SNP Links for Nucleotide (Select 302344754) - SNP

Links from Nucleotide

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Select item 14892534441.

rs1489253444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23969996 (GRCh38)
14:24439205 (GRCh37)
Canonical SPDI:: NC_000014.9:23969995:C:T
Gene:: DHRS4L2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23969996C>T, NC_000014.8:g.24439205C>T, NG_023545.1:g.5123C>T, NM_001193636.1:c.-512C>T, NM_001193637.1:c.-512C>T, NW_018654722.1:g.270977C>T

Select item 14891851802.

rs1489185180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24006310 (GRCh38)
14:24475519 (GRCh37)
Canonical SPDI:: NC_000014.9:24006309:G:A
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000014.9:g.24006310G>A, NC_000014.8:g.24475519G>A, NG_023545.1:g.41437G>A, NM_198083.4:c.*447G>A, NM_198083.3:c.*447G>A, NM_001193636.1:c.*447G>A, NM_001193637.1:c.*447G>A, NM_001193635.1:c.*447G>A, NW_018654722.1:g.312641G>A

Select item 14887449813.

rs1488744981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:24001058 (GRCh38)
14:24470267 (GRCh37)
Canonical SPDI:: NC_000014.9:24001057:T:A
Gene:: DHRS4L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24001058T>A, NC_000014.8:g.24470267T>A, NG_023545.1:g.36185T>A, NM_198083.4:c.505T>A, NM_198083.3:c.505T>A, NM_001193636.1:c.202T>A, NM_001193635.1:c.319T>A, NW_018654722.1:g.307392T>A, NP_932349.2:p.Ser169Thr, NP_001180565.1:p.Ser68Thr, NP_001180564.1:p.Ser107Thr

Select item 14875476084.

rs1487547608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24005931 (GRCh38)
14:24475140 (GRCh37)
Canonical SPDI:: NC_000014.9:24005930:C:T
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000014.9:g.24005931C>T, NC_000014.8:g.24475140C>T, NG_023545.1:g.41058C>T, NM_198083.4:c.*68C>T, NM_198083.3:c.*68C>T, NM_001193636.1:c.*68C>T, NM_001193637.1:c.*68C>T, NM_001193635.1:c.*68C>T, NW_018654722.1:g.312262C>T

Select item 14863178505.

rs1486317850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23970053 (GRCh38)
14:24439262 (GRCh37)
Canonical SPDI:: NC_000014.9:23970052:G:A
Gene:: DHRS4L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.23970053G>A, NC_000014.8:g.24439262G>A, NG_023545.1:g.5180G>A, NM_001193636.1:c.-455G>A, NM_001193637.1:c.-455G>A, NM_001193635.1:c.-236G>A, NW_018654722.1:g.271034G>A

Select item 14847612966.

rs1484761296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24005886 (GRCh38)
14:24475095 (GRCh37)
Canonical SPDI:: NC_000014.9:24005885:G:A
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24005886G>A, NC_000014.8:g.24475095G>A, NG_023545.1:g.41013G>A, NM_198083.4:c.*23G>A, NM_198083.3:c.*23G>A, NM_001193636.1:c.*23G>A, NM_001193637.1:c.*23G>A, NM_001193635.1:c.*23G>A, NW_018654722.1:g.312217G>A

Select item 14847013567.

rs1484701356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:23970132 (GRCh38)
14:24439341 (GRCh37)
Canonical SPDI:: NC_000014.9:23970131:G:A,NC_000014.9:23970131:G:T
Gene:: DHRS4L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000343/1 (KOREAN)
A=0.000548/1 (Korea1K)
HGVS:: NC_000014.9:g.23970132G>A, NC_000014.9:g.23970132G>T, NC_000014.8:g.24439341G>A, NC_000014.8:g.24439341G>T, NG_023545.1:g.5259G>A, NG_023545.1:g.5259G>T, NM_001193636.1:c.-376G>A, NM_001193636.1:c.-376G>T, NM_001193637.1:c.-376G>A, NM_001193637.1:c.-376G>T, NM_001193635.1:c.-157G>A, NM_001193635.1:c.-157G>T, NW_018654722.1:g.271113G>A, NW_018654722.1:g.271113G>T

Select item 14841708188.

rs1484170818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:23970193 (GRCh38)
14:24439402 (GRCh37)
Canonical SPDI:: NC_000014.9:23970192:A:C
Gene:: DHRS4L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
HGVS:: NC_000014.9:g.23970193A>C, NC_000014.8:g.24439402A>C, NG_023545.1:g.5320A>C, NM_001193636.1:c.-315A>C, NM_001193637.1:c.-315A>C, NW_018654722.1:g.271174A>C

Select item 14833545039.

rs1483354503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:24006394 (GRCh38)
14:24475604 (GRCh37)
Canonical SPDI:: NC_000014.9:24006394:GG:GGG
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24006396dup, NC_000014.8:g.24475605dup, NG_023545.1:g.41523dup, NM_198083.4:c.*533dup, NM_198083.3:c.*533dup, NM_001193636.1:c.*533dup, NM_001193637.1:c.*533dup, NM_001193635.1:c.*533dup, NW_018654722.1:g.312727dup

Select item 148289515810.

rs1482895158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24006119 (GRCh38)
14:24475328 (GRCh37)
Canonical SPDI:: NC_000014.9:24006118:C:T
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.24006119C>T, NC_000014.8:g.24475328C>T, NG_023545.1:g.41246C>T, NM_198083.4:c.*256C>T, NM_198083.3:c.*256C>T, NM_001193636.1:c.*256C>T, NM_001193637.1:c.*256C>T, NM_001193635.1:c.*256C>T, NW_018654722.1:g.312450C>T

Select item 148188422611.

rs1481884226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:23969958 (GRCh38)
14:24439167 (GRCh37)
Canonical SPDI:: NC_000014.9:23969957:A:C,NC_000014.9:23969957:A:G
Gene:: DHRS4L2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.23969958A>C, NC_000014.9:g.23969958A>G, NC_000014.8:g.24439167A>C, NC_000014.8:g.24439167A>G, NG_023545.1:g.5085A>C, NG_023545.1:g.5085A>G, NM_001193636.1:c.-550A>C, NM_001193636.1:c.-550A>G, NM_001193637.1:c.-550A>C, NM_001193637.1:c.-550A>G, NW_018654722.1:g.270939A>C, NW_018654722.1:g.270939A>G

Select item 148145728812.

rs1481457288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24006049 (GRCh38)
14:24475258 (GRCh37)
Canonical SPDI:: NC_000014.9:24006048:C:T
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000014.9:g.24006049C>T, NC_000014.8:g.24475258C>T, NG_023545.1:g.41176C>T, NM_198083.4:c.*186C>T, NM_198083.3:c.*186C>T, NM_001193636.1:c.*186C>T, NM_001193637.1:c.*186C>T, NM_001193635.1:c.*186C>T, NW_018654722.1:g.312380C>T

Select item 148038292813.

rs1480382928 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 14:24006186 (GRCh38)
14:24475395 (GRCh37)
Canonical SPDI:: NC_000014.9:24006185:G:
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24006186del, NC_000014.8:g.24475395del, NG_023545.1:g.41313del, NM_198083.4:c.*323del, NM_198083.3:c.*323del, NM_001193636.1:c.*323del, NM_001193637.1:c.*323del, NM_001193635.1:c.*323del, NW_018654722.1:g.312517del

Select item 147988625314.

rs1479886253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24001406 (GRCh38)
14:24470615 (GRCh37)
Canonical SPDI:: NC_000014.9:24001405:G:C
Gene:: DHRS4L2 (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=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24001406G>C, NC_000014.8:g.24470615G>C, NG_023545.1:g.36533G>C, NM_198083.4:c.554G>C, NM_198083.3:c.554G>C, NM_001193636.1:c.251G>C, NM_001193637.1:c.128G>C, NM_001193635.1:c.368G>C, NW_018654722.1:g.307740G>C, NP_932349.2:p.Ser185Thr, NP_001180565.1:p.Ser84Thr, NP_001180566.1:p.Ser43Thr, NP_001180564.1:p.Ser123Thr

Select item 147965644715.

rs1479656447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24006027 (GRCh38)
14:24475236 (GRCh37)
Canonical SPDI:: NC_000014.9:24006026:A:G
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24006027A>G, NC_000014.8:g.24475236A>G, NG_023545.1:g.41154A>G, NM_198083.4:c.*164A>G, NM_198083.3:c.*164A>G, NM_001193636.1:c.*164A>G, NM_001193637.1:c.*164A>G, NM_001193635.1:c.*164A>G, NW_018654722.1:g.312358A>G

Select item 147899908216.

rs1478999082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24001464 (GRCh38)
14:24470673 (GRCh37)
Canonical SPDI:: NC_000014.9:24001463:C:T
Gene:: DHRS4L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24001464C>T, NC_000014.8:g.24470673C>T, NG_023545.1:g.36591C>T, NM_198083.4:c.612C>T, NM_198083.3:c.612C>T, NM_001193636.1:c.309C>T, NM_001193637.1:c.186C>T, NM_001193635.1:c.426C>T, NW_018654722.1:g.307798C>T

Select item 147864597617.

rs1478645976 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:24006388 (GRCh38)
14:24475597 (GRCh37)
Canonical SPDI:: NC_000014.9:24006387:A:
Gene:: DHRS4L2 (Varview), DHRS4L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24006388del, NC_000014.8:g.24475597del, NG_023545.1:g.41515del, NM_198083.4:c.*525del, NM_198083.3:c.*525del, NM_001193636.1:c.*525del, NM_001193637.1:c.*525del, NM_001193635.1:c.*525del, NW_018654722.1:g.312719del

Select item 147613934718.

rs1476139347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:23970255 (GRCh38)
14:24439464 (GRCh37)
Canonical SPDI:: NC_000014.9:23970254:A:C,NC_000014.9:23970254:A:G
Gene:: DHRS4L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000111/14 (GnomAD_exomes)
C=0.000198/27 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.23970255A>C, NC_000014.9:g.23970255A>G, NC_000014.8:g.24439464A>C, NC_000014.8:g.24439464A>G, NG_023545.1:g.5382A>C, NG_023545.1:g.5382A>G, NM_001193636.1:c.-253A>C, NM_001193636.1:c.-253A>G, NM_001193637.1:c.-253A>C, NM_001193637.1:c.-253A>G, NM_001193635.1:c.-152A>C, NM_001193635.1:c.-152A>G, NW_018654722.1:g.271236A>C, NW_018654722.1:g.271236A>G

Select item 147535678419.

rs1475356784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:23970069 (GRCh38)
14:24439278 (GRCh37)
Canonical SPDI:: NC_000014.9:23970068:T:A
Gene:: DHRS4L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000014.9:g.23970069T>A, NC_000014.8:g.24439278T>A, NG_023545.1:g.5196T>A, NM_001193636.1:c.-439T>A, NM_001193637.1:c.-439T>A, NM_001193635.1:c.-220T>A, NW_018654722.1:g.271050T>A

Select item 147367604520.

rs1473676045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23970143 (GRCh38)
14:24439352 (GRCh37)
Canonical SPDI:: NC_000014.9:23970142:G:A
Gene:: DHRS4L2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000014.9:g.23970143G>A, NC_000014.8:g.24439352G>A, NG_023545.1:g.5270G>A, NM_001193636.1:c.-365G>A, NM_001193637.1:c.-365G>A, NW_018654722.1:g.271124G>A

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