SNP Links for Nucleotide (Select 1198817828) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

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Select item 14915818751.

rs1491581875 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:130413728 (GRCh38)
X:129547702 (GRCh37)
Canonical SPDI:: NC_000023.11:130413727:TA:
Gene:: RBMX2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00013/11 (GnomAD)
-=0.00037/8 (TOMMO)
HGVS:: NC_000023.11:g.130413728_130413729del, NC_000023.10:g.129547702_129547703del, NG_054894.1:g.16780_16781del

Select item 14911038082.

rs1491103808 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: X:130413698 (GRCh38)
X:129547672 (GRCh37)
Canonical SPDI:: NC_000023.11:130413697:GT:
Gene:: RBMX2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.130413698_130413699del, NC_000023.10:g.129547672_129547673del, NG_054894.1:g.16750_16751del

Select item 14910628743.

rs1491062874 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: X:130398634 (GRCh38)
X:129532608 (GRCh37)
Canonical SPDI:: NC_000023.11:130398632:ATA:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000123/2 (ALFA)
-=0.000059/6 (GnomAD)
HGVS:: NC_000023.11:g.130398634_130398635del, NC_000023.10:g.129532608_129532609del, NG_054894.1:g.1686_1687del

Select item 14909672524.

rs1490967252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130398770 (GRCh38)
X:129532744 (GRCh37)
Canonical SPDI:: NC_000023.11:130398769:T:C
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.130398770T>C, NC_000023.10:g.129532744T>C, NG_054894.1:g.1822T>C

Select item 14907355205.

rs1490735520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130409798 (GRCh38)
X:129543772 (GRCh37)
Canonical SPDI:: NC_000023.11:130409797:G:A
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.130409798G>A, NC_000023.10:g.129543772G>A, NG_054894.1:g.12850G>A

Select item 14907039926.

rs1490703992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:130411567 (GRCh38)
X:129545541 (GRCh37)
Canonical SPDI:: NC_000023.11:130411566:A:T
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000023.11:g.130411567A>T, NC_000023.10:g.129545541A>T, NG_054894.1:g.14619A>T

Select item 14898915357.

rs1489891535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:130405592 (GRCh38)
X:129539566 (GRCh37)
Canonical SPDI:: NC_000023.11:130405591:G:A,NC_000023.11:130405591:G:T
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
A=0.00144/18 (TOMMO)
HGVS:: NC_000023.11:g.130405592G>A, NC_000023.11:g.130405592G>T, NC_000023.10:g.129539566G>A, NC_000023.10:g.129539566G>T, NG_054894.1:g.8644G>A, NG_054894.1:g.8644G>T

Select item 14896579158.

rs1489657915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:130409862 (GRCh38)
X:129543836 (GRCh37)
Canonical SPDI:: NC_000023.11:130409861:C:A
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130409862C>A, NC_000023.10:g.129543836C>A, NG_054894.1:g.12914C>A

Select item 14896380239.

rs1489638023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130409008 (GRCh38)
X:129542982 (GRCh37)
Canonical SPDI:: NC_000023.11:130409007:T:C
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130409008T>C, NC_000023.10:g.129542982T>C, NG_054894.1:g.12060T>C

Select item 148953181510.

rs1489531815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:130414535 (GRCh38)
X:129548509 (GRCh37)
Canonical SPDI:: NC_000023.11:130414534:G:A,NC_000023.11:130414534:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.130414535G>A, NC_000023.11:g.130414535G>C, NC_000023.10:g.129548509G>A, NC_000023.10:g.129548509G>C, NG_054894.1:g.17587G>A, NG_054894.1:g.17587G>C

Select item 148921980911.

rs1489219809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130409232 (GRCh38)
X:129543206 (GRCh37)
Canonical SPDI:: NC_000023.11:130409231:T:C
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130409232T>C, NC_000023.10:g.129543206T>C, NG_054894.1:g.12284T>C

Select item 148910290812.

rs1489102908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130407726 (GRCh38)
X:129541700 (GRCh37)
Canonical SPDI:: NC_000023.11:130407725:T:C
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.130407726T>C, NC_000023.10:g.129541700T>C, NG_054894.1:g.10778T>C

Select item 148895933713.

rs1488959337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:130403607 (GRCh38)
X:129537581 (GRCh37)
Canonical SPDI:: NC_000023.11:130403606:A:G
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000048/5 (GnomAD)
G=0.000091/24 (TOPMED)
HGVS:: NC_000023.11:g.130403607A>G, NC_000023.10:g.129537581A>G, NG_054894.1:g.6659A>G

Select item 148867417914.

rs1488674179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:130401423 (GRCh38)
X:129535397 (GRCh37)
Canonical SPDI:: NC_000023.11:130401422:T:C,NC_000023.11:130401422:T:G
Gene:: RBMX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130401423T>C, NC_000023.11:g.130401423T>G, NC_000023.10:g.129535397T>C, NC_000023.10:g.129535397T>G, NG_054894.1:g.4475T>C, NG_054894.1:g.4475T>G

Select item 148844911815.

rs1488449118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130409421 (GRCh38)
X:129543395 (GRCh37)
Canonical SPDI:: NC_000023.11:130409420:T:C
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000223/2 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130409421T>C, NC_000023.10:g.129543395T>C, NG_054894.1:g.12473T>C

Select item 148840874416.

rs1488408744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:130412293 (GRCh38)
X:129546267 (GRCh37)
Canonical SPDI:: NC_000023.11:130412292:T:G
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.130412293T>G, NC_000023.10:g.129546267T>G, NG_054894.1:g.15345T>G

Select item 148834553317.

rs1488345533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130412815 (GRCh38)
X:129546789 (GRCh37)
Canonical SPDI:: NC_000023.11:130412814:G:A
Gene:: RBMX2 (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_000023.11:g.130412815G>A, NC_000023.10:g.129546789G>A, NG_054894.1:g.15867G>A, NM_016024.4:c.936G>A, NM_016024.3:c.936G>A, NM_016024.2:c.936G>A

Select item 148823476518.

rs1488234765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:130412144 (GRCh38)
X:129546118 (GRCh37)
Canonical SPDI:: NC_000023.11:130412143:T:C,NC_000023.11:130412143:T:G
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.130412144T>C, NC_000023.11:g.130412144T>G, NC_000023.10:g.129546118T>C, NC_000023.10:g.129546118T>G, NG_054894.1:g.15196T>C, NG_054894.1:g.15196T>G

Select item 148804165819.

rs1488041658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:130407406 (GRCh38)
X:129541380 (GRCh37)
Canonical SPDI:: NC_000023.11:130407405:A:G,NC_000023.11:130407405:A:T
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.130407406A>G, NC_000023.11:g.130407406A>T, NC_000023.10:g.129541380A>G, NC_000023.10:g.129541380A>T, NG_054894.1:g.10458A>G, NG_054894.1:g.10458A>T

Select item 148801975620.

rs1488019756 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:130408297 (GRCh38)
X:129542272 (GRCh37)
Canonical SPDI:: NC_000023.11:130408297:T:TT
Gene:: RBMX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130408298dup, NC_000023.10:g.129542272dup, NG_054894.1:g.11350dup

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