SNP Links for Gene (Select 23676) - SNP

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Select item 14915263891.

rs1491526389 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:21731564 (GRCh38)
X:21749682 (GRCh37)
Canonical SPDI:: NC_000023.11:21731562:TAT:T
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.21731564_21731565del, NC_000023.10:g.21749682_21749683del, NG_031916.1:g.31597_31598del

Select item 14915211072.

rs1491521107 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:21715262 (GRCh38)
X:21733380 (GRCh37)
Canonical SPDI:: NC_000023.11:21715259:CTCT:CT
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.00012/2 (ALFA)
-=0.00031/25 (GnomAD)
HGVS:: NC_000023.11:g.21715260CT[1], NC_000023.10:g.21733378CT[1], NG_031916.1:g.47898AG[1]

Select item 14914892323.

rs1491489232 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:21731563 (GRCh38)
X:21749682 (GRCh37)
Canonical SPDI:: NC_000023.11:21731563:A:AA
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00007/3 (GnomAD)
HGVS:: NC_000023.11:g.21731564dup, NC_000023.10:g.21749682dup, NG_031916.1:g.31597dup

Select item 14914653824.

rs1491465382 has merged into rs1555971890 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC [Show Flanks]
Chromosome:: X:21715306 (GRCh38)
X:21733424 (GRCh37)
Canonical SPDI:: NC_000023.11:21715303:GCGCGC:GC,NC_000023.11:21715303:GCGCGC:GCGC,NC_000023.11:21715303:GCGCGC:GCGCGCGC,NC_000023.11:21715303:GCGCGC:GCGCGCGCGC,NC_000023.11:21715303:GCGCGC:GCGCGCGCGCGC,NC_000023.11:21715303:GCGCGC:GCGCGCGCGCGCGC
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGCGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GC=0.017066/217 (TOMMO)
HGVS:: NC_000023.11:g.21715304GC[1], NC_000023.11:g.21715304GC[2], NC_000023.11:g.21715304GC[4], NC_000023.11:g.21715304GC[5], NC_000023.11:g.21715304GC[6], NC_000023.11:g.21715304GC[7], NC_000023.10:g.21733422GC[1], NC_000023.10:g.21733422GC[2], NC_000023.10:g.21733422GC[4], NC_000023.10:g.21733422GC[5], NC_000023.10:g.21733422GC[6], NC_000023.10:g.21733422GC[7], NG_031916.1:g.47852GC[1], NG_031916.1:g.47852GC[2], NG_031916.1:g.47852GC[4], NG_031916.1:g.47852GC[5], NG_031916.1:g.47852GC[6], NG_031916.1:g.47852GC[7]

Select item 14914427365.

rs1491442736 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: X:21715260 (GRCh38)
X:21733379 (GRCh37)
Canonical SPDI:: NC_000023.11:21715260:T:TGT,NC_000023.11:21715260:T:TGTGT
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000023.11:g.21715261_21715262insGT, NC_000023.11:g.21715261_21715262insGTGT, NC_000023.10:g.21733379_21733380insGT, NC_000023.10:g.21733379_21733380insGTGT, NG_031916.1:g.47900_47901insCA, NG_031916.1:g.47900_47901insCACA

Select item 14910868846.

rs1491086884 has merged into rs201567486 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: X:21735512 (GRCh38)
X:21753630 (GRCh37)
Canonical SPDI:: NC_000023.11:21735510:TTT:T
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.21735512_21735513del, NC_000023.10:g.21753630_21753631del, NG_031916.1:g.27649_27650del

Select item 14910620397.

rs1491062039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: X:21715265 (GRCh38)
X:21733384 (GRCh37)
Canonical SPDI:: NC_000023.11:21715265:G:GGG
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000023.11:g.21715266_21715267insGG, NC_000023.10:g.21733384_21733385insGG, NG_031916.1:g.47895_47896insCC

Select item 14908174278.

rs1490817427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21727842 (GRCh38)
X:21745960 (GRCh37)
Canonical SPDI:: NC_000023.11:21727841:T:C
Gene:: SMPX (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.21727842T>C, NC_000023.10:g.21745960T>C, NG_031916.1:g.35319A>G

Select item 14907322599.

rs1490732259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:21756597 (GRCh38)
X:21774715 (GRCh37)
Canonical SPDI:: NC_000023.11:21756596:A:C
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.21756597A>C, NC_000023.10:g.21774715A>C, NG_031916.1:g.6564T>G

Select item 149065094810.

rs1490650948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21748554 (GRCh38)
X:21766672 (GRCh37)
Canonical SPDI:: NC_000023.11:21748553:T:C
Gene:: SMPX (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.21748554T>C, NC_000023.10:g.21766672T>C, NG_031916.1:g.14607A>G

Select item 149056184011.

rs1490561840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21723621 (GRCh38)
X:21741739 (GRCh37)
Canonical SPDI:: NC_000023.11:21723620:T:C
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.21723621T>C, NC_000023.10:g.21741739T>C, NG_031916.1:g.39540A>G

Select item 149052673912.

rs1490526739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:21725472 (GRCh38)
X:21743590 (GRCh37)
Canonical SPDI:: NC_000023.11:21725471:G:A
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.21725472G>A, NC_000023.10:g.21743590G>A, NG_031916.1:g.37689C>T

Select item 149051250513.

rs1490512505 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:21715159 (GRCh38)
X:21733277 (GRCh37)
Canonical SPDI:: NC_000023.11:21715158:A:
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21715159del, NC_000023.10:g.21733277del, NG_031916.1:g.48002del

Select item 149046135214.

rs1490461352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:21737252 (GRCh38)
X:21755370 (GRCh37)
Canonical SPDI:: NC_000023.11:21737251:C:T
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21737252C>T, NC_000023.10:g.21755370C>T, NG_031916.1:g.25909G>A

Select item 149036229915.

rs1490362299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21713823 (GRCh38)
X:21731941 (GRCh37)
Canonical SPDI:: NC_000023.11:21713822:T:C
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.21713823T>C, NC_000023.10:g.21731941T>C, NG_031916.1:g.49338A>G

Select item 149021839016.

rs1490218390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:21726918 (GRCh38)
X:21745036 (GRCh37)
Canonical SPDI:: NC_000023.11:21726917:C:T
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_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.21726918C>T, NC_000023.10:g.21745036C>T, NG_031916.1:g.36243G>A

Select item 149020375117.

rs1490203751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:21722549 (GRCh38)
X:21740667 (GRCh37)
Canonical SPDI:: NC_000023.11:21722548:C:A
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000038/4 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.21722549C>A, NC_000023.10:g.21740667C>A, NG_031916.1:g.40612G>T

Select item 149010728918.

rs1490107289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:21717021 (GRCh38)
X:21735139 (GRCh37)
Canonical SPDI:: NC_000023.11:21717020:C:A
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.21717021C>A, NC_000023.10:g.21735139C>A, NG_031916.1:g.46140G>T

Select item 148996219419.

rs1489962194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:21738111 (GRCh38)
X:21756229 (GRCh37)
Canonical SPDI:: NC_000023.11:21738110:A:C
Gene:: SMPX (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.21738111A>C, NC_000023.10:g.21756229A>C, NG_031916.1:g.25050T>G

Select item 148994449920.

rs1489944499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:21716328 (GRCh38)
X:21734446 (GRCh37)
Canonical SPDI:: NC_000023.11:21716327:C:T
Gene:: SMPX (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.21716328C>T, NC_000023.10:g.21734446C>T, NG_031916.1:g.46833G>A

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