SNP Links for Gene (Select 147015) - SNP

Links from Gene

Items: 1 to 20 of 2073

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Select item 14909712981.

rs1490971298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28897345 (GRCh38)
17:27224363 (GRCh37)
Canonical SPDI:: NC_000017.11:28897344:G:A,NC_000017.11:28897344:G:T
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000017.11:g.28897345G>A, NC_000017.11:g.28897345G>T, NC_000017.10:g.27224363G>A, NC_000017.10:g.27224363G>T

Select item 14903728942.

rs1490372894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28899922 (GRCh38)
17:27226940 (GRCh37)
Canonical SPDI:: NC_000017.11:28899921:C:T
Gene:: DHRS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00286/53 (ALFA)
HGVS:: NC_000017.11:g.28899922C>T, NC_000017.10:g.27226940C>T

Select item 14901544203.

rs1490154420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28898320 (GRCh38)
17:27225338 (GRCh37)
Canonical SPDI:: NC_000017.11:28898319:C:G,NC_000017.11:28898319:C:T
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28898320C>G, NC_000017.11:g.28898320C>T, NC_000017.10:g.27225338C>G, NC_000017.10:g.27225338C>T, NM_144683.4:c.*121G>C, NM_144683.4:c.*121G>A, NM_144683.3:c.*121G>C, NM_144683.3:c.*121G>A

Select item 14898684874.

rs1489868487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28898366 (GRCh38)
17:27225384 (GRCh37)
Canonical SPDI:: NC_000017.11:28898365:C:T
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28898366C>T, NC_000017.10:g.27225384C>T, NM_144683.4:c.*75G>A, NM_144683.3:c.*75G>A

Select item 14889853495.

rs1488985349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28902182 (GRCh38)
17:27229200 (GRCh37)
Canonical SPDI:: NC_000017.11:28902181:T:C
Gene:: DHRS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28902182T>C, NC_000017.10:g.27229200T>C

Select item 14889555866.

rs1488955586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28898434 (GRCh38)
17:27225452 (GRCh37)
Canonical SPDI:: NC_000017.11:28898433:C:A
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28898434C>A, NC_000017.10:g.27225452C>A, NM_144683.4:c.*7G>T, NM_144683.3:c.*7G>T

Select item 14886679107.

rs1488667910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28903139 (GRCh38)
17:27230157 (GRCh37)
Canonical SPDI:: NC_000017.11:28903138:G:A
Gene:: DHRS13 (Varview)
Functional Consequence:: 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_000017.11:g.28903139G>A, NC_000017.10:g.27230157G>A

Select item 14884406118.

rs1488440611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28900016 (GRCh38)
17:27227034 (GRCh37)
Canonical SPDI:: NC_000017.11:28900015:C:T
Gene:: DHRS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.28900016C>T, NC_000017.10:g.27227034C>T

Select item 14882890389.

rs1488289038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28903450 (GRCh38)
17:27230468 (GRCh37)
Canonical SPDI:: NC_000017.11:28903449:C:T
Gene:: DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.28903450C>T, NC_000017.10:g.27230468C>T

Select item 148722069410.

rs1487220694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28903182 (GRCh38)
17:27230200 (GRCh37)
Canonical SPDI:: NC_000017.11:28903181:G:C
Gene:: DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28903182G>C, NC_000017.10:g.27230200G>C

Select item 148676103311.

rs1486761033 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTCCT>- [Show Flanks]
Chromosome:: 17:28903678 (GRCh38)
17:27230696 (GRCh37)
Canonical SPDI:: NC_000017.11:28903676:TCCTTCCT:T
Gene:: DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00006/1 (TOMMO)
-=0.000128/14 (GnomAD)
HGVS:: NC_000017.11:g.28903678_28903684del, NC_000017.10:g.27230696_27230702del

Select item 148642385412.

rs1486423854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:28901244 (GRCh38)
17:27228262 (GRCh37)
Canonical SPDI:: NC_000017.11:28901243:T:A,NC_000017.11:28901243:T:C
Gene:: DHRS13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28901244T>A, NC_000017.11:g.28901244T>C, NC_000017.10:g.27228262T>A, NC_000017.10:g.27228262T>C, NM_144683.4:c.428A>T, NM_144683.4:c.428A>G, NM_144683.3:c.428A>T, NM_144683.3:c.428A>G, NP_653284.2:p.His143Leu, NP_653284.2:p.His143Arg

Select item 148605262613.

rs1486052626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28898128 (GRCh38)
17:27225146 (GRCh37)
Canonical SPDI:: NC_000017.11:28898127:C:G
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28898128C>G, NC_000017.10:g.27225146C>G, NM_144683.4:c.*313G>C, NM_144683.3:c.*313G>C

Select item 148569331414.

rs1485693314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:28904938 (GRCh38)
17:27231957 (GRCh37)
Canonical SPDI:: NC_000017.11:28904938:TTTTTT:TTTTTTT
Gene:: PHF12 (Varview), DHRS13 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28904944dup, NC_000017.10:g.27231962dup

Select item 148525906315.

rs1485259063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:28902835 (GRCh38)
17:27229853 (GRCh37)
Canonical SPDI:: NC_000017.11:28902834:C:A,NC_000017.11:28902834:C:T
Gene:: DHRS13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28902835C>A, NC_000017.11:g.28902835C>T, NC_000017.10:g.27229853C>A, NC_000017.10:g.27229853C>T, NM_144683.4:c.110G>T, NM_144683.4:c.110G>A, NM_144683.3:c.110G>T, NM_144683.3:c.110G>A, NP_653284.2:p.Arg37Leu, NP_653284.2:p.Arg37His

Select item 148500898716.

rs1485008987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28901089 (GRCh38)
17:27228107 (GRCh37)
Canonical SPDI:: NC_000017.11:28901088:G:A
Gene:: DHRS13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28901089G>A, NC_000017.10:g.27228107G>A, NM_144683.4:c.583C>T, NM_144683.3:c.583C>T, NP_653284.2:p.Arg195Trp

Select item 148413800317.

rs1484138003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28897595 (GRCh38)
17:27224613 (GRCh37)
Canonical SPDI:: NC_000017.11:28897594:C:T
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.28897595C>T, NC_000017.10:g.27224613C>T, NM_004475.3:c.-21G>A, NM_004475.2:c.-21G>A, NM_001330170.2:c.-21G>A, NM_001330170.1:c.-21G>A

Select item 148383716418.

rs1483837164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28897783 (GRCh38)
17:27224801 (GRCh37)
Canonical SPDI:: NC_000017.11:28897782:C:G,NC_000017.11:28897782:C:T
Gene:: FLOT2 (Varview), DHRS13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28897783C>G, NC_000017.11:g.28897783C>T, NC_000017.10:g.27224801C>G, NC_000017.10:g.27224801C>T, NM_144683.4:c.*658G>C, NM_144683.4:c.*658G>A, NM_144683.3:c.*658G>C, NM_144683.3:c.*658G>A

Select item 148318874919.

rs1483188749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:28901318 (GRCh38)
17:27228336 (GRCh37)
Canonical SPDI:: NC_000017.11:28901317:A:T
Gene:: DHRS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.28901318A>T, NC_000017.10:g.27228336A>T

Select item 148217429420.

rs1482174294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28900943 (GRCh38)
17:27227961 (GRCh37)
Canonical SPDI:: NC_000017.11:28900942:G:A,NC_000017.11:28900942:G:T
Gene:: DHRS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28900943G>A, NC_000017.11:g.28900943G>T, NC_000017.10:g.27227961G>A, NC_000017.10:g.27227961G>T

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