SNP Links for Gene (Select 79024) - SNP

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Select item 14910891091.

rs1491089109 has merged into rs35136338 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 13:44157564 (GRCh38)
13:44731700 (GRCh37)
Canonical SPDI:: NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACA,NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACACACA,NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000013.11:44157550:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
AC=0.4878/2443 (1000Genomes)
HGVS:: NC_000013.11:g.44157552CA[6], NC_000013.11:g.44157552CA[8], NC_000013.11:g.44157552CA[9], NC_000013.11:g.44157552CA[11], NC_000013.11:g.44157552CA[12], NC_000013.11:g.44157552CA[13], NC_000013.11:g.44157552CA[14], NC_000013.10:g.44731688CA[6], NC_000013.10:g.44731688CA[8], NC_000013.10:g.44731688CA[9], NC_000013.10:g.44731688CA[11], NC_000013.10:g.44731688CA[12], NC_000013.10:g.44731688CA[13], NC_000013.10:g.44731688CA[14]

Select item 14909964502.

rs1490996450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:44150540 (GRCh38)
13:44724676 (GRCh37)
Canonical SPDI:: NC_000013.11:44150539:G:A
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview), SMIM2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.44150540G>A, NC_000013.10:g.44724676G>A

Select item 14906249693.

rs1490624969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:44159726 (GRCh38)
13:44733862 (GRCh37)
Canonical SPDI:: NC_000013.11:44159725:A:G
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.44159726A>G, NC_000013.10:g.44733862A>G

Select item 14905659264.

rs1490565926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:44151653 (GRCh38)
13:44725789 (GRCh37)
Canonical SPDI:: NC_000013.11:44151652:A:C
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview), SMIM2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.44151653A>C, NC_000013.10:g.44725789A>C

Select item 14903696485.

rs1490369648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:44158681 (GRCh38)
13:44732817 (GRCh37)
Canonical SPDI:: NC_000013.11:44158680:A:G
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.44158681A>G, NC_000013.10:g.44732817A>G

Select item 14903013626.

rs1490301362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:44158705 (GRCh38)
13:44732841 (GRCh37)
Canonical SPDI:: NC_000013.11:44158704:G:A
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44158705G>A, NC_000013.10:g.44732841G>A

Select item 14902388877.

rs1490238887 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 13:44149088 (GRCh38)
13:44723224 (GRCh37)
Canonical SPDI:: NC_000013.11:44149084:AAAAA:AAA,NC_000013.11:44149084:AAAAA:AAAA
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview), SMIM2-AS1 (Varview), LINC00390 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000142/2 (ALFA)
-=0.000072/19 (TOPMED)
-=0.0001/14 (GnomAD)
HGVS:: NC_000013.11:g.44149088_44149089del, NC_000013.11:g.44149089del, NC_000013.10:g.44723224_44723225del, NC_000013.10:g.44723225del

Select item 14902083878.

rs1490208387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:44151671 (GRCh38)
13:44725807 (GRCh37)
Canonical SPDI:: NC_000013.11:44151670:T:C
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview), SMIM2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.44151671T>C, NC_000013.10:g.44725807T>C

Select item 14899775959.

rs1489977595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:44160751 (GRCh38)
13:44734887 (GRCh37)
Canonical SPDI:: NC_000013.11:44160750:G:A
Gene:: SMIM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000027/4 (GnomAD_exomes)
HGVS:: NC_000013.11:g.44160751G>A, NC_000013.10:g.44734887G>A, NM_024058.3:c.105C>T, NM_024058.2:c.105C>T

Select item 148987840910.

rs1489878409 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:44158192 (GRCh38)
13:44732328 (GRCh37)
Canonical SPDI:: NC_000013.11:44158191:G:
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44158192del, NC_000013.10:g.44732328del, NR_046843.1:n.31del

Select item 148982589511.

rs1489825895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:44149931 (GRCh38)
13:44724067 (GRCh37)
Canonical SPDI:: NC_000013.11:44149930:T:G
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview), SMIM2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.44149931T>G, NC_000013.10:g.44724067T>G

Select item 148981012612.

rs1489810126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44148686 (GRCh38)
13:44722822 (GRCh37)
Canonical SPDI:: NC_000013.11:44148685:C:T
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview), SMIM2-AS1 (Varview), LINC00390 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.44148686C>T, NC_000013.10:g.44722822C>T

Select item 148965510513.

rs1489655105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44160650 (GRCh38)
13:44734786 (GRCh37)
Canonical SPDI:: NC_000013.11:44160649:C:T
Gene:: SMIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.44160650C>T, NC_000013.10:g.44734786C>T, NM_024058.3:c.206G>A, NM_024058.2:c.206G>A, NP_076963.1:p.Arg69Lys

Select item 148950238514.

rs1489502385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:44144637 (GRCh38)
13:44718773 (GRCh37)
Canonical SPDI:: NC_000013.11:44144636:G:C
Gene:: SMIM2 (Varview), SMIM2-AS1 (Varview), LINC00390 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.44144637G>C, NC_000013.10:g.44718773G>C

Select item 148949442215.

rs1489494422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:44160737 (GRCh38)
13:44734873 (GRCh37)
Canonical SPDI:: NC_000013.11:44160736:A:G
Gene:: SMIM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.44160737A>G, NC_000013.10:g.44734873A>G, NM_024058.3:c.119T>C, NM_024058.2:c.119T>C, NP_076963.1:p.Ile40Thr

Select item 148946315316.

rs1489463153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44162027 (GRCh38)
13:44736163 (GRCh37)
Canonical SPDI:: NC_000013.11:44162026:C:T
Gene:: SMIM2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.44162027C>T, NC_000013.10:g.44736163C>T

Select item 148945707917.

rs1489457079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:44161572 (GRCh38)
13:44735708 (GRCh37)
Canonical SPDI:: NC_000013.11:44161571:A:G,NC_000013.11:44161571:A:T
Gene:: SMIM2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.44161572A>G, NC_000013.11:g.44161572A>T, NC_000013.10:g.44735708A>G, NC_000013.10:g.44735708A>T

Select item 148944482918.

rs1489444829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:44158713 (GRCh38)
13:44732849 (GRCh37)
Canonical SPDI:: NC_000013.11:44158712:A:G
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.44158713A>G, NC_000013.10:g.44732849A>G

Select item 148939248219.

rs1489392482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:44155918 (GRCh38)
13:44730054 (GRCh37)
Canonical SPDI:: NC_000013.11:44155917:T:G
Gene:: SMIM2 (Varview), SMIM2-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44155918T>G, NC_000013.10:g.44730054T>G

Select item 148931960420.

rs1489319604 has merged into rs1013137562 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 13:44143202 (GRCh38)
13:44717338 (GRCh37)
Canonical SPDI:: NC_000013.11:44143198:AAAAAAAAA:AAA,NC_000013.11:44143198:AAAAAAAAA:AAAAAAAA,NC_000013.11:44143198:AAAAAAAAA:AAAAAAAAAA
Gene:: SMIM2 (Varview), SMIM2-AS1 (Varview), LINC00390 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.44143202_44143207del, NC_000013.11:g.44143207del, NC_000013.11:g.44143207dup, NC_000013.10:g.44717338_44717343del, NC_000013.10:g.44717343del, NC_000013.10:g.44717343dup, NM_024058.3:c.*714_*719del, NM_024058.3:c.*719del, NM_024058.3:c.*719dup, NM_024058.2:c.*714_*719del, NM_024058.2:c.*719del, NM_024058.2:c.*719dup

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