SNP Links for Gene (Select 494197) - SNP

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Select item 14908527151.

rs1490852715 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:52795778 (GRCh38)
X:52824819 (GRCh37)
Canonical SPDI:: NC_000023.11:52795778:TT:TTT
Gene:: SPANXN5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.52795780dup, NW_004070877.1:g.2508895dup, NC_000023.10:g.52824820dup

Select item 14890585232.

rs1489058523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:52797923 (GRCh38)
X:52826963 (GRCh37)
Canonical SPDI:: NC_000023.11:52797922:G:C
Gene:: SPANXN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.52797923G>C, NW_004070877.1:g.2511038G>C, NC_000023.10:g.52826963G>C

Select item 14850079163.

rs1485007916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52799045 (GRCh38)
X:52828084 (GRCh37)
Canonical SPDI:: NC_000023.11:52799044:G:A
Gene:: SPANXN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.52799045G>A, NW_004070877.1:g.2512160G>A, NC_000023.10:g.52828084G>A

Select item 14849781074.

rs1484978107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:52798112 (GRCh38)
X:52827152 (GRCh37)
Canonical SPDI:: NC_000023.11:52798111:T:C
Gene:: SPANXN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000029/3 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000023.11:g.52798112T>C, NW_004070877.1:g.2511227T>C, NC_000023.10:g.52827152T>C

Select item 14834032685.

rs1483403268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:52796865 (GRCh38)
X:52825905 (GRCh37)
Canonical SPDI:: NC_000023.11:52796864:C:T
Gene:: SPANXN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000068/7 (GnomAD)
HGVS:: NC_000023.11:g.52796865C>T, NW_004070877.1:g.2509980C>T, NC_000023.10:g.52825905C>T

Select item 14830275496.

rs1483027549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:52797755 (GRCh38)
X:52826795 (GRCh37)
Canonical SPDI:: NC_000023.11:52797754:G:C
Gene:: SPANXN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.52797755G>C, NW_004070877.1:g.2510870G>C, NC_000023.10:g.52826795G>C

Select item 14829641227.

rs1482964122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:52798308 (GRCh38)
X:52827348 (GRCh37)
Canonical SPDI:: NC_000023.11:52798307:G:C
Gene:: SPANXN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.52798308G>C, NW_004070877.1:g.2511423G>C, NC_000023.10:g.52827348G>C

Select item 14824243988.

rs1482424398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52796375 (GRCh38)
X:52825415 (GRCh37)
Canonical SPDI:: NC_000023.11:52796374:G:A
Gene:: SPANXN5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.52796375G>A, NW_004070877.1:g.2509490G>A, NC_000023.10:g.52825415G>A, NM_001009616.4:c.*113C>T, NM_001009616.3:c.*113C>T, NM_001009616.2:c.*113C>T

Select item 14820473589.

rs1482047358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:52797047 (GRCh38)
X:52826087 (GRCh37)
Canonical SPDI:: NC_000023.11:52797046:T:C
Gene:: SPANXN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.52797047T>C, NW_004070877.1:g.2510162T>C, NC_000023.10:g.52826087T>C

Select item 148149383310.

rs1481493833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:52795898 (GRCh38)
X:52824938 (GRCh37)
Canonical SPDI:: NC_000023.11:52795897:T:G
Gene:: SPANXN5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.52795898T>G, NW_004070877.1:g.2509013T>G, NC_000023.10:g.52824938T>G

Select item 148055282511.

rs1480552825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:52799270 (GRCh38)
X:52828309 (GRCh37)
Canonical SPDI:: NC_000023.11:52799269:G:C
Gene:: SPANXN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00006/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.52799270G>C, NW_004070877.1:g.2512385G>C, NC_000023.10:g.52828309G>C

Select item 147903133512.

rs1479031335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:52797136 (GRCh38)
X:52826176 (GRCh37)
Canonical SPDI:: NC_000023.11:52797135:C:T
Gene:: SPANXN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000356/5 (ALFA)
T=0.000193/20 (GnomAD)
T=0.0004/106 (TOPMED)
HGVS:: NC_000023.11:g.52797136C>T, NW_004070877.1:g.2510251C>T, NC_000023.10:g.52826176C>T

Select item 147398931513.

rs1473989315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:52797744 (GRCh38)
X:52826784 (GRCh37)
Canonical SPDI:: NC_000023.11:52797743:C:A,NC_000023.11:52797743:C:T
Gene:: SPANXN5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000057/15 (TOPMED)
A=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.52797744C>A, NC_000023.11:g.52797744C>T, NW_004070877.1:g.2510859C>A, NW_004070877.1:g.2510859C>T, NC_000023.10:g.52826784C>A, NC_000023.10:g.52826784C>T

Select item 147393865414.

rs1473938654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:52799230 (GRCh38)
X:52828269 (GRCh37)
Canonical SPDI:: NC_000023.11:52799229:T:G
Gene:: SPANXN5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.52799230T>G, NW_004070877.1:g.2512345T>G, NC_000023.10:g.52828269T>G

Select item 147353765415.

rs1473537654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: X:52799028 (GRCh38)
X:52828067 (GRCh37)
Canonical SPDI:: NC_000023.11:52799027:A:C,NC_000023.11:52799027:A:G,NC_000023.11:52799027:A:T
Gene:: SPANXN5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.52799028A>C, NC_000023.11:g.52799028A>G, NC_000023.11:g.52799028A>T, NW_004070877.1:g.2512143A>C, NW_004070877.1:g.2512143A>G, NW_004070877.1:g.2512143A>T, NC_000023.10:g.52828067A>C, NC_000023.10:g.52828067A>G, NC_000023.10:g.52828067A>T

Select item 147300993716.

rs1473009937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52796985 (GRCh38)
X:52826025 (GRCh37)
Canonical SPDI:: NC_000023.11:52796984:G:A
Gene:: SPANXN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.52796985G>A, NW_004070877.1:g.2510100G>A, NC_000023.10:g.52826025G>A

Select item 147295765617.

rs1472957656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:52798659 (GRCh38)
X:52827699 (GRCh37)
Canonical SPDI:: NC_000023.11:52798658:C:A
Gene:: SPANXN5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.52798659C>A, NW_004070877.1:g.2511774C>A, NC_000023.10:g.52827699C>A

Select item 147271169818.

rs1472711698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:52795730 (GRCh38)
X:52824770 (GRCh37)
Canonical SPDI:: NC_000023.11:52795729:A:T
Gene:: SPANXN5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.52795730A>T, NW_004070877.1:g.2508845A>T, NC_000023.10:g.52824770A>T

Select item 147162443119.

rs1471624431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:52796334 (GRCh38)
X:52825374 (GRCh37)
Canonical SPDI:: NC_000023.11:52796333:C:T
Gene:: SPANXN5 (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.52796334C>T, NW_004070877.1:g.2509449C>T, NC_000023.10:g.52825374C>T, NM_001009616.4:c.*154G>A, NM_001009616.3:c.*154G>A, NM_001009616.2:c.*154G>A

Select item 147108140820.

rs1471081408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52795961 (GRCh38)
X:52825001 (GRCh37)
Canonical SPDI:: NC_000023.11:52795960:G:A
Gene:: SPANXN5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000169/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.52795961G>A, NW_004070877.1:g.2509076G>A, NC_000023.10:g.52825001G>A

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