SNP Links for Gene (Select 50506) - SNP

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Select item 14906806671.

rs1490680667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45098105 (GRCh38)
15:45390303 (GRCh37)
Canonical SPDI:: NC_000015.10:45098104:T:C
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.45098105T>C, NC_000015.9:g.45390303T>C, NG_009447.1:g.21057A>G

Select item 14904599982.

rs1490459998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:45111123 (GRCh38)
15:45403321 (GRCh37)
Canonical SPDI:: NC_000015.10:45111122:G:T
Gene:: DUOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45111123G>T, NC_000015.9:g.45403321G>T, NG_009447.1:g.8039C>A, NM_014080.5:c.870C>A, NM_014080.4:c.870C>A, NM_001363711.2:c.870C>A, NM_001363711.1:c.870C>A, NG_016992.1:g.1799G>T

Select item 14903599843.

rs1490359984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45097090 (GRCh38)
15:45389288 (GRCh37)
Canonical SPDI:: NC_000015.10:45097089:G:A
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45097090G>A, NC_000015.9:g.45389288G>A, NG_009447.1:g.22072C>T

Select item 14900871434.

rs1490087143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45111946 (GRCh38)
15:45404144 (GRCh37)
Canonical SPDI:: NC_000015.10:45111945:A:G
Gene:: DUOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45111946A>G, NC_000015.9:g.45404144A>G, NG_009447.1:g.7216T>C, NM_014080.5:c.335T>C, NM_014080.4:c.335T>C, NM_001363711.2:c.335T>C, NM_001363711.1:c.335T>C, NG_016992.1:g.2622A>G, NP_054799.4:p.Val112Ala, NP_001350640.1:p.Val112Ala

Select item 14899205985.

rs1489920598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45098511 (GRCh38)
15:45390709 (GRCh37)
Canonical SPDI:: NC_000015.10:45098510:T:C
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45098511T>C, NC_000015.9:g.45390709T>C, NG_009447.1:g.20651A>G

Select item 14896969416.

rs1489696941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45094557 (GRCh38)
15:45386755 (GRCh37)
Canonical SPDI:: NC_000015.10:45094556:A:G
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.45094557A>G, NC_000015.9:g.45386755A>G, NG_009447.1:g.24605T>C

Select item 14896588307.

rs1489658830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:45099372 (GRCh38)
15:45391570 (GRCh37)
Canonical SPDI:: NC_000015.10:45099371:C:G
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45099372C>G, NC_000015.9:g.45391570C>G, NG_009447.1:g.19790G>C

Select item 14896277018.

rs1489627701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:45097193 (GRCh38)
15:45389391 (GRCh37)
Canonical SPDI:: NC_000015.10:45097192:T:G
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45097193T>G, NC_000015.9:g.45389391T>G, NG_009447.1:g.21969A>C

Select item 14895656369.

rs1489565636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45114804 (GRCh38)
15:45407002 (GRCh37)
Canonical SPDI:: NC_000015.10:45114803:T:C
Gene:: DUOX2 (Varview), DUOXA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45114804T>C, NC_000015.9:g.45407002T>C, NG_009447.1:g.4358A>G, NG_016992.1:g.5480T>C

Select item 148955875610.

rs1489558756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45113336 (GRCh38)
15:45405534 (GRCh37)
Canonical SPDI:: NC_000015.10:45113335:A:G
Gene:: DUOX2 (Varview), DUOXA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,splice_donor_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.45113336A>G, NC_000015.9:g.45405534A>G, NG_009447.1:g.5826T>C, NG_016992.1:g.4012A>G

Select item 148924358711.

rs1489243587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:45101779 (GRCh38)
15:45393977 (GRCh37)
Canonical SPDI:: NC_000015.10:45101778:C:G
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.45101779C>G, NC_000015.9:g.45393977C>G, NG_009447.1:g.17383G>C

Select item 148879885612.

rs1488798856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:45112789 (GRCh38)
15:45404987 (GRCh37)
Canonical SPDI:: NC_000015.10:45112788:C:G
Gene:: DUOX2 (Varview), DUOXA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45112789C>G, NC_000015.9:g.45404987C>G, NG_009447.1:g.6373G>C, NG_016992.1:g.3465C>G

Select item 148871595413.

rs1488715954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45108900 (GRCh38)
15:45401098 (GRCh37)
Canonical SPDI:: NC_000015.10:45108899:G:A
Gene:: DUOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45108900G>A, NC_000015.9:g.45401098G>A, NG_009447.1:g.10262C>T, NM_014080.5:c.1287C>T, NM_014080.4:c.1287C>T, NM_001363711.2:c.1287C>T, NM_001363711.1:c.1287C>T

Select item 148865193914.

rs1488651939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:45095018 (GRCh38)
15:45387216 (GRCh37)
Canonical SPDI:: NC_000015.10:45095017:T:G
Gene:: DUOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.45095018T>G, NC_000015.9:g.45387216T>G, NG_009447.1:g.24144A>C, NM_014080.5:c.4313A>C, NM_014080.4:c.4313A>C, NM_001363711.2:c.4313A>C, NM_001363711.1:c.4313A>C, NP_054799.4:p.Glu1438Ala, NP_001350640.1:p.Glu1438Ala

Select item 148850092915.

rs1488500929 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCGTTCTATGCAGCCCAGG>- [Show Flanks]
Chromosome:: 15:45105570 (GRCh38)
15:45397768 (GRCh37)
Canonical SPDI:: NC_000015.10:45105565:CAGGGGCGTTCTATGCAGCCCAGG:CAGG
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.45105570_45105589del, NC_000015.9:g.45397768_45397787del, NG_009447.1:g.13577_13596del

Select item 148819966016.

rs1488199660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:45112288 (GRCh38)
15:45404486 (GRCh37)
Canonical SPDI:: NC_000015.10:45112287:G:C,NC_000015.10:45112287:G:T
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45112288G>C, NC_000015.10:g.45112288G>T, NC_000015.9:g.45404486G>C, NC_000015.9:g.45404486G>T, NG_009447.1:g.6874C>G, NG_009447.1:g.6874C>A, NG_016992.1:g.2964G>C, NG_016992.1:g.2964G>T

Select item 148804104217.

rs1488041042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45100779 (GRCh38)
15:45392977 (GRCh37)
Canonical SPDI:: NC_000015.10:45100778:C:T
Gene:: DUOX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45100779C>T, NC_000015.9:g.45392977C>T, NG_009447.1:g.18383G>A, NM_014080.5:c.2981G>A, NM_014080.4:c.2981G>A, NM_001363711.2:c.2981G>A, NM_001363711.1:c.2981G>A, NP_054799.4:p.Gly994Glu, NP_001350640.1:p.Gly994Glu

Select item 148778369718.

rs1487783697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45096423 (GRCh38)
15:45388621 (GRCh37)
Canonical SPDI:: NC_000015.10:45096422:C:T
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_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.45096423C>T, NC_000015.9:g.45388621C>T, NG_009447.1:g.22739G>A

Select item 148765513719.

rs1487655137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:45097817 (GRCh38)
15:45390015 (GRCh37)
Canonical SPDI:: NC_000015.10:45097816:C:A
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000177/3 (TOMMO)
A=0.001027/3 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000015.10:g.45097817C>A, NC_000015.9:g.45390015C>A, NG_009447.1:g.21345G>T

Select item 148764538920.

rs1487645389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45112058 (GRCh38)
15:45404256 (GRCh37)
Canonical SPDI:: NC_000015.10:45112057:C:T
Gene:: DUOX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.45112058C>T, NC_000015.9:g.45404256C>T, NG_009447.1:g.7104G>A, NG_016992.1:g.2734C>T

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