SNP Links for Gene (Select 9786) - SNP

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Select item 14915814521.

rs1491581452 has merged into rs10597707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:58462257 (GRCh38)
14:58928975 (GRCh37)
Canonical SPDI:: NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58462246:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0214/107 (1000Genomes)
HGVS:: NC_000014.9:g.58462257_58462265del, NC_000014.9:g.58462260_58462265del, NC_000014.9:g.58462261_58462265del, NC_000014.9:g.58462262_58462265del, NC_000014.9:g.58462263_58462265del, NC_000014.9:g.58462264_58462265del, NC_000014.9:g.58462265del, NC_000014.9:g.58462265dup, NC_000014.9:g.58462263_58462265dup, NC_000014.9:g.58462260_58462265dup, NC_000014.8:g.58928975_58928983del, NC_000014.8:g.58928978_58928983del, NC_000014.8:g.58928979_58928983del, NC_000014.8:g.58928980_58928983del, NC_000014.8:g.58928981_58928983del, NC_000014.8:g.58928982_58928983del, NC_000014.8:g.58928983del, NC_000014.8:g.58928983dup, NC_000014.8:g.58928981_58928983dup, NC_000014.8:g.58928978_58928983dup, NG_051335.2:g.39873_39881del, NG_051335.2:g.39876_39881del, NG_051335.2:g.39877_39881del, NG_051335.2:g.39878_39881del, NG_051335.2:g.39879_39881del, NG_051335.2:g.39880_39881del, NG_051335.2:g.39881del, NG_051335.2:g.39881dup, NG_051335.2:g.39879_39881dup, NG_051335.2:g.39876_39881dup

Select item 14915524452.

rs1491552445 [Homo sapiens]

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

Select item 14915134833.

rs1491513483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTCTTATATTTCTTATAT [Show Flanks]
Chromosome:: 14:58518264 (GRCh38)
14:58984983 (GRCh37)
Canonical SPDI:: NC_000014.9:58518264:T:TTTTCTTATATTTCTTATAT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTATATTTCTTATAT=0./0 (ALFA)
TTTTCTTATATTTCTTATA=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58518265T[4]CTTATATTTCTTATAT[1], NC_000014.8:g.58984983T[4]CTTATATTTCTTATAT[1], NG_051335.2:g.95881T[4]CTTATATTTCTTATAT[1]

Select item 14915079724.

rs1491507972 has merged into rs35632146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:58543142 (GRCh38)
14:59009860 (GRCh37)
Canonical SPDI:: NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58543131:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
-=0.4812/2410 (1000Genomes)
HGVS:: NC_000014.9:g.58543142_58543147del, NC_000014.9:g.58543144_58543147del, NC_000014.9:g.58543145_58543147del, NC_000014.9:g.58543146_58543147del, NC_000014.9:g.58543147del, NC_000014.9:g.58543147dup, NC_000014.9:g.58543146_58543147dup, NC_000014.9:g.58543145_58543147dup, NC_000014.9:g.58543144_58543147dup, NC_000014.9:g.58543143_58543147dup, NC_000014.9:g.58543142_58543147dup, NC_000014.8:g.59009860_59009865del, NC_000014.8:g.59009862_59009865del, NC_000014.8:g.59009863_59009865del, NC_000014.8:g.59009864_59009865del, NC_000014.8:g.59009865del, NC_000014.8:g.59009865dup, NC_000014.8:g.59009864_59009865dup, NC_000014.8:g.59009863_59009865dup, NC_000014.8:g.59009862_59009865dup, NC_000014.8:g.59009861_59009865dup, NC_000014.8:g.59009860_59009865dup, NG_051335.2:g.120758_120763del, NG_051335.2:g.120760_120763del, NG_051335.2:g.120761_120763del, NG_051335.2:g.120762_120763del, NG_051335.2:g.120763del, NG_051335.2:g.120763dup, NG_051335.2:g.120762_120763dup, NG_051335.2:g.120761_120763dup, NG_051335.2:g.120760_120763dup, NG_051335.2:g.120759_120763dup, NG_051335.2:g.120758_120763dup

Select item 14914944175.

rs1491494417 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:58543132 (GRCh38)
14:59009851 (GRCh37)
Canonical SPDI:: NC_000014.9:58543132::G
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58543132_58543133insG, NC_000014.8:g.59009850_59009851insG, NG_051335.2:g.120748_120749insG

Select item 14914861716.

rs1491486171 has merged into rs3041104 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:58470090 (GRCh38)
14:58936808 (GRCh37)
Canonical SPDI:: NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:58470076:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0./0 (GENOME_DK)
TG=0.0017/1 (NorthernSweden)
TG=0.0042/21 (1000Genomes)
-=0.0397/153 (ALSPAC)
HGVS:: NC_000014.9:g.58470078GT[6], NC_000014.9:g.58470078GT[7], NC_000014.9:g.58470078GT[8], NC_000014.9:g.58470078GT[9], NC_000014.9:g.58470078GT[11], NC_000014.9:g.58470078GT[16], NC_000014.9:g.58470078GT[17], NC_000014.8:g.58936796GT[6], NC_000014.8:g.58936796GT[7], NC_000014.8:g.58936796GT[8], NC_000014.8:g.58936796GT[9], NC_000014.8:g.58936796GT[11], NC_000014.8:g.58936796GT[16], NC_000014.8:g.58936796GT[17], NG_051335.2:g.47694GT[6], NG_051335.2:g.47694GT[7], NG_051335.2:g.47694GT[8], NG_051335.2:g.47694GT[9], NG_051335.2:g.47694GT[11], NG_051335.2:g.47694GT[16], NG_051335.2:g.47694GT[17]

Select item 14914237827.

rs1491423782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,T,TT [Show Flanks]
Chromosome:: 14:58445781 (GRCh38)
14:58912500 (GRCh37)
Canonical SPDI:: NC_000014.9:58445781:T:TAT,NC_000014.9:58445781:T:TT,NC_000014.9:58445781:T:TTT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000014.9:g.58445782_58445783insAT, NC_000014.9:g.58445782dup, NC_000014.9:g.58445782_58445783insTT, NC_000014.8:g.58912500_58912501insAT, NC_000014.8:g.58912500dup, NC_000014.8:g.58912500_58912501insTT, NG_051335.2:g.23398_23399insAT, NG_051335.2:g.23398dup, NG_051335.2:g.23398_23399insTT

Select item 14913172918.

rs1491317291 has merged into rs35326005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:58480358 (GRCh38)
14:58947076 (GRCh37)
Canonical SPDI:: NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58480346:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.479/2399 (1000Genomes)
HGVS:: NC_000014.9:g.58480358_58480364del, NC_000014.9:g.58480361_58480364del, NC_000014.9:g.58480362_58480364del, NC_000014.9:g.58480363_58480364del, NC_000014.9:g.58480364del, NC_000014.9:g.58480364dup, NC_000014.9:g.58480363_58480364dup, NC_000014.9:g.58480354_58480364dup, NC_000014.8:g.58947076_58947082del, NC_000014.8:g.58947079_58947082del, NC_000014.8:g.58947080_58947082del, NC_000014.8:g.58947081_58947082del, NC_000014.8:g.58947082del, NC_000014.8:g.58947082dup, NC_000014.8:g.58947081_58947082dup, NC_000014.8:g.58947072_58947082dup, NG_051335.2:g.57974_57980del, NG_051335.2:g.57977_57980del, NG_051335.2:g.57978_57980del, NG_051335.2:g.57979_57980del, NG_051335.2:g.57980del, NG_051335.2:g.57980dup, NG_051335.2:g.57979_57980dup, NG_051335.2:g.57970_57980dup

Select item 14913112919.

rs1491311291 has merged into rs34119416 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:58445792 (GRCh38)
14:58912510 (GRCh37)
Canonical SPDI:: NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58445783:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4395/2201 (1000Genomes)
HGVS:: NC_000014.9:g.58445792_58445801del, NC_000014.9:g.58445796_58445801del, NC_000014.9:g.58445797_58445801del, NC_000014.9:g.58445799_58445801del, NC_000014.9:g.58445800_58445801del, NC_000014.9:g.58445801del, NC_000014.9:g.58445801dup, NC_000014.9:g.58445800_58445801dup, NC_000014.9:g.58445799_58445801dup, NC_000014.9:g.58445798_58445801dup, NC_000014.9:g.58445797_58445801dup, NC_000014.9:g.58445796_58445801dup, NC_000014.9:g.58445795_58445801dup, NC_000014.9:g.58445790_58445801dup, NC_000014.8:g.58912510_58912519del, NC_000014.8:g.58912514_58912519del, NC_000014.8:g.58912515_58912519del, NC_000014.8:g.58912517_58912519del, NC_000014.8:g.58912518_58912519del, NC_000014.8:g.58912519del, NC_000014.8:g.58912519dup, NC_000014.8:g.58912518_58912519dup, NC_000014.8:g.58912517_58912519dup, NC_000014.8:g.58912516_58912519dup, NC_000014.8:g.58912515_58912519dup, NC_000014.8:g.58912514_58912519dup, NC_000014.8:g.58912513_58912519dup, NC_000014.8:g.58912508_58912519dup, NG_051335.2:g.23408_23417del, NG_051335.2:g.23412_23417del, NG_051335.2:g.23413_23417del, NG_051335.2:g.23415_23417del, NG_051335.2:g.23416_23417del, NG_051335.2:g.23417del, NG_051335.2:g.23417dup, NG_051335.2:g.23416_23417dup, NG_051335.2:g.23415_23417dup, NG_051335.2:g.23414_23417dup, NG_051335.2:g.23413_23417dup, NG_051335.2:g.23412_23417dup, NG_051335.2:g.23411_23417dup, NG_051335.2:g.23406_23417dup

Select item 149130471210.

rs1491304712 has merged into rs58851367 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:58484936 (GRCh38)
14:58951654 (GRCh37)
Canonical SPDI:: NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58484924:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.58484936_58484951del, NC_000014.9:g.58484938_58484951del, NC_000014.9:g.58484939_58484951del, NC_000014.9:g.58484940_58484951del, NC_000014.9:g.58484941_58484951del, NC_000014.9:g.58484942_58484951del, NC_000014.9:g.58484943_58484951del, NC_000014.9:g.58484944_58484951del, NC_000014.9:g.58484945_58484951del, NC_000014.9:g.58484946_58484951del, NC_000014.9:g.58484947_58484951del, NC_000014.9:g.58484948_58484951del, NC_000014.9:g.58484949_58484951del, NC_000014.9:g.58484950_58484951del, NC_000014.9:g.58484951del, NC_000014.9:g.58484951dup, NC_000014.9:g.58484950_58484951dup, NC_000014.9:g.58484949_58484951dup, NC_000014.9:g.58484948_58484951dup, NC_000014.9:g.58484947_58484951dup, NC_000014.9:g.58484946_58484951dup, NC_000014.9:g.58484945_58484951dup, NC_000014.9:g.58484944_58484951dup, NC_000014.9:g.58484943_58484951dup, NC_000014.8:g.58951654_58951669del, NC_000014.8:g.58951656_58951669del, NC_000014.8:g.58951657_58951669del, NC_000014.8:g.58951658_58951669del, NC_000014.8:g.58951659_58951669del, NC_000014.8:g.58951660_58951669del, NC_000014.8:g.58951661_58951669del, NC_000014.8:g.58951662_58951669del, NC_000014.8:g.58951663_58951669del, NC_000014.8:g.58951664_58951669del, NC_000014.8:g.58951665_58951669del, NC_000014.8:g.58951666_58951669del, NC_000014.8:g.58951667_58951669del, NC_000014.8:g.58951668_58951669del, NC_000014.8:g.58951669del, NC_000014.8:g.58951669dup, NC_000014.8:g.58951668_58951669dup, NC_000014.8:g.58951667_58951669dup, NC_000014.8:g.58951666_58951669dup, NC_000014.8:g.58951665_58951669dup, NC_000014.8:g.58951664_58951669dup, NC_000014.8:g.58951663_58951669dup, NC_000014.8:g.58951662_58951669dup, NC_000014.8:g.58951661_58951669dup, NG_051335.2:g.62552_62567del, NG_051335.2:g.62554_62567del, NG_051335.2:g.62555_62567del, NG_051335.2:g.62556_62567del, NG_051335.2:g.62557_62567del, NG_051335.2:g.62558_62567del, NG_051335.2:g.62559_62567del, NG_051335.2:g.62560_62567del, NG_051335.2:g.62561_62567del, NG_051335.2:g.62562_62567del, NG_051335.2:g.62563_62567del, NG_051335.2:g.62564_62567del, NG_051335.2:g.62565_62567del, NG_051335.2:g.62566_62567del, NG_051335.2:g.62567del, NG_051335.2:g.62567dup, NG_051335.2:g.62566_62567dup, NG_051335.2:g.62565_62567dup, NG_051335.2:g.62564_62567dup, NG_051335.2:g.62563_62567dup, NG_051335.2:g.62562_62567dup, NG_051335.2:g.62561_62567dup, NG_051335.2:g.62560_62567dup, NG_051335.2:g.62559_62567dup

Select item 149128374911.

rs1491283749 has merged into rs140476366 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 14:58445142 (GRCh38)
14:58911860 (GRCh37)
Canonical SPDI:: NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000014.9:58445126:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACACACA=0./0 (ALFA)
AC=0.11242/563 (1000Genomes)
AC=0.15/6 (GENOME_DK)
AC=0.17333/104 (NorthernSweden)
HGVS:: NC_000014.9:g.58445128CA[7], NC_000014.9:g.58445128CA[8], NC_000014.9:g.58445128CA[9], NC_000014.9:g.58445128CA[10], NC_000014.9:g.58445128CA[12], NC_000014.9:g.58445128CA[13], NC_000014.9:g.58445128CA[14], NC_000014.9:g.58445128CA[16], NC_000014.8:g.58911846CA[7], NC_000014.8:g.58911846CA[8], NC_000014.8:g.58911846CA[9], NC_000014.8:g.58911846CA[10], NC_000014.8:g.58911846CA[12], NC_000014.8:g.58911846CA[13], NC_000014.8:g.58911846CA[14], NC_000014.8:g.58911846CA[16], NG_051335.2:g.22744CA[7], NG_051335.2:g.22744CA[8], NG_051335.2:g.22744CA[9], NG_051335.2:g.22744CA[10], NG_051335.2:g.22744CA[12], NG_051335.2:g.22744CA[13], NG_051335.2:g.22744CA[14], NG_051335.2:g.22744CA[16]

Select item 149126922912.

rs1491269229 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,AAATATA,AAATATATA,AAATATATATA,ACATA,ATA,ATATA,ATATATA,ATATATAC,ATATATATATATATA,ATATATATATATATATATATATA,ATTTATATATATTTTTATATATATATATATATATATA [Show Flanks]
Chromosome:: 14:58484925 (GRCh38)
14:58951644 (GRCh37)
Canonical SPDI:: NC_000014.9:58484925::A,NC_000014.9:58484925::AAA,NC_000014.9:58484925::AAATATA,NC_000014.9:58484925::AAATATATA,NC_000014.9:58484925::AAATATATATA,NC_000014.9:58484925::ACATA,NC_000014.9:58484925::ATA,NC_000014.9:58484925::ATATA,NC_000014.9:58484925::ATATATA,NC_000014.9:58484925::ATATATAC,NC_000014.9:58484925::ATATATATATATATA,NC_000014.9:58484925::ATATATATATATATATATATATA,NC_000014.9:58484925::ATTTATATATATTTTTATATATATATATATATATATA
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATATA=0./0 (ALFA)
A=0.04475/46 (Korea1K)
HGVS:: NC_000014.9:g.58484925_58484926insA, NC_000014.9:g.58484925_58484926insAAA, NC_000014.9:g.58484925_58484926insAAATATA, NC_000014.9:g.58484925_58484926insAAATATATA, NC_000014.9:g.58484925_58484926insAAATATATATA, NC_000014.9:g.58484925_58484926insACATA, NC_000014.9:g.58484925_58484926insATA, NC_000014.9:g.58484925_58484926insATATA, NC_000014.9:g.58484925_58484926insATATATA, NC_000014.9:g.58484925_58484926insATATATAC, NC_000014.9:g.58484925_58484926insATATATATATATATA, NC_000014.9:g.58484925_58484926insATATATATATATATATATATATA, NC_000014.9:g.58484925_58484926insATTTATATATATTTTTATATATATATATATATATATA, NC_000014.8:g.58951643_58951644insA, NC_000014.8:g.58951643_58951644insAAA, NC_000014.8:g.58951643_58951644insAAATATA, NC_000014.8:g.58951643_58951644insAAATATATA, NC_000014.8:g.58951643_58951644insAAATATATATA, NC_000014.8:g.58951643_58951644insACATA, NC_000014.8:g.58951643_58951644insATA, NC_000014.8:g.58951643_58951644insATATA, NC_000014.8:g.58951643_58951644insATATATA, NC_000014.8:g.58951643_58951644insATATATAC, NC_000014.8:g.58951643_58951644insATATATATATATATA, NC_000014.8:g.58951643_58951644insATATATATATATATATATATATA, NC_000014.8:g.58951643_58951644insATTTATATATATTTTTATATATATATATATATATATA, NG_051335.2:g.62541_62542insA, NG_051335.2:g.62541_62542insAAA, NG_051335.2:g.62541_62542insAAATATA, NG_051335.2:g.62541_62542insAAATATATA, NG_051335.2:g.62541_62542insAAATATATATA, NG_051335.2:g.62541_62542insACATA, NG_051335.2:g.62541_62542insATA, NG_051335.2:g.62541_62542insATATA, NG_051335.2:g.62541_62542insATATATA, NG_051335.2:g.62541_62542insATATATAC, NG_051335.2:g.62541_62542insATATATATATATATA, NG_051335.2:g.62541_62542insATATATATATATATATATATATA, NG_051335.2:g.62541_62542insATTTATATATATTTTTATATATATATATATATATATA

Select item 149124964213.

rs1491249642 has merged into rs1555398616 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 14:58507256 (GRCh38)
14:58973974 (GRCh37)
Canonical SPDI:: NC_000014.9:58507254:TGT:T,NC_000014.9:58507254:TGT:TGTGT
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000014.9:g.58507256_58507257del, NC_000014.9:g.58507256_58507257dup, NC_000014.8:g.58973974_58973975del, NC_000014.8:g.58973974_58973975dup, NG_051335.2:g.84872_84873del, NG_051335.2:g.84872_84873dup

Select item 149124327414.

rs1491243274 has merged into rs71107947 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:58437713 (GRCh38)
14:58904431 (GRCh37)
Canonical SPDI:: NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58437704:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000014.9:g.58437713_58437729del, NC_000014.9:g.58437716_58437729del, NC_000014.9:g.58437717_58437729del, NC_000014.9:g.58437718_58437729del, NC_000014.9:g.58437719_58437729del, NC_000014.9:g.58437720_58437729del, NC_000014.9:g.58437721_58437729del, NC_000014.9:g.58437722_58437729del, NC_000014.9:g.58437723_58437729del, NC_000014.9:g.58437724_58437729del, NC_000014.9:g.58437725_58437729del, NC_000014.9:g.58437726_58437729del, NC_000014.9:g.58437727_58437729del, NC_000014.9:g.58437728_58437729del, NC_000014.9:g.58437729del, NC_000014.9:g.58437729dup, NC_000014.9:g.58437728_58437729dup, NC_000014.9:g.58437727_58437729dup, NC_000014.9:g.58437726_58437729dup, NC_000014.9:g.58437724_58437729dup, NC_000014.9:g.58437723_58437729dup, NC_000014.9:g.58437722_58437729dup, NC_000014.9:g.58437709_58437729dup, NC_000014.9:g.58437729_58437730insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.58904431_58904447del, NC_000014.8:g.58904434_58904447del, NC_000014.8:g.58904435_58904447del, NC_000014.8:g.58904436_58904447del, NC_000014.8:g.58904437_58904447del, NC_000014.8:g.58904438_58904447del, NC_000014.8:g.58904439_58904447del, NC_000014.8:g.58904440_58904447del, NC_000014.8:g.58904441_58904447del, NC_000014.8:g.58904442_58904447del, NC_000014.8:g.58904443_58904447del, NC_000014.8:g.58904444_58904447del, NC_000014.8:g.58904445_58904447del, NC_000014.8:g.58904446_58904447del, NC_000014.8:g.58904447del, NC_000014.8:g.58904447dup, NC_000014.8:g.58904446_58904447dup, NC_000014.8:g.58904445_58904447dup, NC_000014.8:g.58904444_58904447dup, NC_000014.8:g.58904442_58904447dup, NC_000014.8:g.58904441_58904447dup, NC_000014.8:g.58904440_58904447dup, NC_000014.8:g.58904427_58904447dup, NC_000014.8:g.58904447_58904448insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051335.2:g.15329_15345del, NG_051335.2:g.15332_15345del, NG_051335.2:g.15333_15345del, NG_051335.2:g.15334_15345del, NG_051335.2:g.15335_15345del, NG_051335.2:g.15336_15345del, NG_051335.2:g.15337_15345del, NG_051335.2:g.15338_15345del, NG_051335.2:g.15339_15345del, NG_051335.2:g.15340_15345del, NG_051335.2:g.15341_15345del, NG_051335.2:g.15342_15345del, NG_051335.2:g.15343_15345del, NG_051335.2:g.15344_15345del, NG_051335.2:g.15345del, NG_051335.2:g.15345dup, NG_051335.2:g.15344_15345dup, NG_051335.2:g.15343_15345dup, NG_051335.2:g.15342_15345dup, NG_051335.2:g.15340_15345dup, NG_051335.2:g.15339_15345dup, NG_051335.2:g.15338_15345dup, NG_051335.2:g.15325_15345dup, NG_051335.2:g.15345_15346insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149124273515.

rs1491242735 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:58518264 (GRCh38)
14:58984982 (GRCh37)
Canonical SPDI:: NC_000014.9:58518263:TT:
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58518264_58518265del, NC_000014.8:g.58984982_58984983del, NG_051335.2:g.95880_95881del

Select item 149122953616.

rs1491229536 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:58437704 (GRCh38)
14:58904422 (GRCh37)
Canonical SPDI:: NC_000014.9:58437703:CA:
Gene:: KIAA0586 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/8 (ALFA)
-=0.00148/41 (TOMMO)
HGVS:: NC_000014.9:g.58437704_58437705del, NC_000014.8:g.58904422_58904423del, NG_051335.2:g.15320_15321del

Select item 149122794517.

rs1491227945 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:58462246 (GRCh38)
14:58928964 (GRCh37)
Canonical SPDI:: NC_000014.9:58462245:CT:
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.58462246_58462247del, NC_000014.8:g.58928964_58928965del, NG_051335.2:g.39862_39863del

Select item 149114006318.

rs1491140063 [Homo sapiens]

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

Select item 149112266119.

rs1491122661 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:58470076 (GRCh38)
14:58936794 (GRCh37)
Canonical SPDI:: NC_000014.9:58470075:AT:
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00038/4 (GnomAD)
-=0.00112/2 (Korea1K)
HGVS:: NC_000014.9:g.58470076_58470077del, NC_000014.8:g.58936794_58936795del, NG_051335.2:g.47692_47693del

Select item 149111299520.

rs1491112995 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:58494328 (GRCh38)
14:58961047 (GRCh37)
Canonical SPDI:: NC_000014.9:58494328:G:GG
Gene:: KIAA0586 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58494329dup, NC_000014.8:g.58961047dup, NG_051335.2:g.71945dup

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