SNP Links for Gene (Select 53905) - SNP

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Select item 14915497931.

rs1491549793 [Homo sapiens]

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

Select item 14915493912.

rs1491549391 has merged into rs5812287 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 15:45141764 (GRCh38)
15:45433962 (GRCh37)
Canonical SPDI:: NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45141751:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000015.10:g.45141752GT[6], NC_000015.10:g.45141752GT[7], NC_000015.10:g.45141752GT[8], NC_000015.10:g.45141752GT[9], NC_000015.10:g.45141752GT[10], NC_000015.10:g.45141752GT[11], NC_000015.10:g.45141752GT[12], NC_000015.10:g.45141752GT[13], NC_000015.10:g.45141752GT[14], NC_000015.10:g.45141752GT[15], NC_000015.10:g.45141752GT[17], NC_000015.10:g.45141752GT[18], NC_000015.10:g.45141752GT[19], NC_000015.10:g.45141752GT[20], NC_000015.10:g.45141752GT[21], NC_000015.10:g.45141752GT[23], NC_000015.9:g.45433950GT[6], NC_000015.9:g.45433950GT[7], NC_000015.9:g.45433950GT[8], NC_000015.9:g.45433950GT[9], NC_000015.9:g.45433950GT[10], NC_000015.9:g.45433950GT[11], NC_000015.9:g.45433950GT[12], NC_000015.9:g.45433950GT[13], NC_000015.9:g.45433950GT[14], NC_000015.9:g.45433950GT[15], NC_000015.9:g.45433950GT[17], NC_000015.9:g.45433950GT[18], NC_000015.9:g.45433950GT[19], NC_000015.9:g.45433950GT[20], NC_000015.9:g.45433950GT[21], NC_000015.9:g.45433950GT[23]

Select item 14915018453.

rs1491501845 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:45154595 (GRCh38)
15:45446793 (GRCh37)
Canonical SPDI:: NC_000015.10:45154594:GT:
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/1 (GnomAD)
HGVS:: NC_000015.10:g.45154595_45154596del, NC_000015.9:g.45446793_45446794del

Select item 14914864304.

rs1491486430 has merged into rs58522871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:45158711 (GRCh38)
15:45450909 (GRCh37)
Canonical SPDI:: NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45158700:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000015.10:g.45158711_45158729del, NC_000015.10:g.45158713_45158729del, NC_000015.10:g.45158714_45158729del, NC_000015.10:g.45158715_45158729del, NC_000015.10:g.45158716_45158729del, NC_000015.10:g.45158717_45158729del, NC_000015.10:g.45158718_45158729del, NC_000015.10:g.45158719_45158729del, NC_000015.10:g.45158720_45158729del, NC_000015.10:g.45158721_45158729del, NC_000015.10:g.45158722_45158729del, NC_000015.10:g.45158723_45158729del, NC_000015.10:g.45158724_45158729del, NC_000015.10:g.45158725_45158729del, NC_000015.10:g.45158726_45158729del, NC_000015.10:g.45158727_45158729del, NC_000015.10:g.45158728_45158729del, NC_000015.10:g.45158729del, NC_000015.10:g.45158729dup, NC_000015.10:g.45158728_45158729dup, NC_000015.10:g.45158727_45158729dup, NC_000015.10:g.45158726_45158729dup, NC_000015.10:g.45158723_45158729dup, NC_000015.10:g.45158715_45158729dup, NC_000015.10:g.45158706_45158729dup, NC_000015.9:g.45450909_45450927del, NC_000015.9:g.45450911_45450927del, NC_000015.9:g.45450912_45450927del, NC_000015.9:g.45450913_45450927del, NC_000015.9:g.45450914_45450927del, NC_000015.9:g.45450915_45450927del, NC_000015.9:g.45450916_45450927del, NC_000015.9:g.45450917_45450927del, NC_000015.9:g.45450918_45450927del, NC_000015.9:g.45450919_45450927del, NC_000015.9:g.45450920_45450927del, NC_000015.9:g.45450921_45450927del, NC_000015.9:g.45450922_45450927del, NC_000015.9:g.45450923_45450927del, NC_000015.9:g.45450924_45450927del, NC_000015.9:g.45450925_45450927del, NC_000015.9:g.45450926_45450927del, NC_000015.9:g.45450927del, NC_000015.9:g.45450927dup, NC_000015.9:g.45450926_45450927dup, NC_000015.9:g.45450925_45450927dup, NC_000015.9:g.45450924_45450927dup, NC_000015.9:g.45450921_45450927dup, NC_000015.9:g.45450913_45450927dup, NC_000015.9:g.45450904_45450927dup

Select item 14914111095.

rs1491411109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GAAGGAAGG,GAAGGAAGGAAGG,GAAGGAAGGAAGGAAGGAAGGAAGGAGG,GAAGGAAGGAGG [Show Flanks]
Chromosome:: 15:45142810 (GRCh38)
15:45435009 (GRCh37)
Canonical SPDI:: NC_000015.10:45142810:G:GG,NC_000015.10:45142810:G:GGAAGGAAGG,NC_000015.10:45142810:G:GGAAGGAAGGAAGG,NC_000015.10:45142810:G:GGAAGGAAGGAAGGAAGGAAGGAAGGAGG,NC_000015.10:45142810:G:GGAAGGAAGGAGG
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.00018/3 (ALFA)
G=0.00609/102 (TOMMO)
G=0.00655/12 (Korea1K)
HGVS:: NC_000015.10:g.45142811dup, NC_000015.10:g.45142811GGAA[2]GG[1], NC_000015.10:g.45142811GGAA[3]GG[1], NC_000015.10:g.45142811GGAA[6]GGAGG[1], NC_000015.10:g.45142811GGAA[2]GGAGG[1], NC_000015.9:g.45435009dup, NC_000015.9:g.45435009GGAA[2]GG[1], NC_000015.9:g.45435009GGAA[3]GG[1], NC_000015.9:g.45435009GGAA[6]GGAGG[1], NC_000015.9:g.45435009GGAA[2]GGAGG[1]

Select item 14913258626.

rs1491325862 has merged into rs58154992 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 15:45153510 (GRCh38)
15:45445708 (GRCh37)
Canonical SPDI:: NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:45153494:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000015.10:g.45153496GT[7], NC_000015.10:g.45153496GT[9], NC_000015.10:g.45153496GT[10], NC_000015.10:g.45153496GT[11], NC_000015.10:g.45153496GT[12], NC_000015.10:g.45153496GT[13], NC_000015.10:g.45153496GT[14], NC_000015.10:g.45153496GT[15], NC_000015.10:g.45153496GT[16], NC_000015.10:g.45153496GT[17], NC_000015.10:g.45153496GT[18], NC_000015.10:g.45153496GT[19], NC_000015.10:g.45153496GT[20], NC_000015.10:g.45153496GT[21], NC_000015.10:g.45153496GT[22], NC_000015.10:g.45153496GT[23], NC_000015.10:g.45153496GT[24], NC_000015.10:g.45153496GT[25], NC_000015.10:g.45153496GT[27], NC_000015.10:g.45153496GT[28], NC_000015.10:g.45153496GT[29], NC_000015.10:g.45153496GT[30], NC_000015.10:g.45153496GT[31], NC_000015.10:g.45153496GT[32], NC_000015.9:g.45445694GT[7], NC_000015.9:g.45445694GT[9], NC_000015.9:g.45445694GT[10], NC_000015.9:g.45445694GT[11], NC_000015.9:g.45445694GT[12], NC_000015.9:g.45445694GT[13], NC_000015.9:g.45445694GT[14], NC_000015.9:g.45445694GT[15], NC_000015.9:g.45445694GT[16], NC_000015.9:g.45445694GT[17], NC_000015.9:g.45445694GT[18], NC_000015.9:g.45445694GT[19], NC_000015.9:g.45445694GT[20], NC_000015.9:g.45445694GT[21], NC_000015.9:g.45445694GT[22], NC_000015.9:g.45445694GT[23], NC_000015.9:g.45445694GT[24], NC_000015.9:g.45445694GT[25], NC_000015.9:g.45445694GT[27], NC_000015.9:g.45445694GT[28], NC_000015.9:g.45445694GT[29], NC_000015.9:g.45445694GT[30], NC_000015.9:g.45445694GT[31], NC_000015.9:g.45445694GT[32]

Select item 14913156877.

rs1491315687 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 15:45132959 (GRCh38)
15:45425158 (GRCh37)
Canonical SPDI:: NC_000015.10:45132959::CG
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
CG=0.000007/1 (GnomAD)
CG=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.45132959_45132960insCG, NC_000015.9:g.45425157_45425158insCG, NG_033105.2:g.1918_1919insCG

Select item 14912593208.

rs1491259320 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:45153219 (GRCh38)
15:45445417 (GRCh37)
Canonical SPDI:: NC_000015.10:45153218:TA:
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.45153219_45153220del, NC_000015.9:g.45445417_45445418del

Select item 14912386399.

rs1491238639 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 15:45154595 (GRCh38)
15:45446794 (GRCh37)
Canonical SPDI:: NC_000015.10:45154595::ATT
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATT=0./0 (ALFA)
HGVS:: NC_000015.10:g.45154595_45154596insATT, NC_000015.9:g.45446793_45446794insATT

Select item 149119053010.

rs1491190530 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:45158700 (GRCh38)
15:45450898 (GRCh37)
Canonical SPDI:: NC_000015.10:45158699:CA:
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00034/9 (TOMMO)
HGVS:: NC_000015.10:g.45158700_45158701del, NC_000015.9:g.45450898_45450899del

Select item 149117625311.

rs1491176253 has merged into rs71114313 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:45153230 (GRCh38)
15:45445428 (GRCh37)
Canonical SPDI:: NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45153219:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.45153230_45153245del, NC_000015.10:g.45153231_45153245del, NC_000015.10:g.45153232_45153245del, NC_000015.10:g.45153234_45153245del, NC_000015.10:g.45153235_45153245del, NC_000015.10:g.45153236_45153245del, NC_000015.10:g.45153237_45153245del, NC_000015.10:g.45153238_45153245del, NC_000015.10:g.45153239_45153245del, NC_000015.10:g.45153240_45153245del, NC_000015.10:g.45153241_45153245del, NC_000015.10:g.45153242_45153245del, NC_000015.10:g.45153243_45153245del, NC_000015.10:g.45153244_45153245del, NC_000015.10:g.45153245del, NC_000015.10:g.45153245dup, NC_000015.10:g.45153244_45153245dup, NC_000015.10:g.45153243_45153245dup, NC_000015.10:g.45153242_45153245dup, NC_000015.9:g.45445428_45445443del, NC_000015.9:g.45445429_45445443del, NC_000015.9:g.45445430_45445443del, NC_000015.9:g.45445432_45445443del, NC_000015.9:g.45445433_45445443del, NC_000015.9:g.45445434_45445443del, NC_000015.9:g.45445435_45445443del, NC_000015.9:g.45445436_45445443del, NC_000015.9:g.45445437_45445443del, NC_000015.9:g.45445438_45445443del, NC_000015.9:g.45445439_45445443del, NC_000015.9:g.45445440_45445443del, NC_000015.9:g.45445441_45445443del, NC_000015.9:g.45445442_45445443del, NC_000015.9:g.45445443del, NC_000015.9:g.45445443dup, NC_000015.9:g.45445442_45445443dup, NC_000015.9:g.45445441_45445443dup, NC_000015.9:g.45445440_45445443dup

Select item 149117377012.

rs1491173770 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAG [Show Flanks]
Chromosome:: 15:45142809 (GRCh38)
15:45435008 (GRCh37)
Canonical SPDI:: NC_000015.10:45142809:AGAG:AGAGAGAG
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGAGAG=0./0 (ALFA)
HGVS:: NC_000015.10:g.45142810AG[4], NC_000015.9:g.45435008AG[4]

Select item 149109989313.

rs1491099893 [Homo sapiens]

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

Select item 149105610814.

rs1491056108 has merged into rs11306605 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 15:45153897 (GRCh38)
15:45446095 (GRCh37)
Canonical SPDI:: NC_000015.10:45153886:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:45153886:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:45153886:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:45153886:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:45153886:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:45153886:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.007/13 (1000Genomes)
A=0.0861/332 (ALSPAC)
A=0.0863/320 (TWINSUK)
A=0.175/7 (GENOME_DK)
HGVS:: NC_000015.10:g.45153897_45153900del, NC_000015.10:g.45153898_45153900del, NC_000015.10:g.45153899_45153900del, NC_000015.10:g.45153900del, NC_000015.10:g.45153900dup, NC_000015.10:g.45153899_45153900dup, NC_000015.9:g.45446095_45446098del, NC_000015.9:g.45446096_45446098del, NC_000015.9:g.45446097_45446098del, NC_000015.9:g.45446098del, NC_000015.9:g.45446098dup, NC_000015.9:g.45446097_45446098dup

Select item 149103379715.

rs1491033797 has merged into rs10713694 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 15:45145929 (GRCh38)
15:45438127 (GRCh37)
Canonical SPDI:: NC_000015.10:45145918:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:45145918:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:45145918:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:45145918:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:45145918:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
-=0.254854/945 (TWINSUK)
-=0.259211/999 (ALSPAC)
-=0.301213/79728 (TOPMED)
-=0.34/204 (NorthernSweden)
-=0.420549/1977 (1000Genomes)
HGVS:: NC_000015.10:g.45145929_45145931del, NC_000015.10:g.45145930_45145931del, NC_000015.10:g.45145931del, NC_000015.10:g.45145931dup, NC_000015.10:g.45145930_45145931dup, NC_000015.9:g.45438127_45438129del, NC_000015.9:g.45438128_45438129del, NC_000015.9:g.45438129del, NC_000015.9:g.45438129dup, NC_000015.9:g.45438128_45438129dup

Select item 149086093316.

rs1490860933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45151781 (GRCh38)
15:45443979 (GRCh37)
Canonical SPDI:: NC_000015.10:45151780:C:T
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45151781C>T, NC_000015.9:g.45443979C>T, XR_007064606.1:n.100G>A, XR_007064607.1:n.100G>A

Select item 149082966917.

rs1490829669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:45149306 (GRCh38)
15:45441504 (GRCh37)
Canonical SPDI:: NC_000015.10:45149305:C:A
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45149306C>A, NC_000015.9:g.45441504C>A

Select item 149077027118.

rs1490770271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45133864 (GRCh38)
15:45426062 (GRCh37)
Canonical SPDI:: NC_000015.10:45133863:G:A
Gene:: DUOX1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.45133864G>A, NC_000015.9:g.45426062G>A, NG_033105.2:g.1014C>T, NM_017434.5:c.59G>A, NM_017434.4:c.59G>A, NM_017434.3:c.59G>A, NM_175940.3:c.59G>A, NM_175940.2:c.59G>A, NM_175940.1:c.59G>A, XM_011521681.3:c.-59G>A, XM_011521681.2:c.-59G>A, XM_011521681.1:c.-59G>A, XM_047432690.1:c.59G>A, XM_047432693.1:c.59G>A, XM_047432692.1:c.59G>A, XM_047432691.1:c.59G>A, NP_059130.2:p.Gly20Glu, NP_787954.1:p.Gly20Glu, XP_047288646.1:p.Gly20Glu, XP_047288649.1:p.Gly20Glu, XP_047288648.1:p.Gly20Glu, XP_047288647.1:p.Gly20Glu

Select item 149029760319.

rs1490297603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45158775 (GRCh38)
15:45450973 (GRCh37)
Canonical SPDI:: NC_000015.10:45158774:C:T
Gene:: DUOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.45158775C>T, NC_000015.9:g.45450973C>T

Select item 149015057920.

rs1490150579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45152561 (GRCh38)
15:45444759 (GRCh37)
Canonical SPDI:: NC_000015.10:45152560:C:T
Gene:: DUOX1 (Varview), LOC124903480 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45152561C>T, NC_000015.9:g.45444759C>T

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