SNP Links for Gene (Select 56978) - SNP

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Select item 14914868821.

rs1491486882 has merged into rs34334135 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:80199723 (GRCh38)
4:81120877 (GRCh37)
Canonical SPDI:: NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:80199709:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TGTG=0.10768/415 (ALSPAC)
TGTG=0.117314/435 (TWINSUK)
-=0.375/3 (KOREAN)
HGVS:: NC_000004.12:g.80199711GT[6], NC_000004.12:g.80199711GT[7], NC_000004.12:g.80199711GT[8], NC_000004.12:g.80199711GT[9], NC_000004.12:g.80199711GT[10], NC_000004.12:g.80199711GT[11], NC_000004.12:g.80199711GT[12], NC_000004.12:g.80199711GT[13], NC_000004.12:g.80199711GT[15], NC_000004.12:g.80199711GT[16], NC_000004.12:g.80199711GT[17], NC_000004.12:g.80199711GT[18], NC_000004.12:g.80199711GT[19], NC_000004.12:g.80199711GT[20], NC_000004.12:g.80199711GT[21], NC_000004.12:g.80199711GT[22], NC_000004.12:g.80199711GT[23], NC_000004.12:g.80199711GT[24], NC_000004.12:g.80199711GT[25], NC_000004.12:g.80199711GT[26], NC_000004.12:g.80199711GT[27], NC_000004.12:g.80199711GT[28], NC_000004.11:g.81120865GT[6], NC_000004.11:g.81120865GT[7], NC_000004.11:g.81120865GT[8], NC_000004.11:g.81120865GT[9], NC_000004.11:g.81120865GT[10], NC_000004.11:g.81120865GT[11], NC_000004.11:g.81120865GT[12], NC_000004.11:g.81120865GT[13], NC_000004.11:g.81120865GT[15], NC_000004.11:g.81120865GT[16], NC_000004.11:g.81120865GT[17], NC_000004.11:g.81120865GT[18], NC_000004.11:g.81120865GT[19], NC_000004.11:g.81120865GT[20], NC_000004.11:g.81120865GT[21], NC_000004.11:g.81120865GT[22], NC_000004.11:g.81120865GT[23], NC_000004.11:g.81120865GT[24], NC_000004.11:g.81120865GT[25], NC_000004.11:g.81120865GT[26], NC_000004.11:g.81120865GT[27], NC_000004.11:g.81120865GT[28], NG_046725.1:g.19442GT[6], NG_046725.1:g.19442GT[7], NG_046725.1:g.19442GT[8], NG_046725.1:g.19442GT[9], NG_046725.1:g.19442GT[10], NG_046725.1:g.19442GT[11], NG_046725.1:g.19442GT[12], NG_046725.1:g.19442GT[13], NG_046725.1:g.19442GT[15], NG_046725.1:g.19442GT[16], NG_046725.1:g.19442GT[17], NG_046725.1:g.19442GT[18], NG_046725.1:g.19442GT[19], NG_046725.1:g.19442GT[20], NG_046725.1:g.19442GT[21], NG_046725.1:g.19442GT[22], NG_046725.1:g.19442GT[23], NG_046725.1:g.19442GT[24], NG_046725.1:g.19442GT[25], NG_046725.1:g.19442GT[26], NG_046725.1:g.19442GT[27], NG_046725.1:g.19442GT[28]

Select item 14914114952.

rs1491411495 has merged into rs1413112507 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:80198983 (GRCh38)
4:81120137 (GRCh37)
Canonical SPDI:: NC_000004.12:80198980:TTTTTTTTTTTTT:TT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:80198980:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00096/25 (TOMMO)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00523/3 (NorthernSweden)
HGVS:: NC_000004.12:g.80198983_80198993del, NC_000004.12:g.80198984_80198993del, NC_000004.12:g.80198987_80198993del, NC_000004.12:g.80198990_80198993del, NC_000004.12:g.80198991_80198993del, NC_000004.12:g.80198992_80198993del, NC_000004.12:g.80198993del, NC_000004.12:g.80198993dup, NC_000004.12:g.80198992_80198993dup, NC_000004.12:g.80198991_80198993dup, NC_000004.12:g.80198990_80198993dup, NC_000004.12:g.80198989_80198993dup, NC_000004.12:g.80198988_80198993dup, NC_000004.12:g.80198987_80198993dup, NC_000004.12:g.80198986_80198993dup, NC_000004.12:g.80198985_80198993dup, NC_000004.12:g.80198984_80198993dup, NC_000004.12:g.80198983_80198993dup, NC_000004.12:g.80198982_80198993dup, NC_000004.12:g.80198981_80198993dup, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.80198993_80198994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.81120137_81120147del, NC_000004.11:g.81120138_81120147del, NC_000004.11:g.81120141_81120147del, NC_000004.11:g.81120144_81120147del, NC_000004.11:g.81120145_81120147del, NC_000004.11:g.81120146_81120147del, NC_000004.11:g.81120147del, NC_000004.11:g.81120147dup, NC_000004.11:g.81120146_81120147dup, NC_000004.11:g.81120145_81120147dup, NC_000004.11:g.81120144_81120147dup, NC_000004.11:g.81120143_81120147dup, NC_000004.11:g.81120142_81120147dup, NC_000004.11:g.81120141_81120147dup, NC_000004.11:g.81120140_81120147dup, NC_000004.11:g.81120139_81120147dup, NC_000004.11:g.81120138_81120147dup, NC_000004.11:g.81120137_81120147dup, NC_000004.11:g.81120136_81120147dup, NC_000004.11:g.81120135_81120147dup, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.81120147_81120148insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046725.1:g.18714_18724del, NG_046725.1:g.18715_18724del, NG_046725.1:g.18718_18724del, NG_046725.1:g.18721_18724del, NG_046725.1:g.18722_18724del, NG_046725.1:g.18723_18724del, NG_046725.1:g.18724del, NG_046725.1:g.18724dup, NG_046725.1:g.18723_18724dup, NG_046725.1:g.18722_18724dup, NG_046725.1:g.18721_18724dup, NG_046725.1:g.18720_18724dup, NG_046725.1:g.18719_18724dup, NG_046725.1:g.18718_18724dup, NG_046725.1:g.18717_18724dup, NG_046725.1:g.18716_18724dup, NG_046725.1:g.18715_18724dup, NG_046725.1:g.18714_18724dup, NG_046725.1:g.18713_18724dup, NG_046725.1:g.18712_18724dup, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046725.1:g.18724_18725insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913255833.

rs1491325583 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:80186457 (GRCh38)
4:81107611 (GRCh37)
Canonical SPDI:: NC_000004.12:80186456:TT:
Gene:: PRDM8 (Varview), PRDM8-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003001/49 (ALFA)
-=0.000625/4 (1000Genomes)
-=0.000885/15 (TOMMO)
-=0.002735/373 (GnomAD)
HGVS:: NC_000004.12:g.80186457_80186458del, NC_000004.11:g.81107611_81107612del, NG_046725.1:g.6188_6189del

Select item 14913183364.

rs1491318336 [Homo sapiens]

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

Select item 14912262415.

rs1491226241 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:80198980 (GRCh38)
4:81120134 (GRCh37)
Canonical SPDI:: NC_000004.12:80198979:GT:
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.80198980_80198981del, NC_000004.11:g.81120134_81120135del, NG_046725.1:g.18711_18712del

Select item 14911218946.

rs1491121894 has merged into rs1234830907 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 4:80187246 (GRCh38)
4:81108400 (GRCh37)
Canonical SPDI:: NC_000004.12:80187244:GGGG:G,NC_000004.12:80187244:GGGG:GGG,NC_000004.12:80187244:GGGG:GGGGG,NC_000004.12:80187244:GGGG:GGGGGG,NC_000004.12:80187244:GGGG:GGGGGGG,NC_000004.12:80187244:GGGG:GGGGGGGG,NC_000004.12:80187244:GGGG:GGGGGGGGG
Gene:: PRDM8 (Varview), PRDM8-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00096/12 (TOMMO)
HGVS:: NC_000004.12:g.80187246_80187248del, NC_000004.12:g.80187248del, NC_000004.12:g.80187248dup, NC_000004.12:g.80187247_80187248dup, NC_000004.12:g.80187246_80187248dup, NC_000004.12:g.80187245_80187248dup, NC_000004.12:g.80187248_80187249insGGGGG, NC_000004.11:g.81108400_81108402del, NC_000004.11:g.81108402del, NC_000004.11:g.81108402dup, NC_000004.11:g.81108401_81108402dup, NC_000004.11:g.81108400_81108402dup, NC_000004.11:g.81108399_81108402dup, NC_000004.11:g.81108402_81108403insGGGGG, NG_046725.1:g.6977_6979del, NG_046725.1:g.6979del, NG_046725.1:g.6979dup, NG_046725.1:g.6978_6979dup, NG_046725.1:g.6977_6979dup, NG_046725.1:g.6976_6979dup, NG_046725.1:g.6979_6980insGGGGG

Select item 14911145067.

rs1491114506 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATCTCTCTCTCTCTCTCTCTC [Show Flanks]
Chromosome:: 4:80186457 (GRCh38)
4:81107612 (GRCh37)
Canonical SPDI:: NC_000004.12:80186457::ATCTCTCTCTCTCTCTCTCTC
Gene:: PRDM8 (Varview), PRDM8-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.80186457_80186458insATCTCTCTCTCTCTCTCTCTC, NC_000004.11:g.81107611_81107612insATCTCTCTCTCTCTCTCTCTC, NG_046725.1:g.6188_6189insATCTCTCTCTCTCTCTCTCTC

Select item 14910321968.

rs1491032196 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 4:80198993 (GRCh38)
4:81120148 (GRCh37)
Canonical SPDI:: NC_000004.12:80198993::TG
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.80198993_80198994insTG, NC_000004.11:g.81120147_81120148insTG, NG_046725.1:g.18724_18725insTG

Select item 14910227449.

rs1491022744 has merged into rs1553904276 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 4:80195944 (GRCh38)
4:81117098 (GRCh37)
Canonical SPDI:: NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000004.12:g.80195930GA[7], NC_000004.12:g.80195930GA[9], NC_000004.12:g.80195930GA[10], NC_000004.12:g.80195930GA[11], NC_000004.12:g.80195930GA[12], NC_000004.12:g.80195930GA[13], NC_000004.12:g.80195930GA[14], NC_000004.12:g.80195930GA[16], NC_000004.12:g.80195930GA[17], NC_000004.12:g.80195930GA[18], NC_000004.12:g.80195930GA[19], NC_000004.12:g.80195930GA[20], NC_000004.12:g.80195930GA[21], NC_000004.12:g.80195930GA[22], NC_000004.12:g.80195930GA[23], NC_000004.12:g.80195930GA[24], NC_000004.12:g.80195930GA[25], NC_000004.12:g.80195930GA[26], NC_000004.12:g.80195930GA[27], NC_000004.12:g.80195930GA[28], NC_000004.11:g.81117084GA[7], NC_000004.11:g.81117084GA[9], NC_000004.11:g.81117084GA[10], NC_000004.11:g.81117084GA[11], NC_000004.11:g.81117084GA[12], NC_000004.11:g.81117084GA[13], NC_000004.11:g.81117084GA[14], NC_000004.11:g.81117084GA[16], NC_000004.11:g.81117084GA[17], NC_000004.11:g.81117084GA[18], NC_000004.11:g.81117084GA[19], NC_000004.11:g.81117084GA[20], NC_000004.11:g.81117084GA[21], NC_000004.11:g.81117084GA[22], NC_000004.11:g.81117084GA[23], NC_000004.11:g.81117084GA[24], NC_000004.11:g.81117084GA[25], NC_000004.11:g.81117084GA[26], NC_000004.11:g.81117084GA[27], NC_000004.11:g.81117084GA[28], NG_046725.1:g.15661GA[7], NG_046725.1:g.15661GA[9], NG_046725.1:g.15661GA[10], NG_046725.1:g.15661GA[11], NG_046725.1:g.15661GA[12], NG_046725.1:g.15661GA[13], NG_046725.1:g.15661GA[14], NG_046725.1:g.15661GA[16], NG_046725.1:g.15661GA[17], NG_046725.1:g.15661GA[18], NG_046725.1:g.15661GA[19], NG_046725.1:g.15661GA[20], NG_046725.1:g.15661GA[21], NG_046725.1:g.15661GA[22], NG_046725.1:g.15661GA[23], NG_046725.1:g.15661GA[24], NG_046725.1:g.15661GA[25], NG_046725.1:g.15661GA[26], NG_046725.1:g.15661GA[27], NG_046725.1:g.15661GA[28]

Select item 149101754710.

rs1491017547 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:80198994 (GRCh38)
4:81120148 (GRCh37)
Canonical SPDI:: NC_000004.12:80198992:TGT:T
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
-=0.00168/155 (GnomAD)
-=0.00267/45 (TOMMO)
HGVS:: NC_000004.12:g.80198994_80198995del, NC_000004.11:g.81120148_81120149del, NG_046725.1:g.18725_18726del

Select item 149090537711.

rs1490905377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:80194418 (GRCh38)
4:81115572 (GRCh37)
Canonical SPDI:: NC_000004.12:80194417:T:C
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.80194418T>C, NC_000004.11:g.81115572T>C, NG_046725.1:g.14149T>C

Select item 149075277312.

rs1490752773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:80203259 (GRCh38)
4:81124413 (GRCh37)
Canonical SPDI:: NC_000004.12:80203258:G:A,NC_000004.12:80203258:G:T
Gene:: PRDM8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00004/1 (ALFA)
HGVS:: NC_000004.12:g.80203259G>A, NC_000004.12:g.80203259G>T, NC_000004.11:g.81124413G>A, NC_000004.11:g.81124413G>T, NG_046725.1:g.22990G>A, NG_046725.1:g.22990G>T, NM_020226.4:c.1797G>A, NM_020226.4:c.1797G>T, NM_020226.3:c.1797G>A, NM_020226.3:c.1797G>T, NM_001099403.2:c.1797G>A, NM_001099403.2:c.1797G>T, NM_001099403.1:c.1797G>A, NM_001099403.1:c.1797G>T

Select item 149063696513.

rs1490636965 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 4:80187249 (GRCh38)
4:81108403 (GRCh37)
Canonical SPDI:: NC_000004.12:80187248:C:
Gene:: PRDM8 (Varview), PRDM8-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000004.12:g.80187249del, NC_000004.11:g.81108403del, NG_046725.1:g.6980del

Select item 149061881814.

rs1490618818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:80200626 (GRCh38)
4:81121780 (GRCh37)
Canonical SPDI:: NC_000004.12:80200625:C:T
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.80200626C>T, NC_000004.11:g.81121780C>T, NG_046725.1:g.20357C>T

Select item 149060313515.

rs1490603135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:80201770 (GRCh38)
4:81122924 (GRCh37)
Canonical SPDI:: NC_000004.12:80201769:G:A
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.80201770G>A, NC_000004.11:g.81122924G>A, NG_046725.1:g.21501G>A, NG_083415.1:g.1047G>A

Select item 149042061816.

rs1490420618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:80196742 (GRCh38)
4:81117896 (GRCh37)
Canonical SPDI:: NC_000004.12:80196741:A:C,NC_000004.12:80196741:A:G
Gene:: PRDM8 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.001203/20 (TOMMO)
G=0.003082/9 (KOREAN)
HGVS:: NC_000004.12:g.80196742A>C, NC_000004.12:g.80196742A>G, NC_000004.11:g.81117896A>C, NC_000004.11:g.81117896A>G, NG_046725.1:g.16473A>C, NG_046725.1:g.16473A>G

Select item 149025893117.

rs1490258931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:80203067 (GRCh38)
4:81124221 (GRCh37)
Canonical SPDI:: NC_000004.12:80203066:C:T
Gene:: PRDM8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.80203067C>T, NC_000004.11:g.81124221C>T, NG_046725.1:g.22798C>T, NM_020226.4:c.1605C>T, NM_020226.3:c.1605C>T, NM_001099403.2:c.1605C>T, NM_001099403.1:c.1605C>T

Select item 148992650218.

rs1489926502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:80193450 (GRCh38)
4:81114604 (GRCh37)
Canonical SPDI:: NC_000004.12:80193449:C:A,NC_000004.12:80193449:C:T
Gene:: PRDM8 (Varview), PRDM8-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.80193450C>A, NC_000004.12:g.80193450C>T, NC_000004.11:g.81114604C>A, NC_000004.11:g.81114604C>T, NG_046725.1:g.13181C>A, NG_046725.1:g.13181C>T

Select item 148981909119.

rs1489819091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:80192364 (GRCh38)
4:81113518 (GRCh37)
Canonical SPDI:: NC_000004.12:80192363:C:G,NC_000004.12:80192363:C:T
Gene:: PRDM8 (Varview), PRDM8-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.80192364C>G, NC_000004.12:g.80192364C>T, NC_000004.11:g.81113518C>G, NC_000004.11:g.81113518C>T, NG_046725.1:g.12095C>G, NG_046725.1:g.12095C>T

Select item 148961197820.

rs1489611978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:80203221 (GRCh38)
4:81124375 (GRCh37)
Canonical SPDI:: NC_000004.12:80203220:G:C
Gene:: PRDM8 (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=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.80203221G>C, NC_000004.11:g.81124375G>C, NG_046725.1:g.22952G>C, NM_020226.4:c.1759G>C, NM_020226.3:c.1759G>C, NM_001099403.2:c.1759G>C, NM_001099403.1:c.1759G>C, NP_064611.3:p.Ala587Pro, NP_001092873.1:p.Ala587Pro

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