SNP Links for Gene (Select 7503) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915351391.

rs1491535139 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:73820805 (GRCh38)
X:73040640 (GRCh37)
Canonical SPDI:: NC_000023.11:73820801:AGAGA:AGA
Gene:: XIST (Varview), TSIX (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000006/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.73820803GA[1], NC_000023.10:g.73040638GA[1], NG_016172.1:g.36949CT[1], NR_001564.2:n.19126CT[1], NR_003255.2:n.28599GA[1]

Select item 14914158182.

rs1491415818 has merged into rs748433893 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: X:73847416 (GRCh38)
X:73067251 (GRCh37)
Canonical SPDI:: NC_000023.11:73847404:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:73847404:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:73847404:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:73847404:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:73847404:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00774/212 (ALFA)
T=0.00022/3 (TOMMO)
HGVS:: NC_000023.11:g.73847416_73847418del, NC_000023.11:g.73847417_73847418del, NC_000023.11:g.73847418del, NC_000023.11:g.73847418dup, NC_000023.11:g.73847417_73847418dup, NC_000023.10:g.73067251_73067253del, NC_000023.10:g.73067252_73067253del, NC_000023.10:g.73067253del, NC_000023.10:g.73067253dup, NC_000023.10:g.73067252_73067253dup, NG_016172.1:g.10347_10349del, NG_016172.1:g.10348_10349del, NG_016172.1:g.10349del, NG_016172.1:g.10349dup, NG_016172.1:g.10348_10349dup, NR_001564.2:n.5347_5349del, NR_001564.2:n.5348_5349del, NR_001564.2:n.5349del, NR_001564.2:n.5349dup, NR_001564.2:n.5348_5349dup

Select item 14913720013.

rs1491372001 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:73847973 (GRCh38)
X:73067808 (GRCh37)
Canonical SPDI:: NC_000023.11:73847972:AT:
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
-=0.000012/1 (ExAC)
HGVS:: NC_000023.11:g.73847973_73847974del, NC_000023.10:g.73067808_73067809del, NG_016172.1:g.9780_9781del, NR_001564.2:n.4780_4781del

Select item 14913233244.

rs1491323324 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAAACA [Show Flanks]
Chromosome:: X:73848926 (GRCh38)
X:73068762 (GRCh37)
Canonical SPDI:: NC_000023.11:73848926::TAAACA
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000023.11:g.73848926_73848927insTAAACA, NC_000023.10:g.73068761_73068762insTAAACA, NG_016172.1:g.8827_8828insTGTTTA, NR_001564.2:n.3827_3828insTGTTTA

Select item 14911098655.

rs1491109865 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: X:73820802 (GRCh38)
X:73040638 (GRCh37)
Canonical SPDI:: NC_000023.11:73820802::T
Gene:: XIST (Varview), TSIX (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.73820802_73820803insT, NC_000023.10:g.73040637_73040638insT, NG_016172.1:g.36951_36952insA, NR_001564.2:n.19128_19129insA, NR_003255.2:n.28598_28599insT

Select item 14909542006.

rs1490954200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:73831017 (GRCh38)
X:73050852 (GRCh37)
Canonical SPDI:: NC_000023.11:73831016:A:C
Gene:: XIST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.73831017A>C, NC_000023.10:g.73050852A>C, NG_016172.1:g.26737T>G

Select item 14909285687.

rs1490928568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:73848881 (GRCh38)
X:73068716 (GRCh37)
Canonical SPDI:: NC_000023.11:73848880:T:C
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.73848881T>C, NC_000023.10:g.73068716T>C, NG_016172.1:g.8873A>G, NR_001564.2:n.3873A>G

Select item 14909038218.

rs1490903821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:73842690 (GRCh38)
X:73062525 (GRCh37)
Canonical SPDI:: NC_000023.11:73842689:A:C
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000012/2 (GnomAD_exomes)
C=0.000026/2 (ExAC)
HGVS:: NC_000023.11:g.73842690A>C, NC_000023.10:g.73062525A>C, NG_016172.1:g.15064T>G, NR_001564.2:n.10064T>G

Select item 14908771179.

rs1490877117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73849827 (GRCh38)
X:73069662 (GRCh37)
Canonical SPDI:: NC_000023.11:73849826:G:A
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.73849827G>A, NC_000023.10:g.73069662G>A, NG_016172.1:g.7927C>T, NR_001564.2:n.2927C>T

Select item 149087510210.

rs1490875102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:73837836 (GRCh38)
X:73057671 (GRCh37)
Canonical SPDI:: NC_000023.11:73837835:C:T
Gene:: XIST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000048/5 (GnomAD)
T=0.00006/16 (TOPMED)
HGVS:: NC_000023.11:g.73837836C>T, NC_000023.10:g.73057671C>T, NG_016172.1:g.19918G>A

Select item 149083729111.

rs1490837291 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:73847721 (GRCh38)
X:73067556 (GRCh37)
Canonical SPDI:: NC_000023.11:73847720:AA:
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000019/2 (GnomAD)
-=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.73847721_73847722del, NC_000023.10:g.73067556_73067557del, NG_016172.1:g.10032_10033del, NR_001564.2:n.5032_5033del

Select item 149061280212.

rs1490612802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:73849200 (GRCh38)
X:73069035 (GRCh37)
Canonical SPDI:: NC_000023.11:73849199:A:C
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.73849200A>C, NC_000023.10:g.73069035A>C, NG_016172.1:g.8554T>G, NR_001564.2:n.3554T>G

Select item 149043559313.

rs1490435593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:73827728 (GRCh38)
X:73047563 (GRCh37)
Canonical SPDI:: NC_000023.11:73827727:T:C
Gene:: XIST (Varview), TSIX (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.73827728T>C, NC_000023.10:g.73047563T>C, NG_016172.1:g.30026A>G, NR_001564.2:n.12203A>G, NR_003255.2:n.35524T>C

Select item 149033244614.

rs1490332446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:73832117 (GRCh38)
X:73051952 (GRCh37)
Canonical SPDI:: NC_000023.11:73832116:C:T
Gene:: XIST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0004/2 (ALFA)
HGVS:: NC_000023.11:g.73832117C>T, NC_000023.10:g.73051952C>T, NG_016172.1:g.25637G>A

Select item 149030757515.

rs1490307575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:73828581 (GRCh38)
X:73048416 (GRCh37)
Canonical SPDI:: NC_000023.11:73828580:G:C
Gene:: XIST (Varview), TSIX (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.73828581G>C, NC_000023.10:g.73048416G>C, NG_016172.1:g.29173C>G, NR_003255.2:n.36377G>C

Select item 149027488916.

rs1490274889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCT>- [Show Flanks]
Chromosome:: X:73827024 (GRCh38)
X:73046859 (GRCh37)
Canonical SPDI:: NC_000023.11:73827016:TCTATCTATCT:TCTATCT
Gene:: XIST (Varview), TSIX (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTATCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.73827020ATCT[1], NC_000023.10:g.73046855ATCT[1], NG_016172.1:g.30730TAGA[1], NR_001564.2:n.12907TAGA[1], NR_003255.2:n.34816ATCT[1]

Select item 149019561517.

rs1490195615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73842287 (GRCh38)
X:73062122 (GRCh37)
Canonical SPDI:: NC_000023.11:73842286:G:A
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.73842287G>A, NC_000023.10:g.73062122G>A, NG_016172.1:g.15467C>T, NR_001564.2:n.10467C>T

Select item 149014343918.

rs1490143439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:73833361 (GRCh38)
X:73053196 (GRCh37)
Canonical SPDI:: NC_000023.11:73833360:A:G
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.73833361A>G, NC_000023.10:g.73053196A>G, NG_016172.1:g.24393T>C, NR_001564.2:n.11450T>C

Select item 148987299619.

rs1489872996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:73849920 (GRCh38)
X:73069755 (GRCh37)
Canonical SPDI:: NC_000023.11:73849919:G:A
Gene:: XIST (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.73849920G>A, NC_000023.10:g.73069755G>A, NG_016172.1:g.7834C>T, NR_001564.2:n.2834C>T

Select item 148980710420.

rs1489807104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:73839946 (GRCh38)
X:73059781 (GRCh37)
Canonical SPDI:: NC_000023.11:73839945:A:C,NC_000023.11:73839945:A:G
Gene:: XIST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.73839946A>C, NC_000023.11:g.73839946A>G, NC_000023.10:g.73059781A>C, NC_000023.10:g.73059781A>G, NG_016172.1:g.17808T>G, NG_016172.1:g.17808T>C

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity