SNP Links for Gene (Select 90871) - SNP

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Select item 14905457031.

rs1490545703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:7799816 (GRCh38)
9:7799816 (GRCh37)
Canonical SPDI:: NC_000009.12:7799815:G:A
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.7799816G>A, NC_000009.11:g.7799816G>A

Select item 14901993502.

rs1490199350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:7800186 (GRCh38)
9:7800186 (GRCh37)
Canonical SPDI:: NC_000009.12:7800185:T:C
Gene:: DMAC1 (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_000009.12:g.7800186T>C, NC_000009.11:g.7800186T>C

Select item 14896348583.

rs1489634858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:7799985 (GRCh38)
9:7799985 (GRCh37)
Canonical SPDI:: NC_000009.12:7799984:C:T
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.7799985C>T, NC_000009.11:g.7799985C>T

Select item 14894643174.

rs1489464317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:7801701 (GRCh38)
9:7801701 (GRCh37)
Canonical SPDI:: NC_000009.12:7801700:T:A
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.7801701T>A, NC_000009.11:g.7801701T>A

Select item 14893422645.

rs1489342264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:7799342 (GRCh38)
9:7799342 (GRCh37)
Canonical SPDI:: NC_000009.12:7799341:C:G,NC_000009.12:7799341:C:T
Gene:: DMAC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.7799342C>G, NC_000009.12:g.7799342C>T, NC_000009.11:g.7799342C>G, NC_000009.11:g.7799342C>T

Select item 14892024686.

rs1489202468 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14879458637.

rs1487945863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:7799666 (GRCh38)
9:7799666 (GRCh37)
Canonical SPDI:: NC_000009.12:7799665:G:A
Gene:: DMAC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.7799666G>A, NC_000009.11:g.7799666G>A, NM_033428.3:c.69C>T, NM_033428.2:c.69C>T, NM_033428.1:c.69C>T, NM_001318058.2:c.69C>T, NM_001318058.1:c.69C>T, NM_001318059.2:c.69C>T, NM_001318059.1:c.69C>T

Select item 14877250498.

rs1487725049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:7801307 (GRCh38)
9:7801307 (GRCh37)
Canonical SPDI:: NC_000009.12:7801306:A:T
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.7801307A>T, NC_000009.11:g.7801307A>T

Select item 14866304549.

rs1486630454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:7797182 (GRCh38)
9:7797182 (GRCh37)
Canonical SPDI:: NC_000009.12:7797181:T:C
Gene:: DMAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.7797182T>C, NC_000009.11:g.7797182T>C, NM_033428.3:c.*1391A>G, NM_033428.2:c.*1391A>G, NM_033428.1:c.*1391A>G, NM_001318058.2:c.*1391A>G, NM_001318058.1:c.*1391A>G, NM_001318059.2:c.*1254A>G, NM_001318059.1:c.*1254A>G

Select item 148573452410.

rs1485734524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:7801398 (GRCh38)
9:7801398 (GRCh37)
Canonical SPDI:: NC_000009.12:7801397:T:C,NC_000009.12:7801397:T:G
Gene:: DMAC1 (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)
HGVS:: NC_000009.12:g.7801398T>C, NC_000009.12:g.7801398T>G, NC_000009.11:g.7801398T>C, NC_000009.11:g.7801398T>G

Select item 148570610411.

rs1485706104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:7796252 (GRCh38)
9:7796252 (GRCh37)
Canonical SPDI:: NC_000009.12:7796251:C:A,NC_000009.12:7796251:C:T
Gene:: DMAC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.7796252C>A, NC_000009.12:g.7796252C>T, NC_000009.11:g.7796252C>A, NC_000009.11:g.7796252C>T

Select item 148505623912.

rs1485056239 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAGG>- [Show Flanks]
Chromosome:: 9:7797717 (GRCh38)
9:7797717 (GRCh37)
Canonical SPDI:: NC_000009.12:7797716:AAAGG:
Gene:: DMAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.004/18 (ALFA)
HGVS:: NC_000009.12:g.7797717_7797721del, NC_000009.11:g.7797717_7797721del, NM_033428.3:c.*852_*856del, NM_033428.2:c.*852_*856del, NM_033428.1:c.*852_*856del, NM_001318058.2:c.*852_*856del, NM_001318058.1:c.*852_*856del, NM_001318059.2:c.*715_*719del, NM_001318059.1:c.*715_*719del

Select item 148475934513.

rs1484759345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:7798757 (GRCh38)
9:7798757 (GRCh37)
Canonical SPDI:: NC_000009.12:7798756:C:A,NC_000009.12:7798756:C:G,NC_000009.12:7798756:C:T
Gene:: DMAC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00053/9 (TOMMO)
HGVS:: NC_000009.12:g.7798757C>A, NC_000009.12:g.7798757C>G, NC_000009.12:g.7798757C>T, NC_000009.11:g.7798757C>A, NC_000009.11:g.7798757C>G, NC_000009.11:g.7798757C>T

Select item 148386721214.

rs1483867212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:7801222 (GRCh38)
9:7801222 (GRCh37)
Canonical SPDI:: NC_000009.12:7801221:G:C
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.7801222G>C, NC_000009.11:g.7801222G>C

Select item 148360908615.

rs1483609086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:7799886 (GRCh38)
9:7799886 (GRCh37)
Canonical SPDI:: NC_000009.12:7799885:C:T
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000009.12:g.7799886C>T, NC_000009.11:g.7799886C>T

Select item 148299549716.

rs1482995497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:7797295 (GRCh38)
9:7797295 (GRCh37)
Canonical SPDI:: NC_000009.12:7797294:T:C,NC_000009.12:7797294:T:G
Gene:: DMAC1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000009.12:g.7797295T>C, NC_000009.12:g.7797295T>G, NC_000009.11:g.7797295T>C, NC_000009.11:g.7797295T>G, NM_033428.3:c.*1278A>G, NM_033428.3:c.*1278A>C, NM_033428.2:c.*1278A>G, NM_033428.2:c.*1278A>C, NM_033428.1:c.*1278A>G, NM_033428.1:c.*1278A>C, NM_001318058.2:c.*1278A>G, NM_001318058.2:c.*1278A>C, NM_001318058.1:c.*1278A>G, NM_001318058.1:c.*1278A>C, NM_001318059.2:c.*1141A>G, NM_001318059.2:c.*1141A>C, NM_001318059.1:c.*1141A>G, NM_001318059.1:c.*1141A>C

Select item 148289335017.

rs1482893350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:7796663 (GRCh38)
9:7796663 (GRCh37)
Canonical SPDI:: NC_000009.12:7796662:G:A
Gene:: DMAC1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000009.12:g.7796663G>A, NC_000009.11:g.7796663G>A, NM_033428.3:c.*1910C>T, NM_033428.2:c.*1910C>T, NM_033428.1:c.*1910C>T, NM_001318058.2:c.*1910C>T, NM_001318058.1:c.*1910C>T, NM_001318059.2:c.*1773C>T, NM_001318059.1:c.*1773C>T

Select item 148283057818.

rs1482830578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:7801099 (GRCh38)
9:7801099 (GRCh37)
Canonical SPDI:: NC_000009.12:7801098:T:A
Gene:: DMAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.7801099T>A, NC_000009.11:g.7801099T>A

Select item 148265014019.

rs1482650140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:7796079 (GRCh38)
9:7796079 (GRCh37)
Canonical SPDI:: NC_000009.12:7796078:T:C
Gene:: DMAC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.7796079T>C, NC_000009.11:g.7796079T>C

Select item 148205918120.

rs1482059181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 9:7796603 (GRCh38)
9:7796603 (GRCh37)
Canonical SPDI:: NC_000009.12:7796598:AACAACA:AACA
Gene:: DMAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.7796600ACA[1], NC_000009.11:g.7796600ACA[1], NM_033428.3:c.*1969GTT[1], NM_033428.2:c.*1969GTT[1], NM_033428.1:c.*1969GTT[1], NM_001318058.2:c.*1969GTT[1], NM_001318058.1:c.*1969GTT[1], NM_001318059.2:c.*1832GTT[1], NM_001318059.1:c.*1832GTT[1]

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