SNP Links for Gene (Select 10214) - SNP

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Select item 14910485971.

rs1491048597 has merged into rs1328196739 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: X:48346608 (GRCh38)
X:48206043 (GRCh37)
Canonical SPDI:: NC_000023.11:48346587:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000023.11:48346587:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:48346587:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:48346587:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: SSX3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48346588TG[10], NC_000023.11:g.48346588TG[11], NC_000023.11:g.48346588TG[13], NC_000023.11:g.48346588TG[14], NW_004070880.2:g.586017TG[10], NW_004070880.2:g.586017TG[11], NW_004070880.2:g.586017TG[13], NW_004070880.2:g.586017TG[14], NG_012561.1:g.15097CA[10], NG_012561.1:g.15097CA[11], NG_012561.1:g.15097CA[13], NG_012561.1:g.15097CA[14], NM_021014.4:c.*429CA[10], NM_021014.4:c.*429CA[11], NM_021014.4:c.*429CA[13], NM_021014.4:c.*429CA[14], NM_021014.3:c.*429CA[10], NM_021014.3:c.*429CA[11], NM_021014.3:c.*429CA[13], NM_021014.3:c.*429CA[14], NR_176964.1:n.1978CA[10], NR_176964.1:n.1978CA[11], NR_176964.1:n.1978CA[13], NR_176964.1:n.1978CA[14], NC_000023.10:g.48206023TG[10], NC_000023.10:g.48206023TG[11], NC_000023.10:g.48206023TG[13], NC_000023.10:g.48206023TG[14]

Select item 14909728322.

rs1490972832 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: X:48353792 (GRCh38)
X:48213227 (GRCh37)
Canonical SPDI:: NC_000023.11:48353787:TTATTAT:TTAT
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.48353789TAT[1], NW_004070880.2:g.593218TAT[1], NG_012561.1:g.7915TAA[1], NC_000023.10:g.48213224TAT[1]

Select item 14909631883.

rs1490963188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48354600 (GRCh38)
X:48214035 (GRCh37)
Canonical SPDI:: NC_000023.11:48354599:C:T
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.48354600C>T, NW_004070880.2:g.594029C>T, NG_012561.1:g.7108G>A, NC_000023.10:g.48214035C>T

Select item 14905910904.

rs1490591090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48347217 (GRCh38)
X:48206652 (GRCh37)
Canonical SPDI:: NC_000023.11:48347216:G:A
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.48347217G>A, NW_004070880.2:g.586646G>A, NG_012561.1:g.14491C>T, NC_000023.10:g.48206652G>A

Select item 14905652905.

rs1490565290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48346114 (GRCh38)
X:48205549 (GRCh37)
Canonical SPDI:: NC_000023.11:48346113:G:A
Gene:: SSX3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48346114G>A, NW_004070880.2:g.585543G>A, NG_012561.1:g.15594C>T, NC_000023.10:g.48205549G>A

Select item 14904810226.

rs1490481022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:48354274 (GRCh38)
X:48213709 (GRCh37)
Canonical SPDI:: NC_000023.11:48354273:A:G,NC_000023.11:48354273:A:T
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.48354274A>G, NC_000023.11:g.48354274A>T, NW_004070880.2:g.593703A>G, NW_004070880.2:g.593703A>T, NG_012561.1:g.7434T>C, NG_012561.1:g.7434T>A, NC_000023.10:g.48213709A>G, NC_000023.10:g.48213709A>T

Select item 14901456937.

rs1490145693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:48353295 (GRCh38)
X:48212730 (GRCh37)
Canonical SPDI:: NC_000023.11:48353294:A:T
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000181/48 (TOPMED)
T=0.000184/19 (GnomAD)
T=0.001575/20 (TOMMO)
HGVS:: NC_000023.11:g.48353295A>T, NW_004070880.2:g.592724A>T, NG_012561.1:g.8413T>A, NC_000023.10:g.48212730A>T

Select item 14901205858.

rs1490120585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48354303 (GRCh38)
X:48213738 (GRCh37)
Canonical SPDI:: NC_000023.11:48354302:A:G
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.48354303A>G, NW_004070880.2:g.593732A>G, NG_012561.1:g.7405T>C, NC_000023.10:g.48213738A>G

Select item 14897527459.

rs1489752745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48346701 (GRCh38)
X:48206136 (GRCh37)
Canonical SPDI:: NC_000023.11:48346700:G:C
Gene:: SSX3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.48346701G>C, NW_004070880.2:g.586130G>C, NG_012561.1:g.15007C>G, NM_021014.4:c.*339C>G, NM_021014.3:c.*339C>G, NR_176964.1:n.1888C>G, NC_000023.10:g.48206136G>C

Select item 148953891110.

rs1489538911 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTA [Show Flanks]
Chromosome:: X:48352789 (GRCh38)
X:48212225 (GRCh37)
Canonical SPDI:: NC_000023.11:48352789::GTA
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTA=0./0 (ALFA)
GTA=0.000004/1 (TOPMED)
GTA=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48352789_48352790insGTA, NW_004070880.2:g.592218_592219insGTA, NG_012561.1:g.8918_8919insTAC, NC_000023.10:g.48212224_48212225insGTA

Select item 148948736911.

rs1489487369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48351675 (GRCh38)
X:48211110 (GRCh37)
Canonical SPDI:: NC_000023.11:48351674:T:C
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00018/2 (TOMMO)
HGVS:: NC_000023.11:g.48351675T>C, NW_004070880.2:g.591104T>C, NG_012561.1:g.10033A>G, NC_000023.10:g.48211110T>C

Select item 148943108312.

rs1489431083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48348252 (GRCh38)
X:48207687 (GRCh37)
Canonical SPDI:: NC_000023.11:48348251:T:C
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.48348252T>C, NW_004070880.2:g.587681T>C, NG_012561.1:g.13456A>G, NR_176964.1:n.801A>G, NC_000023.10:g.48207687T>C

Select item 148927733713.

rs1489277337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48349343 (GRCh38)
X:48208778 (GRCh37)
Canonical SPDI:: NC_000023.11:48349342:C:T
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48349343C>T, NW_004070880.2:g.588772C>T, NG_012561.1:g.12365G>A, NC_000023.10:g.48208778C>T

Select item 148927712414.

rs1489277124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:48356424 (GRCh38)
X:48215859 (GRCh37)
Canonical SPDI:: NC_000023.11:48356423:A:C
Gene:: SSX3 (Varview)
Functional Consequence:: intron_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.48356424A>C, NW_004070880.2:g.595853A>C, NG_012561.1:g.5284T>G, NC_000023.10:g.48215859A>C

Select item 148924579815.

rs1489245798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:48355460 (GRCh38)
X:48214895 (GRCh37)
Canonical SPDI:: NC_000023.11:48355459:A:C
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48355460A>C, NW_004070880.2:g.594889A>C, NG_012561.1:g.6248T>G, NC_000023.10:g.48214895A>C

Select item 148918259516.

rs1489182595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48355793 (GRCh38)
X:48215228 (GRCh37)
Canonical SPDI:: NC_000023.11:48355792:G:C
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.000596/62 (GnomAD)
HGVS:: NC_000023.11:g.48355793G>C, NW_004070880.2:g.595222G>C, NG_012561.1:g.5915C>G, NC_000023.10:g.48215228G>C

Select item 148845080017.

rs1488450800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48348711 (GRCh38)
X:48208146 (GRCh37)
Canonical SPDI:: NC_000023.11:48348710:T:C
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000019/2 (GnomAD)
C=0.000684/2 (KOREAN)
HGVS:: NC_000023.11:g.48348711T>C, NW_004070880.2:g.588140T>C, NG_012561.1:g.12997A>G, NC_000023.10:g.48208146T>C

Select item 148829876518.

rs1488298765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48349755 (GRCh38)
X:48209190 (GRCh37)
Canonical SPDI:: NC_000023.11:48349754:G:A
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.48349755G>A, NW_004070880.2:g.589184G>A, NG_012561.1:g.11953C>T, NC_000023.10:g.48209190G>A

Select item 148821151719.

rs1488211517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48348472 (GRCh38)
X:48207907 (GRCh37)
Canonical SPDI:: NC_000023.11:48348471:G:T
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.48348472G>T, NW_004070880.2:g.587901G>T, NG_012561.1:g.13236C>A, NC_000023.10:g.48207907G>T

Select item 148816025220.

rs1488160252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48347338 (GRCh38)
X:48206773 (GRCh37)
Canonical SPDI:: NC_000023.11:48347337:G:A
Gene:: SSX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.48347338G>A, NW_004070880.2:g.586767G>A, NG_012561.1:g.14370C>T, NC_000023.10:g.48206773G>A

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