SNP Links for Gene (Select 121214) - SNP

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Items: 1 to 20 of 2914

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Select item 14908065731.

rs1490806573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56922991 (GRCh38)
12:57316775 (GRCh37)
Canonical SPDI:: NC_000012.12:56922990:G:A
Gene:: SDR9C7 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.56922991G>A, NC_000012.11:g.57316775G>A

Select item 14906269302.

rs1490626930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:56923128 (GRCh38)
12:57316912 (GRCh37)
Canonical SPDI:: NC_000012.12:56923127:C:G
Gene:: SDR9C7 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.56923128C>G, NC_000012.11:g.57316912C>G

Select item 14904312313.

rs1490431231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56931434 (GRCh38)
12:57325218 (GRCh37)
Canonical SPDI:: NC_000012.12:56931433:C:T
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.56931434C>T, NC_000012.11:g.57325218C>T

Select item 14904053924.

rs1490405392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56930245 (GRCh38)
12:57324029 (GRCh37)
Canonical SPDI:: NC_000012.12:56930244:C:T
Gene:: SDR9C7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56930245C>T, NC_000012.11:g.57324029C>T, NM_148897.3:c.541G>A, NM_148897.2:c.541G>A, NP_683695.1:p.Ala181Thr

Select item 14895936435.

rs1489593643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56926360 (GRCh38)
12:57320144 (GRCh37)
Canonical SPDI:: NC_000012.12:56926359:C:T
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000098/26 (TOPMED)
HGVS:: NC_000012.12:g.56926360C>T, NC_000012.11:g.57320144C>T

Select item 14895251646.

rs1489525164 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 12:56924535 (GRCh38)
12:57318319 (GRCh37)
Canonical SPDI:: NC_000012.12:56924530:AGAAGAA:AGAA
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAA=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.56924532GAA[1], NC_000012.11:g.57318316GAA[1]

Select item 14894650027.

rs1489465002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56927207 (GRCh38)
12:57320991 (GRCh37)
Canonical SPDI:: NC_000012.12:56927206:G:A
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.56927207G>A, NC_000012.11:g.57320991G>A

Select item 14893869968.

rs1489386996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:56932106 (GRCh38)
12:57325890 (GRCh37)
Canonical SPDI:: NC_000012.12:56932105:A:T
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.56932106A>T, NC_000012.11:g.57325890A>T

Select item 14893761159.

rs1489376115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56929588 (GRCh38)
12:57323372 (GRCh37)
Canonical SPDI:: NC_000012.12:56929587:A:G
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56929588A>G, NC_000012.11:g.57323372A>G

Select item 148927134310.

rs1489271343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56926271 (GRCh38)
12:57320055 (GRCh37)
Canonical SPDI:: NC_000012.12:56926270:G:A
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_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_000012.12:g.56926271G>A, NC_000012.11:g.57320055G>A

Select item 148876515811.

rs1488765158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56928103 (GRCh38)
12:57321887 (GRCh37)
Canonical SPDI:: NC_000012.12:56928102:T:C
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000342/1 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.56928103T>C, NC_000012.11:g.57321887T>C

Select item 148876114612.

rs1488761146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56933200 (GRCh38)
12:57326984 (GRCh37)
Canonical SPDI:: NC_000012.12:56933199:G:A
Gene:: SDR9C7 (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_000012.12:g.56933200G>A, NC_000012.11:g.57326984G>A

Select item 148854475513.

rs1488544755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56924084 (GRCh38)
12:57317868 (GRCh37)
Canonical SPDI:: NC_000012.12:56924083:T:C
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.56924084T>C, NC_000012.11:g.57317868T>C

Select item 148765879014.

rs1487658790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56935140 (GRCh38)
12:57328924 (GRCh37)
Canonical SPDI:: NC_000012.12:56935139:G:A
Gene:: SDR9C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00027/5 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000064/9 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.56935140G>A, NC_000012.11:g.57328924G>A

Select item 148756059415.

rs1487560594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56923602 (GRCh38)
12:57317386 (GRCh37)
Canonical SPDI:: NC_000012.12:56923601:C:T
Gene:: SDR9C7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.56923602C>T, NC_000012.11:g.57317386C>T, NM_148897.3:c.*231G>A, NM_148897.2:c.*231G>A

Select item 148709485216.

rs1487094852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:56925013 (GRCh38)
12:57318797 (GRCh37)
Canonical SPDI:: NC_000012.12:56925012:C:A
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56925013C>A, NC_000012.11:g.57318797C>A

Select item 148692044317.

rs1486920443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:56926702 (GRCh38)
12:57320486 (GRCh37)
Canonical SPDI:: NC_000012.12:56926701:T:A
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_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_000012.12:g.56926702T>A, NC_000012.11:g.57320486T>A

Select item 148677733718.

rs1486777337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56935271 (GRCh38)
12:57329055 (GRCh37)
Canonical SPDI:: NC_000012.12:56935270:A:G
Gene:: SDR9C7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56935271A>G, NC_000012.11:g.57329055A>G

Select item 148640841219.

rs1486408412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56932148 (GRCh38)
12:57325932 (GRCh37)
Canonical SPDI:: NC_000012.12:56932147:G:T
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56932148G>T, NC_000012.11:g.57325932G>T

Select item 148624651520.

rs1486246515 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCTCAGCAGCCCCA>- [Show Flanks]
Chromosome:: 12:56931807 (GRCh38)
12:57325591 (GRCh37)
Canonical SPDI:: NC_000012.12:56931798:CAGCCCCAGCCTCAGCAGCCCCA:CAGCCCCA
Gene:: SDR9C7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCCCCA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.001092/2 (Korea1K)
-=0.001345/23 (TOMMO)
HGVS:: NC_000012.12:g.56931807_56931821del, NC_000012.11:g.57325591_57325605del

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