SNP Links for Gene (Select 389856) - SNP

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Select item 14908266231.

rs1490826623 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCCACCGAGAAGGTGGA [Show Flanks]
Chromosome:: X:49879613 (GRCh38)
X:49644217 (GRCh37)
Canonical SPDI:: NC_000023.11:49879613:GAAGGTGGACGCCACCGAGAAGGTGGA:GAAGGTGGACGCCACCGAGAAGGTGGACGCCACCGAGAAGGTGGA
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GAAGGTGGACGCCACCGAGAAGGTGGACGCCACCGAGAAGGTGGA=0./0 (ALFA)
GAAGGTGGACGCCACCGA=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.49879623_49879640dup, NW_004070880.2:g.2069052_2069069dup, NG_053124.1:g.4757_4774dup, NM_001145073.3:c.-685_-668dup, NC_000023.10:g.49644226_49644243dup

Select item 14907605792.

rs1490760579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:49878616 (GRCh38)
X:49643219 (GRCh37)
Canonical SPDI:: NC_000023.11:49878615:G:C
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49878616G>C, NW_004070880.2:g.2068045G>C, NG_053124.1:g.3750G>C, NC_000023.10:g.49643219G>C, NR_026742.1:n.398C>G, NM_001025449.1:c.111C>G

Select item 14903372513.

rs1490337251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49879997 (GRCh38)
X:49644600 (GRCh37)
Canonical SPDI:: NC_000023.11:49879996:G:A
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.49879997G>A, NW_004070880.2:g.2069426G>A, NG_053124.1:g.5131G>A, NM_001145073.3:c.-311G>A, NM_001145073.2:c.-311G>A, NM_001145073.1:c.-311G>A, NC_000023.10:g.49644600G>A

Select item 14900593554.

rs1490059355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:49882232 (GRCh38)
X:49646835 (GRCh37)
Canonical SPDI:: NC_000023.11:49882231:A:C
Gene:: USP27X (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49882232A>C, NW_004070880.2:g.2071661A>C, NG_053124.1:g.7366A>C, NM_001145073.3:c.*608A>C, NM_001145073.2:c.*608A>C, NM_001145073.1:c.*608A>C, NC_000023.10:g.49646835A>C

Select item 14893478155.

rs1489347815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49882656 (GRCh38)
X:49647260 (GRCh37)
Canonical SPDI:: NC_000023.11:49882655:C:T
Gene:: USP27X (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49882656C>T, NW_004070880.2:g.2072085C>T, NG_053124.1:g.7790C>T, NC_000023.10:g.49647260C>T

Select item 14884866126.

rs1488486612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49880035 (GRCh38)
X:49644638 (GRCh37)
Canonical SPDI:: NC_000023.11:49880034:T:C
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/4 (GnomAD)
C=0.000064/17 (TOPMED)
HGVS:: NC_000023.11:g.49880035T>C, NW_004070880.2:g.2069464T>C, NG_053124.1:g.5169T>C, NM_001145073.3:c.-273T>C, NM_001145073.2:c.-273T>C, NM_001145073.1:c.-273T>C, NC_000023.10:g.49644638T>C

Select item 14882721947.

rs1488272194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:49878119 (GRCh38)
X:49642722 (GRCh37)
Canonical SPDI:: NC_000023.11:49878118:C:A,NC_000023.11:49878118:C:T
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.49878119C>A, NC_000023.11:g.49878119C>T, NW_004070880.2:g.2067548C>A, NW_004070880.2:g.2067548C>T, NG_053124.1:g.3253C>A, NG_053124.1:g.3253C>T, NC_000023.10:g.49642722C>A, NC_000023.10:g.49642722C>T, NR_026742.1:n.895G>T, NR_026742.1:n.895G>A

Select item 14879067528.

rs1487906752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49882450 (GRCh38)
X:49647054 (GRCh37)
Canonical SPDI:: NC_000023.11:49882449:T:C
Gene:: USP27X (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.49882450T>C, NW_004070880.2:g.2071879T>C, NG_053124.1:g.7584T>C, NM_001145073.3:c.*826T>C, NM_001145073.2:c.*826T>C, NM_001145073.1:c.*827T>C, NC_000023.10:g.49647054T>C

Select item 14875810859.

rs1487581085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49882012 (GRCh38)
X:49646615 (GRCh37)
Canonical SPDI:: NC_000023.11:49882011:G:A
Gene:: USP27X (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000023.11:g.49882012G>A, NW_004070880.2:g.2071441G>A, NG_053124.1:g.7146G>A, NM_001145073.3:c.*388G>A, NM_001145073.2:c.*388G>A, NM_001145073.1:c.*388G>A, NC_000023.10:g.49646615G>A

Select item 148506475010.

rs1485064750 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCCCG [Show Flanks]
Chromosome:: X:49879895 (GRCh38)
X:49644499 (GRCh37)
Canonical SPDI:: NC_000023.11:49879895:CCGACCCCG:CCGACCCCGACCCCG
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGACCCCGACCCCG=0./0 (ALFA)
CCGACC=0.000156/16 (GnomAD)
HGVS:: NC_000023.11:g.49879899_49879904dup, NW_004070880.2:g.2069328_2069333dup, NG_053124.1:g.5033_5038dup, NM_001145073.3:c.-409_-404dup, NM_001145073.2:c.-409_-404dup, NM_001145073.1:c.-409_-404dup, NC_000023.10:g.49644502_49644507dup

Select item 148501390911.

rs1485013909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49879001 (GRCh38)
X:49643604 (GRCh37)
Canonical SPDI:: NC_000023.11:49879000:G:A
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.49879001G>A, NW_004070880.2:g.2068430G>A, NG_053124.1:g.4135G>A, NC_000023.10:g.49643604G>A

Select item 148440974512.

rs1484409745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49882004 (GRCh38)
X:49646607 (GRCh37)
Canonical SPDI:: NC_000023.11:49882003:C:T
Gene:: USP27X (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49882004C>T, NW_004070880.2:g.2071433C>T, NG_053124.1:g.7138C>T, NM_001145073.3:c.*380C>T, NM_001145073.2:c.*380C>T, NM_001145073.1:c.*380C>T, NC_000023.10:g.49646607C>T

Select item 148428376313.

rs1484283763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:49877962 (GRCh38)
X:49642565 (GRCh37)
Canonical SPDI:: NC_000023.11:49877961:A:C
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000183/19 (GnomAD)
C=0.000208/1 (1000Genomes)
C=0.00048/127 (TOPMED)
HGVS:: NC_000023.11:g.49877962A>C, NW_004070880.2:g.2067391A>C, NG_053124.1:g.3096A>C, NC_000023.10:g.49642565A>C, NR_026742.1:n.1052T>G

Select item 148125834314.

rs1481258343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49879669 (GRCh38)
X:49644272 (GRCh37)
Canonical SPDI:: NC_000023.11:49879668:A:G
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.49879669A>G, NW_004070880.2:g.2069098A>G, NG_053124.1:g.4803A>G, NM_001145073.3:c.-639A>G, NC_000023.10:g.49644272A>G

Select item 148097392415.

rs1480973924 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:49878348 (GRCh38)
X:49642952 (GRCh37)
Canonical SPDI:: NC_000023.11:49878348::G
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49878348_49878349insG, NW_004070880.2:g.2067777_2067778insG, NG_053124.1:g.3482_3483insG, NC_000023.10:g.49642951_49642952insG, NR_026742.1:n.665_666insC, NM_001025449.1:c.*27_*28insC

Select item 148094438116.

rs1480944381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:49879358 (GRCh38)
X:49643961 (GRCh37)
Canonical SPDI:: NC_000023.11:49879357:A:C
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.49879358A>C, NW_004070880.2:g.2068787A>C, NG_053124.1:g.4492A>C, NC_000023.10:g.49643961A>C

Select item 148022316917.

rs1480223169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49879241 (GRCh38)
X:49643844 (GRCh37)
Canonical SPDI:: NC_000023.11:49879240:T:C
Gene:: USP27X-DT (Varview), USP27X (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49879241T>C, NW_004070880.2:g.2068670T>C, NG_053124.1:g.4375T>C, NC_000023.10:g.49643844T>C, NR_026742.1:n.116A>G

Select item 147895096418.

rs1478950964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49881670 (GRCh38)
X:49646273 (GRCh37)
Canonical SPDI:: NC_000023.11:49881669:C:T
Gene:: USP27X (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.49881670C>T, NW_004070880.2:g.2071099C>T, NG_053124.1:g.6804C>T, NM_001145073.3:c.*46C>T, NM_001145073.2:c.*46C>T, NM_001145073.1:c.*46C>T, NC_000023.10:g.49646273C>T

Select item 147808970619.

rs1478089706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:49882812 (GRCh38)
X:49647416 (GRCh37)
Canonical SPDI:: NC_000023.11:49882811:T:A
Gene:: USP27X (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.49882812T>A, NW_004070880.2:g.2072241T>A, NG_053124.1:g.7946T>A, NC_000023.10:g.49647416T>A

Select item 147798806620.

rs1477988066 has merged into rs781835597 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAC>- [Show Flanks]
Chromosome:: X:49881660 (GRCh38)
X:49646263 (GRCh37)
Canonical SPDI:: NC_000023.11:49881656:GACGAC:GAC
Gene:: USP27X (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACGAC=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.000048/5 (GnomAD)
-=0.00005/4 (GnomAD_exomes)
-=0.000057/15 (TOPMED)
-=0.00017/1 (ExAC)
-=0.000346/1 (ALSPAC)
HGVS:: NC_000023.11:g.49881657GAC[1], NW_004070880.2:g.2071086GAC[1], NG_053124.1:g.6791GAC[1], NM_001145073.3:c.*33GAC[1], NM_001145073.2:c.*33GAC[1], NM_001145073.1:c.*33GAC[1], NC_000023.10:g.49646260GAC[1]

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