336_102463347del, NC_000007.14:g.102463337_102463347del, NC_000007.14:g.102463338_102463347del, NC_000007.14:g.102463339_102463347del, NC_000007.14:g.102463340_102463347del, NC_000007.14:g.102463341_102463347del, NC_000007.14:g.102463342_102463347del, NC_000007.14:g.102463343_102463347del, NC_000007.14:g.102463344_102463347del, NC_000007.14:g.102463345_102463347del, NC_000007.14:g.102463346_102463347del, NC_000007.14:g.102463347del, NC_000007.14:g.102463347dup, NC_000007.14:g.102463346_102463347dup, NC_000007.14:g.102463345_102463347dup, NC_000007.14:g.102463344_102463347dup, NC_000007.14:g.102463343_102463347dup, NC_000007.14:g.102463342_102463347dup, NC_000007.14:g.102463341_102463347dup, NC_000007.14:g.102463340_102463347dup, NC_000007.14:g.102463339_102463347dup, NC_000007.14:g.102463335_102463347dup, NC_000007.14:g.102463329_102463347dup, NC_000007.14:g.102463327_102463347dup, NC_000007.14:g.102463347_102463348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.102103778_102103794del, NC_000007.13:g.102103781_102103794del, NC_000007.13:g.102103782_102103794del, NC_000007.13:g.102103783_102103794del, NC_000007.13:g.102103784_102103794del, NC_000007.13:g.102103785_102103794del, NC_000007.13:g.102103786_102103794del, NC_000007.13:g.102103787_102103794del, NC_000007.13:g.102103788_102103794del, NC_000007.13:g.102103789_102103794del, NC_000007.13:g.102103790_102103794del, NC_000007.13:g.102103791_102103794del, NC_000007.13:g.102103792_102103794del, NC_000007.13:g.102103793_102103794del, NC_000007.13:g.102103794del, NC_000007.13:g.102103794dup, NC_000007.13:g.102103793_102103794dup, NC_000007.13:g.102103792_102103794dup, NC_000007.13:g.102103791_102103794dup, NC_000007.13:g.102103790_102103794dup, NC_000007.13:g.102103789_102103794dup, NC_000007.13:g.102103788_102103794dup, NC_000007.13:g.102103787_102103794dup, NC_000007.13:g.102103786_102103794dup, NC_000007.13:g.102103782_102103794dup, NC_000007.13:g.102103776_102103794dup, NC_000007.13:g.102103774_102103794dup, NC_000007.13:g.102103794_102103795insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908372238.

rs1490837223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102463248 (GRCh38)
7:102103695 (GRCh37)
Canonical SPDI:: NC_000007.14:102463247:G:A
Gene:: ALKBH4 (Varview), LRWD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.102463248G>A, NC_000007.13:g.102103695G>A

Select item 14907647449.

rs1490764744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:102471047 (GRCh38)
7:102111495 (GRCh37)
Canonical SPDI:: NC_000007.14:102471047:T:TT
Gene:: LRWD1 (Varview), MIR4467 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.102471048dup, NC_000007.13:g.102111495dup

Select item 149075299010.

rs1490752990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:102473270 (GRCh38)
7:102113717 (GRCh37)
Canonical SPDI:: NC_000007.14:102473269:G:A,NC_000007.14:102473269:G:C
Gene:: POLR2J (Varview), LRWD1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102473270G>A, NC_000007.14:g.102473270G>C, NC_000007.13:g.102113717G>A, NC_000007.13:g.102113717G>C, NM_006234.6:c.*379C>T, NM_006234.6:c.*379C>G, NM_006234.5:c.*379C>T, NM_006234.5:c.*379C>G, NM_006234.4:c.*379C>T, NM_006234.4:c.*379C>G, XM_017012353.2:c.*379C>T, XM_017012353.2:c.*379C>G, NM_001393919.1:c.*929C>T, NM_001393919.1:c.*929C>G, NR_163857.1:n.824C>T, NR_163857.1:n.824C>G, NM_001371100.1:c.*379C>T, NM_001371100.1:c.*379C>G

Select item 149071821811.

rs1490718218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102468655 (GRCh38)
7:102109102 (GRCh37)
Canonical SPDI:: NC_000007.14:102468654:G:A
Gene:: LRWD1 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102468655G>A, NC_000007.13:g.102109102G>A

Select item 149034183012.

rs1490341830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102467797 (GRCh38)
7:102108244 (GRCh37)
Canonical SPDI:: NC_000007.14:102467796:G:A
Gene:: LRWD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.102467797G>A, NC_000007.13:g.102108244G>A, NM_152892.3:c.652G>A, NM_152892.2:c.652G>A, NM_152892.1:c.652G>A, NM_001317721.2:c.196G>A, NM_001317721.1:c.196G>A, NP_690852.1:p.Glu218Lys, NP_001304650.1:p.Glu66Lys

Select item 149023777013.

rs1490237770 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:102473118 (GRCh38)
7:102113566 (GRCh37)
Canonical SPDI:: NC_000007.14:102473118::C
Gene:: POLR2J (Varview), LRWD1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000109/3 (GnomAD)
HGVS:: NC_000007.14:g.102473118_102473119insC, NC_000007.13:g.102113565_102113566insC, NM_006234.5:c.*530_*531insG, NM_006234.4:c.*530_*531insG, NM_152892.3:c.*69_*70insC, NM_152892.2:c.*69_*70insC, NM_152892.1:c.*69_*70insC, NM_001317721.2:c.*69_*70insC, NM_001317721.1:c.*69_*70insC

Select item 149023125714.

rs1490231257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102468414 (GRCh38)
7:102108861 (GRCh37)
Canonical SPDI:: NC_000007.14:102468413:G:A
Gene:: LRWD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.102468414G>A, NC_000007.13:g.102108861G>A

Select item 149012694215.

rs1490126942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102467813 (GRCh38)
7:102108260 (GRCh37)
Canonical SPDI:: NC_000007.14:102467812:A:C
Gene:: LRWD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.102467813A>C, NC_000007.13:g.102108260A>C, NM_152892.3:c.668A>C, NM_152892.2:c.668A>C, NM_152892.1:c.668A>C, NM_001317721.2:c.212A>C, NM_001317721.1:c.212A>C, NP_690852.1:p.His223Pro, NP_001304650.1:p.His71Pro

Select item 148995074016.

rs1489950740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:102470451 (GRCh38)
7:102110898 (GRCh37)
Canonical SPDI:: NC_000007.14:102470450:C:G,NC_000007.14:102470450:C:T
Gene:: LRWD1 (Varview), MIR4467 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000216/4 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000007.14:g.102470451C>G, NC_000007.14:g.102470451C>T, NC_000007.13:g.102110898C>G, NC_000007.13:g.102110898C>T

Select item 148975547717.

rs1489755477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102472766 (GRCh38)
7:102113213 (GRCh37)
Canonical SPDI:: NC_000007.14:102472765:C:T
Gene:: POLR2J (Varview), LRWD1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.102472766C>T, NC_000007.13:g.102113213C>T, NM_152892.3:c.1765C>T, NM_152892.2:c.1765C>T, NM_152892.1:c.1765C>T, NM_001317721.2:c.1309C>T, NM_001317721.1:c.1309C>T, NP_690852.1:p.Pro589Ser, NP_001304650.1:p.Pro437Ser

Select item 148893125318.

rs1488931253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:102464081 (GRCh38)
7:102104528 (GRCh37)
Canonical SPDI:: NC_000007.14:102464080:G:C
Gene:: ALKBH4 (Varview), LRWD1 (Varview), MIR5090 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.102464081G>C, NC_000007.13:g.102104528G>C

Select item 148890822319.

rs1488908223 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:102472802 (GRCh38)
7:102113249 (GRCh37)
Canonical SPDI:: NC_000007.14:102472797:CACACA:CACA
Gene:: POLR2J (Varview), LRWD1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000007.14:g.102472798CA[2], NC_000007.13:g.102113245CA[2], NM_152892.3:c.1801_1802del, NM_152892.2:c.1801_1802del, NM_152892.1:c.1801_1802del, NM_001317721.2:c.1345_1346del, NM_001317721.1:c.1345_1346del, NP_690852.1:p.Gln601fs, NP_001304650.1:p.Gln449fs

Select item 148867345120.

rs1488673451 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:102471511 (GRCh38)
7:102111958 (GRCh37)
Canonical SPDI:: NC_000007.14:102471510:CCCC:CCC
Gene:: LRWD1 (Varview), MIR4467 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.102471514del, NC_000007.13:g.102111961del, NR_039677.1:n.46del

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