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Select item 14915884551.

rs1491588455 has merged into rs71181374 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTGTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33659073 (GRCh38)
19:34149979 (GRCh37)
Canonical SPDI:: NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTGTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33659059:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHST8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.33659073_33659082del, NC_000019.10:g.33659075_33659082del, NC_000019.10:g.33659077_33659082del, NC_000019.10:g.33659078_33659082del, NC_000019.10:g.33659080_33659082del, NC_000019.10:g.33659081_33659082del, NC_000019.10:g.33659082del, NC_000019.10:g.33659082dup, NC_000019.10:g.33659081_33659082dup, NC_000019.10:g.33659060_33659082T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.33659080_33659082dup, NC_000019.10:g.33659060_33659082T[26]CTTTGTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.33659079_33659082dup, NC_000019.10:g.33659078_33659082dup, NC_000019.10:g.33659060_33659082T[28]GTTTATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.33659077_33659082dup, NC_000019.10:g.33659076_33659082dup, NC_000019.10:g.33659075_33659082dup, NC_000019.10:g.33659074_33659082dup, NC_000019.10:g.33659073_33659082dup, NC_000019.10:g.33659072_33659082dup, NC_000019.10:g.33659071_33659082dup, NC_000019.10:g.33659070_33659082dup, NC_000019.10:g.33659069_33659082dup, NC_000019.10:g.33659068_33659082dup, NC_000019.10:g.33659067_33659082dup, NC_000019.10:g.33659066_33659082dup, NC_000019.10:g.33659065_33659082dup, NC_000019.10:g.33659060_33659082dup, NC_000019.10:g.33659082_33659083insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.33659082_33659083insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.34149979_34149988del, NC_000019.9:g.34149981_34149988del, NC_000019.9:g.34149983_34149988del, NC_000019.9:g.34149984_34149988del, NC_000019.9:g.34149986_34149988del, NC_000019.9:g.34149987_34149988del, NC_000019.9:g.34149988del, NC_000019.9:g.34149988dup, NC_000019.9:g.34149987_34149988dup, NC_000019.9:g.34149966_34149988T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.34149986_34149988dup, NC_000019.9:g.34149966_34149988T[26]CTTTGTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.34149985_34149988dup, NC_000019.9:g.34149984_34149988dup, NC_000019.9:g.34149966_34149988T[28]GTTTATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.34149983_34149988dup, NC_000019.9:g.34149982_34149988dup, NC_000019.9:g.34149981_34149988dup, NC_000019.9:g.34149980_34149988dup, NC_000019.9:g.34149979_34149988dup, NC_000019.9:g.34149978_34149988dup, NC_000019.9:g.34149977_34149988dup, NC_000019.9:g.34149976_34149988dup, NC_000019.9:g.34149975_34149988dup, NC_000019.9:g.34149974_34149988dup, NC_000019.9:g.34149973_34149988dup, NC_000019.9:g.34149972_34149988dup, NC_000019.9:g.34149971_34149988dup, NC_000019.9:g.34149966_34149988dup, NC_000019.9:g.34149988_34149989insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.34149988_34149989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.2:g.42122_42131del, NG_029857.2:g.42124_42131del, NG_029857.2:g.42126_42131del, NG_029857.2:g.42127_42131del, NG_029857.2:g.42129_42131del, NG_029857.2:g.42130_42131del, NG_029857.2:g.42131del, NG_029857.2:g.42131dup, NG_029857.2:g.42130_42131dup, NG_029857.2:g.42109_42131T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.2:g.42129_42131dup, NG_029857.2:g.42109_42131T[26]CTTTGTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.2:g.42128_42131dup, NG_029857.2:g.42127_42131dup, NG_029857.2:g.42109_42131T[28]GTTTATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.2:g.42126_42131dup, NG_029857.2:g.42125_42131dup, NG_029857.2:g.42124_42131dup, NG_029857.2:g.42123_42131dup, NG_029857.2:g.42122_42131dup, NG_029857.2:g.42121_42131dup, NG_029857.2:g.42120_42131dup, NG_029857.2:g.42119_42131dup, NG_029857.2:g.42118_42131dup, NG_029857.2:g.42117_42131dup, NG_029857.2:g.42116_42131dup, NG_029857.2:g.42115_42131dup, NG_029857.2:g.42114_42131dup, NG_029857.2:g.42109_42131dup, NG_029857.2:g.42131_42132insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.2:g.42131_42132insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.1:g.42119_42128del, NG_029857.1:g.42121_42128del, NG_029857.1:g.42123_42128del, NG_029857.1:g.42124_42128del, NG_029857.1:g.42126_42128del, NG_029857.1:g.42127_42128del, NG_029857.1:g.42128del, NG_029857.1:g.42128dup, NG_029857.1:g.42127_42128dup, NG_029857.1:g.42106_42128T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.1:g.42126_42128dup, NG_029857.1:g.42106_42128T[26]CTTTGTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.1:g.42125_42128dup, NG_029857.1:g.42124_42128dup, NG_029857.1:g.42106_42128T[28]GTTTATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.1:g.42123_42128dup, NG_029857.1:g.42122_42128dup, NG_029857.1:g.42121_42128dup, NG_029857.1:g.42120_42128dup, NG_029857.1:g.42119_42128dup, NG_029857.1:g.42118_42128dup, NG_029857.1:g.42117_42128dup, NG_029857.1:g.42116_42128dup, NG_029857.1:g.42115_42128dup, NG_029857.1:g.42114_42128dup, NG_029857.1:g.42113_42128dup, NG_029857.1:g.42112_42128dup, NG_029857.1:g.42111_42128dup, NG_029857.1:g.42106_42128dup, NG_029857.1:g.42128_42129insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.1:g.42128_42129insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915631332.

rs1491563133 [Homo sapiens]

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

Select item 14915082113.

rs1491508211 has merged into rs916165328 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33743309 (GRCh38)
19:34234214 (GRCh37)
Canonical SPDI:: NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33743296:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000227/60 (TOPMED)
HGVS:: NC_000019.10:g.33743309_33743319del, NC_000019.10:g.33743311_33743319del, NC_000019.10:g.33743312_33743319del, NC_000019.10:g.33743317_33743319del, NC_000019.10:g.33743318_33743319del, NC_000019.10:g.33743319del, NC_000019.10:g.33743319dup, NC_000019.10:g.33743318_33743319dup, NC_000019.10:g.33743317_33743319dup, NC_000019.10:g.33743316_33743319dup, NC_000019.10:g.33743315_33743319dup, NC_000019.10:g.33743314_33743319dup, NC_000019.10:g.33743313_33743319dup, NC_000019.10:g.33743312_33743319dup, NC_000019.10:g.33743311_33743319dup, NC_000019.10:g.33743310_33743319dup, NC_000019.10:g.33743308_33743319dup, NC_000019.10:g.33743319_33743320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.33743319_33743320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.34234214_34234224del, NC_000019.9:g.34234216_34234224del, NC_000019.9:g.34234217_34234224del, NC_000019.9:g.34234222_34234224del, NC_000019.9:g.34234223_34234224del, NC_000019.9:g.34234224del, NC_000019.9:g.34234224dup, NC_000019.9:g.34234223_34234224dup, NC_000019.9:g.34234222_34234224dup, NC_000019.9:g.34234221_34234224dup, NC_000019.9:g.34234220_34234224dup, NC_000019.9:g.34234219_34234224dup, NC_000019.9:g.34234218_34234224dup, NC_000019.9:g.34234217_34234224dup, NC_000019.9:g.34234216_34234224dup, NC_000019.9:g.34234215_34234224dup, NC_000019.9:g.34234213_34234224dup, NC_000019.9:g.34234224_34234225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.34234224_34234225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.2:g.126358_126368del, NG_029857.2:g.126360_126368del, NG_029857.2:g.126361_126368del, NG_029857.2:g.126366_126368del, NG_029857.2:g.126367_126368del, NG_029857.2:g.126368del, NG_029857.2:g.126368dup, NG_029857.2:g.126367_126368dup, NG_029857.2:g.126366_126368dup, NG_029857.2:g.126365_126368dup, NG_029857.2:g.126364_126368dup, NG_029857.2:g.126363_126368dup, NG_029857.2:g.126362_126368dup, NG_029857.2:g.126361_126368dup, NG_029857.2:g.126360_126368dup, NG_029857.2:g.126359_126368dup, NG_029857.2:g.126357_126368dup, NG_029857.2:g.126368_126369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.2:g.126368_126369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.1:g.126354_126364del, NG_029857.1:g.126356_126364del, NG_029857.1:g.126357_126364del, NG_029857.1:g.126362_126364del, NG_029857.1:g.126363_126364del, NG_029857.1:g.126364del, NG_029857.1:g.126364dup, NG_029857.1:g.126363_126364dup, NG_029857.1:g.126362_126364dup, NG_029857.1:g.126361_126364dup, NG_029857.1:g.126360_126364dup, NG_029857.1:g.126359_126364dup, NG_029857.1:g.126358_126364dup, NG_029857.1:g.126357_126364dup, NG_029857.1:g.126356_126364dup, NG_029857.1:g.126355_126364dup, NG_029857.1:g.126353_126364dup, NG_029857.1:g.126364_126365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029857.1:g.126364_126365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915071664.

rs1491507166 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:33633774 (GRCh38)
19:34124680 (GRCh37)
Canonical SPDI:: NC_000019.10:33633773:CG:
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000019.10:g.33633774_33633775del, NC_000019.9:g.34124680_34124681del, NG_029857.2:g.16823_16824del, NG_029857.1:g.16820_16821del

Select item 14914980545.

rs1491498054 has merged into rs3040761 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33634689 (GRCh38)
19:34125595 (GRCh37)
Canonical SPDI:: NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33634677:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHST8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0395/15 (NorthernSweden)
-=0.4203/2105 (1000Genomes)
HGVS:: NC_000019.10:g.33634689_33634701del, NC_000019.10:g.33634690_33634701del, NC_000019.10:g.33634691_33634701del, NC_000019.10:g.33634692_33634701del, NC_000019.10:g.33634694_33634701del, NC_000019.10:g.33634695_33634701del, NC_000019.10:g.33634696_33634701del, NC_000019.10:g.33634697_33634701del, NC_000019.10:g.33634698_33634701del, NC_000019.10:g.33634699_33634701del, NC_000019.10:g.33634700_33634701del, NC_000019.10:g.33634701del, NC_000019.10:g.33634701dup, NC_000019.10:g.33634700_33634701dup, NC_000019.10:g.33634699_33634701dup, NC_000019.10:g.33634698_33634701dup, NC_000019.10:g.33634697_33634701dup, NC_000019.10:g.33634696_33634701dup, NC_000019.10:g.33634695_33634701dup, NC_000019.10:g.33634694_33634701dup, NC_000019.10:g.33634693_33634701dup, NC_000019.9:g.34125595_34125607del, NC_000019.9:g.34125596_34125607del, NC_000019.9:g.34125597_34125607del, NC_000019.9:g.34125598_34125607del, NC_000019.9:g.34125600_34125607del, NC_000019.9:g.34125601_34125607del, NC_000019.9:g.34125602_34125607del, NC_000019.9:g.34125603_34125607del, NC_000019.9:g.34125604_34125607del, NC_000019.9:g.34125605_34125607del, NC_000019.9:g.34125606_34125607del, NC_000019.9:g.34125607del, NC_000019.9:g.34125607dup, NC_000019.9:g.34125606_34125607dup, NC_000019.9:g.34125605_34125607dup, NC_000019.9:g.34125604_34125607dup, NC_000019.9:g.34125603_34125607dup, NC_000019.9:g.34125602_34125607dup, NC_000019.9:g.34125601_34125607dup, NC_000019.9:g.34125600_34125607dup, NC_000019.9:g.34125599_34125607dup, NG_029857.2:g.17738_17750del, NG_029857.2:g.17739_17750del, NG_029857.2:g.17740_17750del, NG_029857.2:g.17741_17750del, NG_029857.2:g.17743_17750del, NG_029857.2:g.17744_17750del, NG_029857.2:g.17745_17750del, NG_029857.2:g.17746_17750del, NG_029857.2:g.17747_17750del, NG_029857.2:g.17748_17750del, NG_029857.2:g.17749_17750del, NG_029857.2:g.17750del, NG_029857.2:g.17750dup, NG_029857.2:g.17749_17750dup, NG_029857.2:g.17748_17750dup, NG_029857.2:g.17747_17750dup, NG_029857.2:g.17746_17750dup, NG_029857.2:g.17745_17750dup, NG_029857.2:g.17744_17750dup, NG_029857.2:g.17743_17750dup, NG_029857.2:g.17742_17750dup, NG_029857.1:g.17735_17747del, NG_029857.1:g.17736_17747del, NG_029857.1:g.17737_17747del, NG_029857.1:g.17738_17747del, NG_029857.1:g.17740_17747del, NG_029857.1:g.17741_17747del, NG_029857.1:g.17742_17747del, NG_029857.1:g.17743_17747del, NG_029857.1:g.17744_17747del, NG_029857.1:g.17745_17747del, NG_029857.1:g.17746_17747del, NG_029857.1:g.17747del, NG_029857.1:g.17747dup, NG_029857.1:g.17746_17747dup, NG_029857.1:g.17745_17747dup, NG_029857.1:g.17744_17747dup, NG_029857.1:g.17743_17747dup, NG_029857.1:g.17742_17747dup, NG_029857.1:g.17741_17747dup, NG_029857.1:g.17740_17747dup, NG_029857.1:g.17739_17747dup

Select item 14914958446.

rs1491495844 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:33652373 (GRCh38)
19:34143280 (GRCh37)
Canonical SPDI:: NC_000019.10:33652373::C
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.33652373_33652374insC, NC_000019.9:g.34143279_34143280insC, NG_029857.2:g.35422_35423insC, NG_029857.1:g.35419_35420insC

Select item 14914740337.

rs1491474033 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTG,TTTG,TTTTTG [Show Flanks]
Chromosome:: 19:33652393 (GRCh38)
19:34143300 (GRCh37)
Canonical SPDI:: NC_000019.10:33652393::TG,NC_000019.10:33652393::TTG,NC_000019.10:33652393::TTTG,NC_000019.10:33652393::TTTTTG
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTG=0./0 (ALFA)
TG=0.01015/65 (1000Genomes)
HGVS:: NC_000019.10:g.33652393_33652394insTG, NC_000019.10:g.33652393_33652394insTTG, NC_000019.10:g.33652393_33652394insTTTG, NC_000019.10:g.33652393_33652394insTTTTTG, NC_000019.9:g.34143299_34143300insTG, NC_000019.9:g.34143299_34143300insTTG, NC_000019.9:g.34143299_34143300insTTTG, NC_000019.9:g.34143299_34143300insTTTTTG, NG_029857.2:g.35442_35443insTG, NG_029857.2:g.35442_35443insTTG, NG_029857.2:g.35442_35443insTTTG, NG_029857.2:g.35442_35443insTTTTTG, NG_029857.1:g.35439_35440insTG, NG_029857.1:g.35439_35440insTTG, NG_029857.1:g.35439_35440insTTTG, NG_029857.1:g.35439_35440insTTTTTG

Select item 14914647508.

rs1491464750 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAAAGAGAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 19:33757524 (GRCh38)
19:34248429 (GRCh37)
Canonical SPDI:: NC_000019.10:33757520:AGAGA:AGA,NC_000019.10:33757520:AGAGA:AGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAAAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:33757520:AGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.02436/289 (ALFA)
-=0.00382/5 (Korea1K)
HGVS:: NC_000019.10:g.33757522GA[1], NC_000019.10:g.33757522GA[3], NC_000019.10:g.33757521_33757525AG[3]AAAGAGAGA[1], NC_000019.10:g.33757522GA[4], NC_000019.10:g.33757522GA[5], NC_000019.10:g.33757522GA[6], NC_000019.10:g.33757522GA[7], NC_000019.10:g.33757522GA[8], NC_000019.10:g.33757522GA[10], NC_000019.10:g.33757522GA[12], NC_000019.10:g.33757522GA[14], NC_000019.9:g.34248427GA[1], NC_000019.9:g.34248427GA[3], NC_000019.9:g.34248426_34248430AG[3]AAAGAGAGA[1], NC_000019.9:g.34248427GA[4], NC_000019.9:g.34248427GA[5], NC_000019.9:g.34248427GA[6], NC_000019.9:g.34248427GA[7], NC_000019.9:g.34248427GA[8], NC_000019.9:g.34248427GA[10], NC_000019.9:g.34248427GA[12], NC_000019.9:g.34248427GA[14], NG_029857.2:g.140571GA[1], NG_029857.2:g.140571GA[3], NG_029857.2:g.140570_140574AG[3]AAAGAGAGA[1], NG_029857.2:g.140571GA[4], NG_029857.2:g.140571GA[5], NG_029857.2:g.140571GA[6], NG_029857.2:g.140571GA[7], NG_029857.2:g.140571GA[8], NG_029857.2:g.140571GA[10], NG_029857.2:g.140571GA[12], NG_029857.2:g.140571GA[14], NG_029857.1:g.140567GA[1], NG_029857.1:g.140567GA[3], NG_029857.1:g.140566_140570AG[3]AAAGAGAGA[1], NG_029857.1:g.140567GA[4], NG_029857.1:g.140567GA[5], NG_029857.1:g.140567GA[6], NG_029857.1:g.140567GA[7], NG_029857.1:g.140567GA[8], NG_029857.1:g.140567GA[10], NG_029857.1:g.140567GA[12], NG_029857.1:g.140567GA[14]

Select item 14914633429.

rs1491463342 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:33666289 (GRCh38)
19:34157195 (GRCh37)
Canonical SPDI:: NC_000019.10:33666288:AT:
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.33666289_33666290del, NC_000019.9:g.34157195_34157196del, NG_029857.2:g.49338_49339del, NG_029857.1:g.49335_49336del

Select item 149145134510.

rs1491451345 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATA,TTTTATATATATATAT [Show Flanks]
Chromosome:: 19:33694093 (GRCh38)
19:34184999 (GRCh37)
Canonical SPDI:: NC_000019.10:33694093::TATATA,NC_000019.10:33694093::TTTTATATATATATAT
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTATATATATATAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.33694093_33694094insTATATA, NC_000019.10:g.33694093_33694094insTTTTATATATATATAT, NC_000019.9:g.34184998_34184999insTATATA, NC_000019.9:g.34184998_34184999insTTTTATATATATATAT, NG_029857.2:g.77142_77143insTATATA, NG_029857.2:g.77142_77143insTTTTATATATATATAT, NG_029857.1:g.77138_77139insTATATA, NG_029857.1:g.77138_77139insTTTTATATATATATAT

Select item 149145086111.

rs1491450861 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:33637877 (GRCh38)
19:34128783 (GRCh37)
Canonical SPDI:: NC_000019.10:33637875:AGA:A
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00109/2 (Korea1K)
HGVS:: NC_000019.10:g.33637877_33637878del, NC_000019.9:g.34128783_34128784del, NG_029857.2:g.20926_20927del, NG_029857.1:g.20923_20924del

Select item 149144299812.

rs1491442998 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:33652393 (GRCh38)
19:34143299 (GRCh37)
Canonical SPDI:: NC_000019.10:33652392:TG:
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33652393_33652394del, NC_000019.9:g.34143299_34143300del, NG_029857.2:g.35442_35443del, NG_029857.1:g.35439_35440del

Select item 149141698113.

rs1491416981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:33637876 (GRCh38)
19:34128783 (GRCh37)
Canonical SPDI:: NC_000019.10:33637876:G:GG
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000051/7 (GnomAD)
HGVS:: NC_000019.10:g.33637877dup, NC_000019.9:g.34128783dup, NG_029857.2:g.20926dup, NG_029857.1:g.20923dup

Select item 149139593214.

rs1491395932 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33634677 (GRCh38)
19:34125583 (GRCh37)
Canonical SPDI:: NC_000019.10:33634676:CA:
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000019.10:g.33634677_33634678del, NC_000019.9:g.34125583_34125584del, NG_029857.2:g.17726_17727del, NG_029857.1:g.17723_17724del

Select item 149137618015.

rs1491376180 has merged into rs137912672 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:33620409 (GRCh38)
19:34111315 (GRCh37)
Canonical SPDI:: NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:33620395:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA
Gene:: CHST8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
-=0.4185/1613 (ALSPAC)
HGVS:: NC_000019.10:g.33620397CA[6], NC_000019.10:g.33620397CA[7], NC_000019.10:g.33620397CA[8], NC_000019.10:g.33620397CA[9], NC_000019.10:g.33620397CA[10], NC_000019.10:g.33620397CA[11], NC_000019.10:g.33620397CA[12], NC_000019.10:g.33620397CA[13], NC_000019.10:g.33620397CA[14], NC_000019.10:g.33620397CA[16], NC_000019.10:g.33620397CA[17], NC_000019.10:g.33620397CA[18], NC_000019.10:g.33620397CA[19], NC_000019.10:g.33620397CA[20], NC_000019.10:g.33620397CA[21], NC_000019.9:g.34111303CA[6], NC_000019.9:g.34111303CA[7], NC_000019.9:g.34111303CA[8], NC_000019.9:g.34111303CA[9], NC_000019.9:g.34111303CA[10], NC_000019.9:g.34111303CA[11], NC_000019.9:g.34111303CA[12], NC_000019.9:g.34111303CA[13], NC_000019.9:g.34111303CA[14], NC_000019.9:g.34111303CA[16], NC_000019.9:g.34111303CA[17], NC_000019.9:g.34111303CA[18], NC_000019.9:g.34111303CA[19], NC_000019.9:g.34111303CA[20], NC_000019.9:g.34111303CA[21], NG_029857.2:g.3446CA[6], NG_029857.2:g.3446CA[7], NG_029857.2:g.3446CA[8], NG_029857.2:g.3446CA[9], NG_029857.2:g.3446CA[10], NG_029857.2:g.3446CA[11], NG_029857.2:g.3446CA[12], NG_029857.2:g.3446CA[13], NG_029857.2:g.3446CA[14], NG_029857.2:g.3446CA[16], NG_029857.2:g.3446CA[17], NG_029857.2:g.3446CA[18], NG_029857.2:g.3446CA[19], NG_029857.2:g.3446CA[20], NG_029857.2:g.3446CA[21], NG_029857.1:g.3443CA[6], NG_029857.1:g.3443CA[7], NG_029857.1:g.3443CA[8], NG_029857.1:g.3443CA[9], NG_029857.1:g.3443CA[10], NG_029857.1:g.3443CA[11], NG_029857.1:g.3443CA[12], NG_029857.1:g.3443CA[13], NG_029857.1:g.3443CA[14], NG_029857.1:g.3443CA[16], NG_029857.1:g.3443CA[17], NG_029857.1:g.3443CA[18], NG_029857.1:g.3443CA[19], NG_029857.1:g.3443CA[20], NG_029857.1:g.3443CA[21]

Select item 149136366816.

rs1491363668 has merged into rs869056900 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33682199 (GRCh38)
19:34173105 (GRCh37)
Canonical SPDI:: NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:33682187:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHST8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33682199_33682210del, NC_000019.10:g.33682201_33682210del, NC_000019.10:g.33682204_33682210del, NC_000019.10:g.33682205_33682210del, NC_000019.10:g.33682206_33682210del, NC_000019.10:g.33682207_33682210del, NC_000019.10:g.33682208_33682210del, NC_000019.10:g.33682209_33682210del, NC_000019.10:g.33682210del, NC_000019.10:g.33682210dup, NC_000019.10:g.33682209_33682210dup, NC_000019.10:g.33682208_33682210dup, NC_000019.10:g.33682207_33682210dup, NC_000019.10:g.33682206_33682210dup, NC_000019.10:g.33682205_33682210dup, NC_000019.10:g.33682204_33682210dup, NC_000019.10:g.33682203_33682210dup, NC_000019.10:g.33682202_33682210dup, NC_000019.10:g.33682201_33682210dup, NC_000019.10:g.33682200_33682210dup, NC_000019.10:g.33682199_33682210dup, NC_000019.10:g.33682198_33682210dup, NC_000019.10:g.33682197_33682210dup, NC_000019.10:g.33682196_33682210dup, NC_000019.9:g.34173105_34173116del, NC_000019.9:g.34173107_34173116del, NC_000019.9:g.34173110_34173116del, NC_000019.9:g.34173111_34173116del, NC_000019.9:g.34173112_34173116del, NC_000019.9:g.34173113_34173116del, NC_000019.9:g.34173114_34173116del, NC_000019.9:g.34173115_34173116del, NC_000019.9:g.34173116del, NC_000019.9:g.34173116dup, NC_000019.9:g.34173115_34173116dup, NC_000019.9:g.34173114_34173116dup, NC_000019.9:g.34173113_34173116dup, NC_000019.9:g.34173112_34173116dup, NC_000019.9:g.34173111_34173116dup, NC_000019.9:g.34173110_34173116dup, NC_000019.9:g.34173109_34173116dup, NC_000019.9:g.34173108_34173116dup, NC_000019.9:g.34173107_34173116dup, NC_000019.9:g.34173106_34173116dup, NC_000019.9:g.34173105_34173116dup, NC_000019.9:g.34173104_34173116dup, NC_000019.9:g.34173103_34173116dup, NC_000019.9:g.34173102_34173116dup, NG_029857.2:g.65248_65259del, NG_029857.2:g.65250_65259del, NG_029857.2:g.65253_65259del, NG_029857.2:g.65254_65259del, NG_029857.2:g.65255_65259del, NG_029857.2:g.65256_65259del, NG_029857.2:g.65257_65259del, NG_029857.2:g.65258_65259del, NG_029857.2:g.65259del, NG_029857.2:g.65259dup, NG_029857.2:g.65258_65259dup, NG_029857.2:g.65257_65259dup, NG_029857.2:g.65256_65259dup, NG_029857.2:g.65255_65259dup, NG_029857.2:g.65254_65259dup, NG_029857.2:g.65253_65259dup, NG_029857.2:g.65252_65259dup, NG_029857.2:g.65251_65259dup, NG_029857.2:g.65250_65259dup, NG_029857.2:g.65249_65259dup, NG_029857.2:g.65248_65259dup, NG_029857.2:g.65247_65259dup, NG_029857.2:g.65246_65259dup, NG_029857.2:g.65245_65259dup, NG_029857.1:g.65245_65256del, NG_029857.1:g.65247_65256del, NG_029857.1:g.65250_65256del, NG_029857.1:g.65251_65256del, NG_029857.1:g.65252_65256del, NG_029857.1:g.65253_65256del, NG_029857.1:g.65254_65256del, NG_029857.1:g.65255_65256del, NG_029857.1:g.65256del, NG_029857.1:g.65256dup, NG_029857.1:g.65255_65256dup, NG_029857.1:g.65254_65256dup, NG_029857.1:g.65253_65256dup, NG_029857.1:g.65252_65256dup, NG_029857.1:g.65251_65256dup, NG_029857.1:g.65250_65256dup, NG_029857.1:g.65249_65256dup, NG_029857.1:g.65248_65256dup, NG_029857.1:g.65247_65256dup, NG_029857.1:g.65246_65256dup, NG_029857.1:g.65245_65256dup, NG_029857.1:g.65244_65256dup, NG_029857.1:g.65243_65256dup, NG_029857.1:g.65242_65256dup

Select item 149136136117.

rs1491361361 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTATTTATTTAATTTCTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:33659060 (GRCh38)
19:34149967 (GRCh37)
Canonical SPDI:: NC_000019.10:33659060:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTATTTAATTTCTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.33659061_33659082T[24]ATTT[2]AATTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.34149967_34149988T[24]ATTT[2]AATTTCTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.2:g.42110_42131T[24]ATTT[2]AATTTCTTTTTTTTTTTTTTTTTTTTTT[1], NG_029857.1:g.42107_42128T[24]ATTT[2]AATTTCTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149135830918.

rs1491358309 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 19:33765513 (GRCh38)
19:34256418 (GRCh37)
Canonical SPDI:: NC_000019.10:33765511:TTT:T,NC_000019.10:33765511:TTT:TT
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000644/56 (GnomAD)
-=0.001718/11 (1000Genomes)
HGVS:: NC_000019.10:g.33765513_33765514del, NC_000019.10:g.33765514del, NC_000019.9:g.34256418_34256419del, NC_000019.9:g.34256419del, NG_029857.2:g.148562_148563del, NG_029857.2:g.148563del, NG_029857.1:g.148558_148559del, NG_029857.1:g.148559del

Select item 149134480519.

rs1491344805 has merged into rs34236738 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:33661876 (GRCh38)
19:34152782 (GRCh37)
Canonical SPDI:: NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:33661867:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHST8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000132/35 (TOPMED)
HGVS:: NC_000019.10:g.33661876_33661887del, NC_000019.10:g.33661877_33661887del, NC_000019.10:g.33661878_33661887del, NC_000019.10:g.33661879_33661887del, NC_000019.10:g.33661880_33661887del, NC_000019.10:g.33661881_33661887del, NC_000019.10:g.33661882_33661887del, NC_000019.10:g.33661883_33661887del, NC_000019.10:g.33661884_33661887del, NC_000019.10:g.33661885_33661887del, NC_000019.10:g.33661886_33661887del, NC_000019.10:g.33661887del, NC_000019.10:g.33661887dup, NC_000019.10:g.33661886_33661887dup, NC_000019.10:g.33661885_33661887dup, NC_000019.10:g.33661884_33661887dup, NC_000019.10:g.33661883_33661887dup, NC_000019.9:g.34152782_34152793del, NC_000019.9:g.34152783_34152793del, NC_000019.9:g.34152784_34152793del, NC_000019.9:g.34152785_34152793del, NC_000019.9:g.34152786_34152793del, NC_000019.9:g.34152787_34152793del, NC_000019.9:g.34152788_34152793del, NC_000019.9:g.34152789_34152793del, NC_000019.9:g.34152790_34152793del, NC_000019.9:g.34152791_34152793del, NC_000019.9:g.34152792_34152793del, NC_000019.9:g.34152793del, NC_000019.9:g.34152793dup, NC_000019.9:g.34152792_34152793dup, NC_000019.9:g.34152791_34152793dup, NC_000019.9:g.34152790_34152793dup, NC_000019.9:g.34152789_34152793dup, NG_029857.2:g.44925_44936del, NG_029857.2:g.44926_44936del, NG_029857.2:g.44927_44936del, NG_029857.2:g.44928_44936del, NG_029857.2:g.44929_44936del, NG_029857.2:g.44930_44936del, NG_029857.2:g.44931_44936del, NG_029857.2:g.44932_44936del, NG_029857.2:g.44933_44936del, NG_029857.2:g.44934_44936del, NG_029857.2:g.44935_44936del, NG_029857.2:g.44936del, NG_029857.2:g.44936dup, NG_029857.2:g.44935_44936dup, NG_029857.2:g.44934_44936dup, NG_029857.2:g.44933_44936dup, NG_029857.2:g.44932_44936dup, NG_029857.1:g.44922_44933del, NG_029857.1:g.44923_44933del, NG_029857.1:g.44924_44933del, NG_029857.1:g.44925_44933del, NG_029857.1:g.44926_44933del, NG_029857.1:g.44927_44933del, NG_029857.1:g.44928_44933del, NG_029857.1:g.44929_44933del, NG_029857.1:g.44930_44933del, NG_029857.1:g.44931_44933del, NG_029857.1:g.44932_44933del, NG_029857.1:g.44933del, NG_029857.1:g.44933dup, NG_029857.1:g.44932_44933dup, NG_029857.1:g.44931_44933dup, NG_029857.1:g.44930_44933dup, NG_029857.1:g.44929_44933dup

Select item 149133707920.

rs1491337079 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:33694093 (GRCh38)
19:34184998 (GRCh37)
Canonical SPDI:: NC_000019.10:33694092:CA:
Gene:: CHST8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.33694093_33694094del, NC_000019.9:g.34184998_34184999del, NG_029857.2:g.77142_77143del, NG_029857.1:g.77138_77139del

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