SNP Links for Nucleotide (Select 306482681) - SNP

Links from Nucleotide

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Select item 14914184291.

rs1491418429 [Homo sapiens]

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

Select item 14913858452.

rs1491385845 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:82038606 (GRCh38)
17:79996483 (GRCh37)
Canonical SPDI:: NC_000017.11:82038606::G
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000017.11:g.82038606_82038607insG, NC_000017.10:g.79996482_79996483insG, NG_027681.1:g.4091_4092insC

Select item 14912848973.

rs1491284897 has merged into rs760111328 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:82040882 (GRCh38)
17:79998758 (GRCh37)
Canonical SPDI:: NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82040871:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.0039/65 (TOMMO)
HGVS:: NC_000017.11:g.82040882_82040893del, NC_000017.11:g.82040883_82040893del, NC_000017.11:g.82040884_82040893del, NC_000017.11:g.82040886_82040893del, NC_000017.11:g.82040887_82040893del, NC_000017.11:g.82040888_82040893del, NC_000017.11:g.82040889_82040893del, NC_000017.11:g.82040890_82040893del, NC_000017.11:g.82040891_82040893del, NC_000017.11:g.82040892_82040893del, NC_000017.11:g.82040893del, NC_000017.11:g.82040893dup, NC_000017.11:g.82040892_82040893dup, NC_000017.11:g.82040891_82040893dup, NC_000017.11:g.82040890_82040893dup, NC_000017.11:g.82040889_82040893dup, NC_000017.11:g.82040888_82040893dup, NC_000017.11:g.82040887_82040893dup, NC_000017.11:g.82040886_82040893dup, NC_000017.11:g.82040881_82040893dup, NC_000017.10:g.79998758_79998769del, NC_000017.10:g.79998759_79998769del, NC_000017.10:g.79998760_79998769del, NC_000017.10:g.79998762_79998769del, NC_000017.10:g.79998763_79998769del, NC_000017.10:g.79998764_79998769del, NC_000017.10:g.79998765_79998769del, NC_000017.10:g.79998766_79998769del, NC_000017.10:g.79998767_79998769del, NC_000017.10:g.79998768_79998769del, NC_000017.10:g.79998769del, NC_000017.10:g.79998769dup, NC_000017.10:g.79998768_79998769dup, NC_000017.10:g.79998767_79998769dup, NC_000017.10:g.79998766_79998769dup, NC_000017.10:g.79998765_79998769dup, NC_000017.10:g.79998764_79998769dup, NC_000017.10:g.79998763_79998769dup, NC_000017.10:g.79998762_79998769dup, NC_000017.10:g.79998757_79998769dup, NG_027681.1:g.1815_1826del, NG_027681.1:g.1816_1826del, NG_027681.1:g.1817_1826del, NG_027681.1:g.1819_1826del, NG_027681.1:g.1820_1826del, NG_027681.1:g.1821_1826del, NG_027681.1:g.1822_1826del, NG_027681.1:g.1823_1826del, NG_027681.1:g.1824_1826del, NG_027681.1:g.1825_1826del, NG_027681.1:g.1826del, NG_027681.1:g.1826dup, NG_027681.1:g.1825_1826dup, NG_027681.1:g.1824_1826dup, NG_027681.1:g.1823_1826dup, NG_027681.1:g.1822_1826dup, NG_027681.1:g.1821_1826dup, NG_027681.1:g.1820_1826dup, NG_027681.1:g.1819_1826dup, NG_027681.1:g.1814_1826dup

Select item 14911800874.

rs1491180087 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:82038607 (GRCh38)
17:79996483 (GRCh37)
Canonical SPDI:: NC_000017.11:82038605:ACA:A
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.82038607_82038608del, NC_000017.10:g.79996483_79996484del, NG_027681.1:g.4091_4092del

Select item 14908520155.

rs1490852015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82035857 (GRCh38)
17:79993733 (GRCh37)
Canonical SPDI:: NC_000017.11:82035856:G:A
Gene:: DCXR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82035857G>A, NC_000017.10:g.79993733G>A, NG_027681.1:g.6841C>T

Select item 14908246826.

rs1490824682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82040172 (GRCh38)
17:79998048 (GRCh37)
Canonical SPDI:: NC_000017.11:82040171:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82040172C>T, NC_000017.10:g.79998048C>T, NG_027681.1:g.2526G>A

Select item 14905826767.

rs1490582676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82038009 (GRCh38)
17:79995885 (GRCh37)
Canonical SPDI:: NC_000017.11:82038008:G:A,NC_000017.11:82038008:G:C
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.82038009G>A, NC_000017.11:g.82038009G>C, NC_000017.10:g.79995885G>A, NC_000017.10:g.79995885G>C, NG_027681.1:g.4689C>T, NG_027681.1:g.4689C>G, NR_159947.1:n.92G>A, NR_159947.1:n.92G>C, NR_159948.1:n.92G>A, NR_159948.1:n.92G>C

Select item 14905317728.

rs1490531772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82038938 (GRCh38)
17:79996814 (GRCh37)
Canonical SPDI:: NC_000017.11:82038937:G:A
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82038938G>A, NC_000017.10:g.79996814G>A, NG_027681.1:g.3760C>T

Select item 14904550599.

rs1490455059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:82034129 (GRCh38)
17:79992005 (GRCh37)
Canonical SPDI:: NC_000017.11:82034128:G:A,NC_000017.11:82034128:G:T
Gene:: RAC3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.82034129G>A, NC_000017.11:g.82034129G>T, NC_000017.10:g.79992005G>A, NC_000017.10:g.79992005G>T, NG_027681.1:g.8569C>T, NG_027681.1:g.8569C>A, NM_005052.3:c.*300G>A, NM_005052.3:c.*300G>T, NM_005052.2:c.*300G>A, NM_005052.2:c.*300G>T, NM_001316307.2:c.*370G>A, NM_001316307.2:c.*370G>T, NM_001316307.1:c.*370G>A, NM_001316307.1:c.*370G>T

Select item 149022596910.

rs1490225969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82036499 (GRCh38)
17:79994375 (GRCh37)
Canonical SPDI:: NC_000017.11:82036498:A:G
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000096/2 (ALFA)
G=0.000008/1 (ExAC)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82036499A>G, NC_000017.10:g.79994375A>G, NG_027681.1:g.6199T>C

Select item 148950540011.

rs1489505400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:82042361 (GRCh38)
17:80000237 (GRCh37)
Canonical SPDI:: NC_000017.11:82042360:T:A,NC_000017.11:82042360:T:G
Validated:: by frequency,by cluster
MAF:: G=0.00018/3 (TOMMO)
A=0.02265/66 (KOREAN)
HGVS:: NC_000017.11:g.82042361T>A, NC_000017.11:g.82042361T>G, NC_000017.10:g.80000237T>A, NC_000017.10:g.80000237T>G, NG_027681.1:g.337A>T, NG_027681.1:g.337A>C

Select item 148940829112.

rs1489408291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82037409 (GRCh38)
17:79995285 (GRCh37)
Canonical SPDI:: NC_000017.11:82037408:T:C
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.82037409T>C, NC_000017.10:g.79995285T>C, NG_027681.1:g.5289A>G

Select item 148873535513.

rs1488735355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82039316 (GRCh38)
17:79997192 (GRCh37)
Canonical SPDI:: NC_000017.11:82039315:G:A,NC_000017.11:82039315:G:C
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00143/17 (ALFA)
HGVS:: NC_000017.11:g.82039316G>A, NC_000017.11:g.82039316G>C, NC_000017.10:g.79997192G>A, NC_000017.10:g.79997192G>C, NG_027681.1:g.3382C>T, NG_027681.1:g.3382C>G, NR_159947.1:n.632G>A, NR_159947.1:n.632G>C, NR_159948.1:n.487G>A, NR_159948.1:n.487G>C

Select item 148861388514.

rs1488613885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82038662 (GRCh38)
17:79996538 (GRCh37)
Canonical SPDI:: NC_000017.11:82038661:T:C
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82038662T>C, NC_000017.10:g.79996538T>C, NG_027681.1:g.4036A>G

Select item 148853533115.

rs1488535331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:82037489 (GRCh38)
17:79995365 (GRCh37)
Canonical SPDI:: NC_000017.11:82037488:C:A
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.82037489C>A, NC_000017.10:g.79995365C>A, NG_027681.1:g.5209G>T, NM_016286.4:c.111G>T, NM_016286.3:c.111G>T, NM_001195218.1:c.105G>T

Select item 148843293616.

rs1488432936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:82040062 (GRCh38)
17:79997938 (GRCh37)
Canonical SPDI:: NC_000017.11:82040061:C:G,NC_000017.11:82040061:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82040062C>G, NC_000017.11:g.82040062C>T, NC_000017.10:g.79997938C>G, NC_000017.10:g.79997938C>T, NG_027681.1:g.2636G>C, NG_027681.1:g.2636G>A

Select item 148801107317.

rs1488011073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82041982 (GRCh38)
17:79999858 (GRCh37)
Canonical SPDI:: NC_000017.11:82041981:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01214/144 (ALFA)
G=0.000023/3 (GnomAD)
G=0.000106/2 (TOMMO)
A=0.321429/9 (SGDP_PRJ)
HGVS:: NC_000017.11:g.82041982A>G, NC_000017.10:g.79999858A>G, NG_027681.1:g.716T>C

Select item 148794732018.

rs1487947320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82034375 (GRCh38)
17:79992251 (GRCh37)
Canonical SPDI:: NC_000017.11:82034374:G:A
Gene:: RAC3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82034375G>A, NC_000017.10:g.79992251G>A, NG_027681.1:g.8323C>T

Select item 148766662219.

rs1487666622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82037687 (GRCh38)
17:79995563 (GRCh37)
Canonical SPDI:: NC_000017.11:82037686:G:A,NC_000017.11:82037686:G:C
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.82037687G>A, NC_000017.11:g.82037687G>C, NC_000017.10:g.79995563G>A, NC_000017.10:g.79995563G>C, NG_027681.1:g.5011C>T, NG_027681.1:g.5011C>G, NM_016286.4:c.-5C>T, NM_016286.4:c.-5C>G, NM_016286.3:c.-5C>T, NM_016286.3:c.-5C>G, NM_001195218.1:c.-5C>T, NM_001195218.1:c.-5C>G

Select item 148744434320.

rs1487444343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82036665 (GRCh38)
17:79994541 (GRCh37)
Canonical SPDI:: NC_000017.11:82036664:G:A
Gene:: DCXR (Varview), DCXR-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.82036665G>A, NC_000017.10:g.79994541G>A, NG_027681.1:g.6033C>T

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