SNP Links for Gene (Select 170690) - SNP

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Select item 14915142741.

rs1491514274 has merged into rs56041596 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATGTGGTATATATATATAT,ATATATATATATATATATATATGTGGTATATATATATAT,ATATATATATATGTGGTATATATATATAT,ATATATATATATGTGGTATATATATATATGTGGTATATATATATAT [Show Flanks]
Chromosome:: 5:5215719 (GRCh38)
5:5215832 (GRCh37)
Canonical SPDI:: NC_000005.10:5215717:TATATATATAT:T,NC_000005.10:5215717:TATATATATAT:TATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATATATATATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATATATATATATATATGTGGTATATATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATATATATATATATGTGGTATATATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATATGTGGTATATATATATAT,NC_000005.10:5215717:TATATATATAT:TATATATATATATGTGGTATATATATATATGTGGTATATATATATAT
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.225/9 (GENOME_DK)
TA=0.2967/178 (NorthernSweden)
-=0.3619/76 (Vietnamese)
TA=0.4265/2136 (1000Genomes)
HGVS:: NC_000005.10:g.5215719_5215728del, NC_000005.10:g.5215719AT[4], NC_000005.10:g.5215719AT[6], NC_000005.10:g.5215719AT[7], NC_000005.10:g.5215719AT[12], NC_000005.10:g.5215718_5215728TA[12]TG[2]GTATATATATATAT[1], NC_000005.10:g.5215718_5215728TA[11]TG[2]GTATATATATATAT[1], NC_000005.10:g.5215718_5215728TA[6]TG[2]GTATATATATATAT[1], NC_000005.10:g.5215718_5215728TATATATATATATGTGG[2]TA[6]T[1], NC_000005.9:g.5215832_5215841del, NC_000005.9:g.5215832AT[4], NC_000005.9:g.5215832AT[6], NC_000005.9:g.5215832AT[7], NC_000005.9:g.5215832AT[12], NC_000005.9:g.5215831_5215841TA[12]TG[2]GTATATATATATAT[1], NC_000005.9:g.5215831_5215841TA[11]TG[2]GTATATATATATAT[1], NC_000005.9:g.5215831_5215841TA[6]TG[2]GTATATATATATAT[1], NC_000005.9:g.5215831_5215841TATATATATATATGTGG[2]TA[6]T[1]

Select item 14914965352.

rs1491496535 has merged into rs11323873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:5220168 (GRCh38)
5:5220281 (GRCh37)
Canonical SPDI:: NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:5220156:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.5220168_5220177del, NC_000005.10:g.5220170_5220177del, NC_000005.10:g.5220173_5220177del, NC_000005.10:g.5220174_5220177del, NC_000005.10:g.5220175_5220177del, NC_000005.10:g.5220176_5220177del, NC_000005.10:g.5220177del, NC_000005.10:g.5220177dup, NC_000005.10:g.5220176_5220177dup, NC_000005.10:g.5220175_5220177dup, NC_000005.10:g.5220174_5220177dup, NC_000005.10:g.5220172_5220177dup, NC_000005.10:g.5220170_5220177dup, NC_000005.9:g.5220281_5220290del, NC_000005.9:g.5220283_5220290del, NC_000005.9:g.5220286_5220290del, NC_000005.9:g.5220287_5220290del, NC_000005.9:g.5220288_5220290del, NC_000005.9:g.5220289_5220290del, NC_000005.9:g.5220290del, NC_000005.9:g.5220290dup, NC_000005.9:g.5220289_5220290dup, NC_000005.9:g.5220288_5220290dup, NC_000005.9:g.5220287_5220290dup, NC_000005.9:g.5220285_5220290dup, NC_000005.9:g.5220283_5220290dup

Select item 14914821823.

rs1491482182 has merged into rs55703329 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 5:5215882 (GRCh38)
5:5215995 (GRCh37)
Canonical SPDI:: NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:5215870:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
TATATATATATATATATATA=0.2/8 (GENOME_DK)
HGVS:: NC_000005.10:g.5215872AT[5], NC_000005.10:g.5215872AT[6], NC_000005.10:g.5215872AT[7], NC_000005.10:g.5215872AT[8], NC_000005.10:g.5215872AT[9], NC_000005.10:g.5215872AT[10], NC_000005.10:g.5215872AT[11], NC_000005.10:g.5215872AT[12], NC_000005.10:g.5215872AT[13], NC_000005.10:g.5215872AT[14], NC_000005.10:g.5215872AT[15], NC_000005.10:g.5215872AT[16], NC_000005.10:g.5215872AT[17], NC_000005.10:g.5215872AT[18], NC_000005.10:g.5215872AT[19], NC_000005.10:g.5215872AT[20], NC_000005.10:g.5215872AT[21], NC_000005.10:g.5215872AT[23], NC_000005.10:g.5215872AT[24], NC_000005.10:g.5215872AT[25], NC_000005.10:g.5215872AT[26], NC_000005.10:g.5215872AT[27], NC_000005.10:g.5215872AT[28], NC_000005.10:g.5215872AT[29], NC_000005.10:g.5215872AT[30], NC_000005.10:g.5215872AT[31], NC_000005.10:g.5215872AT[32], NC_000005.9:g.5215985AT[5], NC_000005.9:g.5215985AT[6], NC_000005.9:g.5215985AT[7], NC_000005.9:g.5215985AT[8], NC_000005.9:g.5215985AT[9], NC_000005.9:g.5215985AT[10], NC_000005.9:g.5215985AT[11], NC_000005.9:g.5215985AT[12], NC_000005.9:g.5215985AT[13], NC_000005.9:g.5215985AT[14], NC_000005.9:g.5215985AT[15], NC_000005.9:g.5215985AT[16], NC_000005.9:g.5215985AT[17], NC_000005.9:g.5215985AT[18], NC_000005.9:g.5215985AT[19], NC_000005.9:g.5215985AT[20], NC_000005.9:g.5215985AT[21], NC_000005.9:g.5215985AT[23], NC_000005.9:g.5215985AT[24], NC_000005.9:g.5215985AT[25], NC_000005.9:g.5215985AT[26], NC_000005.9:g.5215985AT[27], NC_000005.9:g.5215985AT[28], NC_000005.9:g.5215985AT[29], NC_000005.9:g.5215985AT[30], NC_000005.9:g.5215985AT[31], NC_000005.9:g.5215985AT[32]

Select item 14914797064.

rs1491479706 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:5220157 (GRCh38)
5:5220271 (GRCh37)
Canonical SPDI:: NC_000005.10:5220157::A
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00007/4 (GnomAD)
HGVS:: NC_000005.10:g.5220157_5220158insA, NC_000005.9:g.5220270_5220271insA

Select item 14914790375.

rs1491479037 has merged into rs55875918 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:5227521 (GRCh38)
5:5227634 (GRCh37)
Canonical SPDI:: NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5227505:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTGTGTG=0.05/2 (GENOME_DK)
HGVS:: NC_000005.10:g.5227507GT[7], NC_000005.10:g.5227507GT[9], NC_000005.10:g.5227507GT[10], NC_000005.10:g.5227507GT[11], NC_000005.10:g.5227507GT[12], NC_000005.10:g.5227507GT[13], NC_000005.10:g.5227507GT[14], NC_000005.10:g.5227507GT[15], NC_000005.10:g.5227507GT[16], NC_000005.10:g.5227507GT[17], NC_000005.10:g.5227507GT[18], NC_000005.10:g.5227507GT[19], NC_000005.10:g.5227507GT[20], NC_000005.10:g.5227507GT[22], NC_000005.10:g.5227507GT[23], NC_000005.10:g.5227507GT[24], NC_000005.9:g.5227620GT[7], NC_000005.9:g.5227620GT[9], NC_000005.9:g.5227620GT[10], NC_000005.9:g.5227620GT[11], NC_000005.9:g.5227620GT[12], NC_000005.9:g.5227620GT[13], NC_000005.9:g.5227620GT[14], NC_000005.9:g.5227620GT[15], NC_000005.9:g.5227620GT[16], NC_000005.9:g.5227620GT[17], NC_000005.9:g.5227620GT[18], NC_000005.9:g.5227620GT[19], NC_000005.9:g.5227620GT[20], NC_000005.9:g.5227620GT[22], NC_000005.9:g.5227620GT[23], NC_000005.9:g.5227620GT[24]

Select item 14914691166.

rs1491469116 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:5276876 (GRCh38)
5:5276990 (GRCh37)
Canonical SPDI:: NC_000005.10:5276876:G:GG
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.5276877dup, NC_000005.9:g.5276990dup

Select item 14914137137.

rs1491413713 has merged into rs1553989063 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:5186322 (GRCh38)
5:5186435 (GRCh37)
Canonical SPDI:: NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:5186301:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.05016/186 (TWINSUK)
GT=0.05631/217 (ALSPAC)
HGVS:: NC_000005.10:g.5186302GT[10], NC_000005.10:g.5186302GT[11], NC_000005.10:g.5186302GT[12], NC_000005.10:g.5186302GT[13], NC_000005.10:g.5186302GT[14], NC_000005.10:g.5186302GT[15], NC_000005.10:g.5186302GT[16], NC_000005.10:g.5186302GT[18], NC_000005.10:g.5186302GT[19], NC_000005.10:g.5186302GT[20], NC_000005.10:g.5186302GT[21], NC_000005.10:g.5186302GT[22], NC_000005.10:g.5186302GT[23], NC_000005.10:g.5186302GT[24], NC_000005.10:g.5186302GT[25], NC_000005.9:g.5186415GT[10], NC_000005.9:g.5186415GT[11], NC_000005.9:g.5186415GT[12], NC_000005.9:g.5186415GT[13], NC_000005.9:g.5186415GT[14], NC_000005.9:g.5186415GT[15], NC_000005.9:g.5186415GT[16], NC_000005.9:g.5186415GT[18], NC_000005.9:g.5186415GT[19], NC_000005.9:g.5186415GT[20], NC_000005.9:g.5186415GT[21], NC_000005.9:g.5186415GT[22], NC_000005.9:g.5186415GT[23], NC_000005.9:g.5186415GT[24], NC_000005.9:g.5186415GT[25]

Select item 14913843678.

rs1491384367 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:5309856 (GRCh38)
5:5309969 (GRCh37)
Canonical SPDI:: NC_000005.10:5309855:GC:
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0008/4 (1000Genomes)
HGVS:: NC_000005.10:g.5309856_5309857del, NC_000005.9:g.5309969_5309970del

Select item 14913795459.

rs1491379545 has merged into rs11290403 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 5:5299523 (GRCh38)
5:5299636 (GRCh37)
Canonical SPDI:: NC_000005.10:5299514:TTTTTTTTTT:TTTTTTTT,NC_000005.10:5299514:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:5299514:TTTTTTTTTT:TTTTTTTTTTT
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.1816/966 (ALFA)
-=0.2006/773 (ALSPAC)
-=0.4405/1069 (1000Genomes)
HGVS:: NC_000005.10:g.5299523_5299524del, NC_000005.10:g.5299524del, NC_000005.10:g.5299524dup, NC_000005.9:g.5299636_5299637del, NC_000005.9:g.5299637del, NC_000005.9:g.5299637dup

Select item 149137306310.

rs1491373063 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 5:5250710 (GRCh38)
5:5250824 (GRCh37)
Canonical SPDI:: NC_000005.10:5250710:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGGTGTGTGTGTGTGTGTG
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000005.10:g.5250711_5250727dup, NC_000005.9:g.5250824_5250840dup

Select item 149134808211.

rs1491348082 has merged into rs1256541960 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 5:5225612 (GRCh38)
5:5225725 (GRCh37)
Canonical SPDI:: NC_000005.10:5225601:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:5225601:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:5225601:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:5225601:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.5225612_5225613del, NC_000005.10:g.5225613del, NC_000005.10:g.5225613dup, NC_000005.10:g.5225612_5225613dup, NC_000005.9:g.5225725_5225726del, NC_000005.9:g.5225726del, NC_000005.9:g.5225726dup, NC_000005.9:g.5225725_5225726dup

Select item 149134402812.

rs1491344028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 5:5309828 (GRCh38)
5:5309942 (GRCh37)
Canonical SPDI:: NC_000005.10:5309828:T:TAT
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0./0 (GnomAD)
HGVS:: NC_000005.10:g.5309829_5309830insAT, NC_000005.9:g.5309942_5309943insAT

Select item 149133174113.

rs1491331741 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:5276876 (GRCh38)
5:5276989 (GRCh37)
Canonical SPDI:: NC_000005.10:5276875:TG:
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0033/14 (ALFA)
HGVS:: NC_000005.10:g.5276876_5276877del, NC_000005.9:g.5276989_5276990del

Select item 149132826214.

rs1491328262 has merged into rs56068510 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:5308964 (GRCh38)
5:5309077 (GRCh37)
Canonical SPDI:: NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5308949:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0828/319 (ALSPAC)
-=0.2628/1316 (1000Genomes)
HGVS:: NC_000005.10:g.5308964_5308967del, NC_000005.10:g.5308965_5308967del, NC_000005.10:g.5308966_5308967del, NC_000005.10:g.5308967del, NC_000005.10:g.5308967dup, NC_000005.10:g.5308966_5308967dup, NC_000005.10:g.5308965_5308967dup, NC_000005.10:g.5308954_5308967dup, NC_000005.10:g.5308951_5308967dup, NC_000005.9:g.5309077_5309080del, NC_000005.9:g.5309078_5309080del, NC_000005.9:g.5309079_5309080del, NC_000005.9:g.5309080del, NC_000005.9:g.5309080dup, NC_000005.9:g.5309079_5309080dup, NC_000005.9:g.5309078_5309080dup, NC_000005.9:g.5309067_5309080dup, NC_000005.9:g.5309064_5309080dup

Select item 149131185715.

rs1491311857 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTATAG [Show Flanks]
Chromosome:: 5:5215871 (GRCh38)
5:5215985 (GRCh37)
Canonical SPDI:: NC_000005.10:5215871::G,NC_000005.10:5215871::GTATAG
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTATAG=0./0 (ALFA)
HGVS:: NC_000005.10:g.5215871_5215872insG, NC_000005.10:g.5215871_5215872insGTATAG, NC_000005.9:g.5215984_5215985insG, NC_000005.9:g.5215984_5215985insGTATAG

Select item 149130198616.

rs1491301986 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AT [Show Flanks]
Chromosome:: 5:5305561 (GRCh38)
5:5305675 (GRCh37)
Canonical SPDI:: NC_000005.10:5305561::A,NC_000005.10:5305561::AT
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000005.10:g.5305561_5305562insA, NC_000005.10:g.5305561_5305562insAT, NC_000005.9:g.5305674_5305675insA, NC_000005.9:g.5305674_5305675insAT

Select item 149129807017.

rs1491298070 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:5320085 (GRCh38)
5:5320199 (GRCh37)
Canonical SPDI:: NC_000005.10:5320085::G
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00013/1 (GnomAD)
HGVS:: NC_000005.10:g.5320085_5320086insG, NC_000005.9:g.5320198_5320199insG, NM_139056.4:c.*947_*948insG, NM_139056.3:c.*947_*948insG, NM_139056.2:c.*947_*948insG, NR_136935.2:n.4629_4630insG, NR_136935.1:n.4629_4630insG, XM_047416874.1:c.*947_*948insG

Select item 149128948418.

rs1491289484 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:5212190 (GRCh38)
5:5212303 (GRCh37)
Canonical SPDI:: NC_000005.10:5212189:GT:
Gene:: ADAMTS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.5212190_5212191del, NC_000005.9:g.5212303_5212304del

Select item 149128630719.

rs1491286307 has merged into rs1158555676 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:5286869 (GRCh38)
5:5286982 (GRCh37)
Canonical SPDI:: NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:5286857:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.5286869_5286883del, NC_000005.10:g.5286870_5286883del, NC_000005.10:g.5286871_5286883del, NC_000005.10:g.5286872_5286883del, NC_000005.10:g.5286873_5286883del, NC_000005.10:g.5286874_5286883del, NC_000005.10:g.5286875_5286883del, NC_000005.10:g.5286876_5286883del, NC_000005.10:g.5286877_5286883del, NC_000005.10:g.5286878_5286883del, NC_000005.10:g.5286879_5286883del, NC_000005.10:g.5286880_5286883del, NC_000005.10:g.5286881_5286883del, NC_000005.10:g.5286882_5286883del, NC_000005.10:g.5286883del, NC_000005.10:g.5286883dup, NC_000005.10:g.5286882_5286883dup, NC_000005.10:g.5286881_5286883dup, NC_000005.10:g.5286880_5286883dup, NC_000005.10:g.5286879_5286883dup, NC_000005.9:g.5286982_5286996del, NC_000005.9:g.5286983_5286996del, NC_000005.9:g.5286984_5286996del, NC_000005.9:g.5286985_5286996del, NC_000005.9:g.5286986_5286996del, NC_000005.9:g.5286987_5286996del, NC_000005.9:g.5286988_5286996del, NC_000005.9:g.5286989_5286996del, NC_000005.9:g.5286990_5286996del, NC_000005.9:g.5286991_5286996del, NC_000005.9:g.5286992_5286996del, NC_000005.9:g.5286993_5286996del, NC_000005.9:g.5286994_5286996del, NC_000005.9:g.5286995_5286996del, NC_000005.9:g.5286996del, NC_000005.9:g.5286996dup, NC_000005.9:g.5286995_5286996dup, NC_000005.9:g.5286994_5286996dup, NC_000005.9:g.5286993_5286996dup, NC_000005.9:g.5286992_5286996dup

Select item 149127515920.

rs1491275159 has merged into rs34377817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 5:5274747 (GRCh38)
5:5274860 (GRCh37)
Canonical SPDI:: NC_000005.10:5274737:ATATATATATATA:ATATATATA,NC_000005.10:5274737:ATATATATATATA:ATATATATATA,NC_000005.10:5274737:ATATATATATATA:ATATATATATATATA,NC_000005.10:5274737:ATATATATATATA:ATATATATATATATATA,NC_000005.10:5274737:ATATATATATATA:ATATATATATATATATATA,NC_000005.10:5274737:ATATATATATATA:ATATATATATATATATATATA
Gene:: ADAMTS16 (Varview), LOC101929200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.2757/59 (Vietnamese)
AT=0.4333/2170 (1000Genomes)
-=0.5/20 (GENOME_DK)
-=0.5/299 (NorthernSweden)
HGVS:: NC_000005.10:g.5274739TA[4], NC_000005.10:g.5274739TA[5], NC_000005.10:g.5274739TA[7], NC_000005.10:g.5274739TA[8], NC_000005.10:g.5274739TA[9], NC_000005.10:g.5274739TA[10], NC_000005.9:g.5274852TA[4], NC_000005.9:g.5274852TA[5], NC_000005.9:g.5274852TA[7], NC_000005.9:g.5274852TA[8], NC_000005.9:g.5274852TA[9], NC_000005.9:g.5274852TA[10]

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