SNP Links for Gene (Select 103752589) - SNP

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Select item 14896311721.

rs1489631172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50282888 (GRCh38)
17:48360249 (GRCh37)
Canonical SPDI:: NC_000017.11:50282887:G:A
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD)
A=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.50282888G>A, NC_000017.10:g.48360249G>A, NG_054733.1:g.16483G>A

Select item 14895695312.

rs1489569531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:50287291 (GRCh38)
17:48364652 (GRCh37)
Canonical SPDI:: NC_000017.11:50287290:C:G
Gene:: TMEM92-AS1 (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_000017.11:g.50287291C>G, NC_000017.10:g.48364652C>G

Select item 14887488423.

rs1488748842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:50283942 (GRCh38)
17:48361303 (GRCh37)
Canonical SPDI:: NC_000017.11:50283941:G:C
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000895/4 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.50283942G>C, NC_000017.10:g.48361303G>C

Select item 14885829744.

rs1488582974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50286806 (GRCh38)
17:48364167 (GRCh37)
Canonical SPDI:: NC_000017.11:50286805:T:C
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.50286806T>C, NC_000017.10:g.48364167T>C

Select item 14885032895.

rs1488503289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:50289668 (GRCh38)
17:48367029 (GRCh37)
Canonical SPDI:: NC_000017.11:50289667:A:T
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.50289668A>T, NC_000017.10:g.48367029A>T

Select item 14878769866.

rs1487876986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50287119 (GRCh38)
17:48364480 (GRCh37)
Canonical SPDI:: NC_000017.11:50287118:C:T
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.50287119C>T, NC_000017.10:g.48364480C>T

Select item 14873549357.

rs1487354935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:50281668 (GRCh38)
17:48359029 (GRCh37)
Canonical SPDI:: NC_000017.11:50281667:G:A,NC_000017.11:50281667:G:C,NC_000017.11:50281667:G:T
Gene:: TMEM92 (Varview), TMEM92-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.50281668G>A, NC_000017.11:g.50281668G>C, NC_000017.11:g.50281668G>T, NC_000017.10:g.48359029G>A, NC_000017.10:g.48359029G>C, NC_000017.10:g.48359029G>T, NG_054733.1:g.15263G>A, NG_054733.1:g.15263G>C, NG_054733.1:g.15263G>T, NR_125805.1:n.659C>T, NR_125805.1:n.659C>G, NR_125805.1:n.659C>A

Select item 14870449338.

rs1487044933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50289577 (GRCh38)
17:48366938 (GRCh37)
Canonical SPDI:: NC_000017.11:50289576:A:G
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000049/13 (TOPMED)
HGVS:: NC_000017.11:g.50289577A>G, NC_000017.10:g.48366938A>G

Select item 14860645049.

rs1486064504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50285632 (GRCh38)
17:48362993 (GRCh37)
Canonical SPDI:: NC_000017.11:50285631:C:A
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50285632C>A, NC_000017.10:g.48362993C>A

Select item 148550327610.

rs1485503276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:50286654 (GRCh38)
17:48364015 (GRCh37)
Canonical SPDI:: NC_000017.11:50286653:T:G
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.50286654T>G, NC_000017.10:g.48364015T>G

Select item 148545009811.

rs1485450098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50284603 (GRCh38)
17:48361964 (GRCh37)
Canonical SPDI:: NC_000017.11:50284602:T:C
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.50284603T>C, NC_000017.10:g.48361964T>C

Select item 148414614712.

rs1484146147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50283857 (GRCh38)
17:48361218 (GRCh37)
Canonical SPDI:: NC_000017.11:50283856:T:C
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.50283857T>C, NC_000017.10:g.48361218T>C

Select item 148384490813.

rs1483844908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:50282841 (GRCh38)
17:48360202 (GRCh37)
Canonical SPDI:: NC_000017.11:50282840:C:G
Gene:: TMEM92-AS1 (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_000017.11:g.50282841C>G, NC_000017.10:g.48360202C>G, NG_054733.1:g.16436C>G

Select item 148355233814.

rs1483552338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50284803 (GRCh38)
17:48362164 (GRCh37)
Canonical SPDI:: NC_000017.11:50284802:G:A
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50284803G>A, NC_000017.10:g.48362164G>A

Select item 148313804515.

rs1483138045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50284383 (GRCh38)
17:48361744 (GRCh37)
Canonical SPDI:: NC_000017.11:50284382:A:G
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50284383A>G, NC_000017.10:g.48361744A>G

Select item 148251541916.

rs1482515419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50281313 (GRCh38)
17:48358674 (GRCh37)
Canonical SPDI:: NC_000017.11:50281312:C:T
Gene:: TMEM92 (Varview), TMEM92-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.0003/1 (KOREAN)
HGVS:: NC_000017.11:g.50281313C>T, NC_000017.10:g.48358674C>T, NG_054733.1:g.14908C>T, NM_153229.3:c.*2005C>T, NM_153229.2:c.*2005C>T, NM_001168215.2:c.*2005C>T, NM_001168215.1:c.*2005C>T, XM_006721730.4:c.*2005C>T, XM_006721730.2:c.*2005C>T

Select item 148225730817.

rs1482257308 [Homo sapiens]

Variant type:: DEL
Alleles:: GTC>- [Show Flanks]
Chromosome:: 17:50283035 (GRCh38)
17:48360396 (GRCh37)
Canonical SPDI:: NC_000017.11:50283034:GTC:
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50283035_50283037del, NC_000017.10:g.48360396_48360398del, NG_054733.1:g.16630_16632del

Select item 148206009118.

rs1482060091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50288669 (GRCh38)
17:48366030 (GRCh37)
Canonical SPDI:: NC_000017.11:50288668:A:G
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: 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_000017.11:g.50288669A>G, NC_000017.10:g.48366030A>G

Select item 148185854419.

rs1481858544 has merged into rs3062762 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>-,CAAACAAA,CAAACAAACAAA,CAAACAAACAAACAAACAAA [Show Flanks]
Chromosome:: 17:50282921 (GRCh38)
17:48360282 (GRCh37)
Canonical SPDI:: NC_000017.11:50282909:AAACAAACAAACAAA:AAACAAACAAA,NC_000017.11:50282909:AAACAAACAAACAAA:AAACAAACAAACAAACAAA,NC_000017.11:50282909:AAACAAACAAACAAA:AAACAAACAAACAAACAAACAAA,NC_000017.11:50282909:AAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAA
Gene:: TMEM92-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAACAAACAAACAAA=0./0 (ALFA)
-=0.125/1 (KOREAN)
-=0.19464/3262 (TOMMO)
-=0.23308/427 (Korea1K)
-=0.31663/316 (GoNL)
-=0.31674/1419 (Estonian)
-=0.31837/1227 (ALSPAC)
-=0.3541/1313 (TWINSUK)
-=0.39277/1967 (1000Genomes)
HGVS:: NC_000017.11:g.50282913CAAA[2], NC_000017.11:g.50282913CAAA[4], NC_000017.11:g.50282913CAAA[5], NC_000017.11:g.50282913CAAA[7], NC_000017.10:g.48360274CAAA[2], NC_000017.10:g.48360274CAAA[4], NC_000017.10:g.48360274CAAA[5], NC_000017.10:g.48360274CAAA[7], NG_054733.1:g.16508CAAA[2], NG_054733.1:g.16508CAAA[4], NG_054733.1:g.16508CAAA[5], NG_054733.1:g.16508CAAA[7]

Select item 148137675120.

rs1481376751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50281640 (GRCh38)
17:48359001 (GRCh37)
Canonical SPDI:: NC_000017.11:50281639:A:G
Gene:: TMEM92 (Varview), TMEM92-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50281640A>G, NC_000017.10:g.48359001A>G, NG_054733.1:g.15235A>G, NR_125805.1:n.687T>C

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