SNP Links for Gene (Select 105372645) - SNP

Links from Gene

Items: 1 to 20 of 2033

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Select item 14905369371.

rs1490536937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:48471237 (GRCh38)
20:47099483 (GRCh37)
Canonical SPDI:: NC_000020.11:48471236:C:G
Gene:: LOC105372645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000020.11:g.48471237C>G, NC_000020.10:g.47099483C>G

Select item 14905062492.

rs1490506249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:48470318 (GRCh38)
20:47098564 (GRCh37)
Canonical SPDI:: NC_000020.11:48470317:G:C
Gene:: LOC105372645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48470318G>C, NC_000020.10:g.47098564G>C

Select item 14903305003.

rs1490330500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:48472667 (GRCh38)
20:47100913 (GRCh37)
Canonical SPDI:: NC_000020.11:48472666:T:A,NC_000020.11:48472666:T:C
Gene:: LOC105372645 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.07865/933 (ALFA)
C=0.00405/316 (GnomAD)
C=0.00788/132 (TOMMO)
C=0.02192/64 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.48472667T>A, NC_000020.11:g.48472667T>C, NC_000020.10:g.47100913T>A, NC_000020.10:g.47100913T>C, XR_936815.3:n.861T>A, XR_936815.3:n.861T>C, XR_936815.2:n.883T>A, XR_936815.2:n.883T>C, XR_936815.1:n.883T>A, XR_936815.1:n.883T>C

Select item 14901919344.

rs1490191934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:48472734 (GRCh38)
20:47100980 (GRCh37)
Canonical SPDI:: NC_000020.11:48472733:A:C,NC_000020.11:48472733:A:T
Gene:: LOC105372645 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00064/18 (TOMMO)
C=0.00069/63 (GnomAD)
C=0.01849/54 (KOREAN)
HGVS:: NC_000020.11:g.48472734A>C, NC_000020.11:g.48472734A>T, NC_000020.10:g.47100980A>C, NC_000020.10:g.47100980A>T, XR_936815.3:n.928A>C, XR_936815.3:n.928A>T, XR_936815.2:n.950A>C, XR_936815.2:n.950A>T, XR_936815.1:n.950A>C, XR_936815.1:n.950A>T

Select item 14896160895.

rs1489616089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:48472534 (GRCh38)
20:47100780 (GRCh37)
Canonical SPDI:: NC_000020.11:48472533:T:C
Gene:: LOC105372645 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48472534T>C, NC_000020.10:g.47100780T>C, XR_936815.3:n.728T>C, XR_936815.2:n.750T>C, XR_936815.1:n.750T>C

Select item 14892628596.

rs1489262859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:48469558 (GRCh38)
20:47097804 (GRCh37)
Canonical SPDI:: NC_000020.11:48469557:A:G
Gene:: LOC105372645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48469558A>G, NC_000020.10:g.47097804A>G

Select item 14892348557.

rs1489234855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:48473326 (GRCh38)
20:47101572 (GRCh37)
Canonical SPDI:: NC_000020.11:48473325:G:T
Gene:: LOC105372645 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000066/1 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000020.11:g.48473326G>T, NC_000020.10:g.47101572G>T, XR_936815.3:n.1520G>T, XR_936815.2:n.1542G>T, XR_936815.1:n.1542G>T

Select item 14891992448.

rs1489199244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:48475808 (GRCh38)
20:47104054 (GRCh37)
Canonical SPDI:: NC_000020.11:48475807:G:A,NC_000020.11:48475807:G:C
Gene:: LOC107985439 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.48475808G>A, NC_000020.11:g.48475808G>C, NC_000020.10:g.47104054G>A, NC_000020.10:g.47104054G>C

Select item 14891932989.

rs1489193298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48470449 (GRCh38)
20:47098695 (GRCh37)
Canonical SPDI:: NC_000020.11:48470448:G:A
Gene:: LOC105372645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48470449G>A, NC_000020.10:g.47098695G>A

Select item 148912304210.

rs1489123042 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 20:48471597 (GRCh38)
20:47099843 (GRCh37)
Canonical SPDI:: NC_000020.11:48471596:A:
Gene:: LOC105372645 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000020.11:g.48471597del, NC_000020.10:g.47099843del

Select item 148885120211.

rs1488851202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:48476460 (GRCh38)
20:47104706 (GRCh37)
Canonical SPDI:: NC_000020.11:48476459:A:G
Gene:: LOC107985439 (Varview)
Functional Consequence:: non_coding_transcript_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_000020.11:g.48476460A>G, NC_000020.10:g.47104706A>G, XR_001754657.1:n.2918T>C

Select item 148882484812.

rs1488824848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:48472182 (GRCh38)
20:47100428 (GRCh37)
Canonical SPDI:: NC_000020.11:48472181:C:G,NC_000020.11:48472181:C:T
Gene:: LOC105372645 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.48472182C>G, NC_000020.11:g.48472182C>T, NC_000020.10:g.47100428C>G, NC_000020.10:g.47100428C>T, XR_936815.3:n.376C>G, XR_936815.3:n.376C>T, XR_936815.2:n.398C>G, XR_936815.2:n.398C>T, XR_936815.1:n.398C>G, XR_936815.1:n.398C>T

Select item 148819495013.

rs1488194950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48477374 (GRCh38)
20:47105620 (GRCh37)
Canonical SPDI:: NC_000020.11:48477373:C:T
Gene:: LOC107985439 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.48477374C>T, NC_000020.10:g.47105620C>T, XR_001754657.1:n.2004G>A

Select item 148804732214.

rs1488047322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:48470205 (GRCh38)
20:47098451 (GRCh37)
Canonical SPDI:: NC_000020.11:48470204:G:C
Gene:: LOC105372645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48470205G>C, NC_000020.10:g.47098451G>C

Select item 148762339215.

rs1487623392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:48469989 (GRCh38)
20:47098235 (GRCh37)
Canonical SPDI:: NC_000020.11:48469988:C:G,NC_000020.11:48469988:C:T
Gene:: LOC105372645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000020.11:g.48469989C>G, NC_000020.11:g.48469989C>T, NC_000020.10:g.47098235C>G, NC_000020.10:g.47098235C>T

Select item 148757498116.

rs1487574981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48473578 (GRCh38)
20:47101824 (GRCh37)
Canonical SPDI:: NC_000020.11:48473577:C:T
Gene:: LOC105372645 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000020.11:g.48473578C>T, NC_000020.10:g.47101824C>T

Select item 148746290317.

rs1487462903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:48471919 (GRCh38)
20:47100165 (GRCh37)
Canonical SPDI:: NC_000020.11:48471918:T:G
Gene:: LOC105372645 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.48471919T>G, NC_000020.10:g.47100165T>G

Select item 148696526018.

rs1486965260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:48472274 (GRCh38)
20:47100520 (GRCh37)
Canonical SPDI:: NC_000020.11:48472273:C:A
Gene:: LOC105372645 (Varview)
Functional Consequence:: non_coding_transcript_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_000020.11:g.48472274C>A, NC_000020.10:g.47100520C>A, XR_936815.3:n.468C>A, XR_936815.2:n.490C>A, XR_936815.1:n.490C>A

Select item 148694954419.

rs1486949544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:48476359 (GRCh38)
20:47104605 (GRCh37)
Canonical SPDI:: NC_000020.11:48476358:T:C
Gene:: LOC107985439 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/4 (GnomAD)
C=0.000781/5 (1000Genomes)
C=0.001132/19 (TOMMO)
C=0.007871/23 (KOREAN)
HGVS:: NC_000020.11:g.48476359T>C, NC_000020.10:g.47104605T>C, XR_001754657.1:n.3019A>G

Select item 148665620120.

rs1486656201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48474428 (GRCh38)
20:47102674 (GRCh37)
Canonical SPDI:: NC_000020.11:48474427:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48474428C>T, NC_000020.10:g.47102674C>T

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