SNP Links for Gene (Select 105373378) - SNP

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Select item 14903453801.

rs1490345380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153358728 (GRCh38)
X:152624186 (GRCh37)
Canonical SPDI:: NC_000023.11:153358727:G:A
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000196/52 (TOPMED)
HGVS:: NC_000023.11:g.153358728G>A, NC_000023.10:g.152624186G>A, NW_003871103.3:g.792711G>A

Select item 14897838862.

rs1489783886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153356594 (GRCh38)
X:152622052 (GRCh37)
Canonical SPDI:: NC_000023.11:153356593:G:C
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.153356594G>C, NC_000023.10:g.152622052G>C, NW_003871103.3:g.790577G>C

Select item 14889319303.

rs1488931930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153356576 (GRCh38)
X:152622034 (GRCh37)
Canonical SPDI:: NC_000023.11:153356575:T:C
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153356576T>C, NC_000023.10:g.152622034T>C, NW_003871103.3:g.790559T>C

Select item 14888401274.

rs1488840127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153355054 (GRCh38)
X:152620512 (GRCh37)
Canonical SPDI:: NC_000023.11:153355053:G:A
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153355054G>A, NC_000023.10:g.152620512G>A, NW_003871103.3:g.789037G>A

Select item 14877826905.

rs1487782690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153350570 (GRCh38)
X:152616028 (GRCh37)
Canonical SPDI:: NC_000023.11:153350569:G:A
Gene:: ZNF275 (Varview), LOC105373378 (Varview), LOC124905279 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153350570G>A, NC_000023.10:g.152616028G>A, NG_021432.2:g.21416G>A, NM_001080485.4:c.*2797G>A, NM_001080485.3:c.*2797G>A, NM_001367757.1:c.*2595G>A, NW_003871103.3:g.784553G>A, NM_020636.2:c.*2595G>A

Select item 14876219516.

rs1487621951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:153360112 (GRCh38)
X:152625570 (GRCh37)
Canonical SPDI:: NC_000023.11:153360111:T:G
Gene:: LOC105373378 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.153360112T>G, NC_000023.10:g.152625570T>G, NW_003871103.3:g.794095T>G

Select item 14874257727.

rs1487425772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153359513 (GRCh38)
X:152624971 (GRCh37)
Canonical SPDI:: NC_000023.11:153359512:T:C
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000048/5 (GnomAD)
C=0.000053/14 (TOPMED)
C=0.000208/1 (1000Genomes)
C=0.00036/5 (TOMMO)
C=0.004801/14 (KOREAN)
HGVS:: NC_000023.11:g.153359513T>C, NC_000023.10:g.152624971T>C, NW_003871103.3:g.793496T>C

Select item 14864575538.

rs1486457553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153353250 (GRCh38)
X:152618708 (GRCh37)
Canonical SPDI:: NC_000023.11:153353249:G:A
Gene:: ZNF275 (Varview), LOC105373378 (Varview)
Functional Consequence:: intron_variant,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.153353250G>A, NC_000023.10:g.152618708G>A, NG_021432.2:g.24096G>A, NW_003871103.3:g.787233G>A

Select item 14857432659.

rs1485743265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:153353550 (GRCh38)
X:152619008 (GRCh37)
Canonical SPDI:: NC_000023.11:153353549:A:G,NC_000023.11:153353549:A:T
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.153353550A>G, NC_000023.11:g.153353550A>T, NC_000023.10:g.152619008A>G, NC_000023.10:g.152619008A>T, NG_021432.2:g.24396A>G, NG_021432.2:g.24396A>T, NW_003871103.3:g.787533A>G, NW_003871103.3:g.787533A>T

Select item 148570507010.

rs1485705070 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:153357864 (GRCh38)
X:152623322 (GRCh37)
Canonical SPDI:: NC_000023.11:153357861:AGAG:AG
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.153357862AG[1], NC_000023.10:g.152623320AG[1], NW_003871103.3:g.791845AG[1]

Select item 148440162211.

rs1484401622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:153350421 (GRCh38)
X:152615879 (GRCh37)
Canonical SPDI:: NC_000023.11:153350420:T:C,NC_000023.11:153350420:T:G
Gene:: ZNF275 (Varview), LOC105373378 (Varview), LOC124905279 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153350421T>C, NC_000023.11:g.153350421T>G, NC_000023.10:g.152615879T>C, NC_000023.10:g.152615879T>G, NG_021432.2:g.21267T>C, NG_021432.2:g.21267T>G, NM_001080485.4:c.*2648T>C, NM_001080485.4:c.*2648T>G, NM_001080485.3:c.*2648T>C, NM_001080485.3:c.*2648T>G, NM_001367757.1:c.*2446T>C, NM_001367757.1:c.*2446T>G, NW_003871103.3:g.784404T>C, NW_003871103.3:g.784404T>G, NM_020636.2:c.*2446T>C, NM_020636.2:c.*2446T>G

Select item 148353717712.

rs1483537177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153355342 (GRCh38)
X:152620800 (GRCh37)
Canonical SPDI:: NC_000023.11:153355341:G:C
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000029/3 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.153355342G>C, NC_000023.10:g.152620800G>C, NW_003871103.3:g.789325G>C

Select item 148350753313.

rs1483507533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153356829 (GRCh38)
X:152622287 (GRCh37)
Canonical SPDI:: NC_000023.11:153356828:C:T
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.153356829C>T, NC_000023.10:g.152622287C>T, NW_003871103.3:g.790812C>T

Select item 148318455614.

rs1483184556 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:153354529 (GRCh38)
X:152619987 (GRCh37)
Canonical SPDI:: NC_000023.11:153354524:CTCTCT:CTCT
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/3 (GnomAD)
-=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.153354525CT[2], NC_000023.10:g.152619983CT[2], NG_021432.2:g.25371CT[2], NW_003871103.3:g.788508CT[2]

Select item 148315595515.

rs1483155955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153356057 (GRCh38)
X:152621515 (GRCh37)
Canonical SPDI:: NC_000023.11:153356056:G:A
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000091/24 (TOPMED)
A=0.000134/14 (GnomAD)
HGVS:: NC_000023.11:g.153356057G>A, NC_000023.10:g.152621515G>A, NW_003871103.3:g.790040G>A

Select item 148296585816.

rs1482965858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:153351168 (GRCh38)
X:152616626 (GRCh37)
Canonical SPDI:: NC_000023.11:153351167:T:G
Gene:: ZNF275 (Varview), LOC105373378 (Varview), LOC124905279 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.153351168T>G, NC_000023.10:g.152616626T>G, NG_021432.2:g.22014T>G, NM_001080485.4:c.*3395T>G, NM_001080485.3:c.*3395T>G, NM_001367757.1:c.*3193T>G, NW_003871103.3:g.785151T>G, NM_020636.2:c.*3193T>G

Select item 148250552017.

rs1482505520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153353370 (GRCh38)
X:152618828 (GRCh37)
Canonical SPDI:: NC_000023.11:153353369:G:A
Gene:: ZNF275 (Varview), LOC105373378 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153353370G>A, NC_000023.10:g.152618828G>A, NG_021432.2:g.24216G>A, NW_003871103.3:g.787353G>A

Select item 148220391918.

rs1482203919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153353784 (GRCh38)
X:152619242 (GRCh37)
Canonical SPDI:: NC_000023.11:153353783:A:G
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.001712/5 (KOREAN)
G=0.0018/23 (TOMMO)
HGVS:: NC_000023.11:g.153353784A>G, NC_000023.10:g.152619242A>G, NG_021432.2:g.24630A>G, NW_003871103.3:g.787767A>G

Select item 148174481219.

rs1481744812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:153355201 (GRCh38)
X:152620659 (GRCh37)
Canonical SPDI:: NC_000023.11:153355200:A:T
Gene:: LOC105373378 (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)
HGVS:: NC_000023.11:g.153355201A>T, NC_000023.10:g.152620659A>T, NW_003871103.3:g.789184A>T

Select item 148165342220.

rs1481653422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:153353665 (GRCh38)
X:152619123 (GRCh37)
Canonical SPDI:: NC_000023.11:153353664:C:A,NC_000023.11:153353664:C:T
Gene:: LOC105373378 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.153353665C>A, NC_000023.11:g.153353665C>T, NC_000023.10:g.152619123C>A, NC_000023.10:g.152619123C>T, NG_021432.2:g.24511C>A, NG_021432.2:g.24511C>T, NW_003871103.3:g.787648C>A, NW_003871103.3:g.787648C>T

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