SNP Links for Nucleotide (Select 304282233) - SNP

Links from Nucleotide

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Select item 14906086851.

rs1490608685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:57517150 (GRCh38)
12:57910933 (GRCh37)
Canonical SPDI:: NC_000012.12:57517149:G:A,NC_000012.12:57517149:G:T
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57517150G>A, NC_000012.12:g.57517150G>T, NC_000012.11:g.57910933G>A, NC_000012.11:g.57910933G>T, NG_034077.1:g.34198G>A, NG_034077.1:g.34198G>T, NG_027674.1:g.8368C>T, NG_027674.1:g.8368C>A, NM_004083.6:c.169C>T, NM_004083.6:c.169C>A, NM_004083.5:c.169C>T, NM_004083.5:c.169C>A, NM_001195056.1:c.238C>T, NM_001195056.1:c.238C>A, NM_001195053.1:c.238C>T, NM_001195053.1:c.238C>A, NM_001195054.1:c.238C>T, NM_001195054.1:c.238C>A, NM_001195055.1:c.238C>T, NM_001195055.1:c.238C>A, NM_001195057.1:c.169C>T, NM_001195057.1:c.169C>A, XM_047428446.1:c.286C>T, XM_047428446.1:c.286C>A, NP_004074.2:p.Pro57Ser, NP_004074.2:p.Pro57Thr, NP_001181985.1:p.Pro80Ser, NP_001181985.1:p.Pro80Thr, NP_001181982.1:p.Pro80Ser, NP_001181982.1:p.Pro80Thr, NP_001181983.1:p.Pro80Ser, NP_001181983.1:p.Pro80Thr, NP_001181984.1:p.Pro80Ser, NP_001181984.1:p.Pro80Thr, NP_001181986.1:p.Pro57Ser, NP_001181986.1:p.Pro57Thr, XP_047284402.1:p.Pro96Ser, XP_047284402.1:p.Pro96Thr

Select item 14896597442.

rs1489659744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57517026 (GRCh38)
12:57910809 (GRCh37)
Canonical SPDI:: NC_000012.12:57517025:T:C
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57517026T>C, NC_000012.11:g.57910809T>C, NG_034077.1:g.34074T>C, NG_027674.1:g.8492A>G, NM_004083.6:c.293A>G, NM_004083.5:c.293A>G, NM_001195056.1:c.362A>G, NM_001195053.1:c.362A>G, NM_001195054.1:c.362A>G, NM_001195055.1:c.362A>G, NM_001195057.1:c.293A>G, XM_047428446.1:c.410A>G, NP_004074.2:p.Asp98Gly, NP_001181985.1:p.Asp121Gly, NP_001181982.1:p.Asp121Gly, NP_001181983.1:p.Asp121Gly, NP_001181984.1:p.Asp121Gly, NP_001181986.1:p.Asp98Gly, XP_047284402.1:p.Asp137Gly

Select item 14876858703.

rs1487685870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57516838 (GRCh38)
12:57910621 (GRCh37)
Canonical SPDI:: NC_000012.12:57516837:C:G
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57516838C>G, NC_000012.11:g.57910621C>G, NG_034077.1:g.33886C>G, NG_027674.1:g.8680G>C, NM_004083.6:c.481G>C, NM_004083.5:c.481G>C, NM_001195056.1:c.550G>C, NM_001195053.1:c.550G>C, NM_001195054.1:c.550G>C, NM_001195055.1:c.550G>C, NM_001195057.1:c.481G>C, XM_047428446.1:c.598G>C, NP_004074.2:p.Asp161His, NP_001181985.1:p.Asp184His, NP_001181982.1:p.Asp184His, NP_001181983.1:p.Asp184His, NP_001181984.1:p.Asp184His, NP_001181986.1:p.Asp161His, XP_047284402.1:p.Asp200His

Select item 14850475284.

rs1485047528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57516590 (GRCh38)
12:57910373 (GRCh37)
Canonical SPDI:: NC_000012.12:57516589:G:T
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57516590G>T, NC_000012.11:g.57910373G>T, NG_034077.1:g.33638G>T, NM_004990.4:c.*9G>T, NM_004990.3:c.*9G>T, NG_027674.1:g.8928C>A, NM_004083.5:c.*219C>A, NM_001195056.1:c.*219C>A, NM_001195053.1:c.*219C>A, NM_001195054.1:c.*219C>A, NM_001195055.1:c.*219C>A, NM_001195057.1:c.*219C>A, XM_047428851.1:c.*9G>T, XM_047428446.1:c.*219C>A

Select item 14823019065.

rs1482301906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57517047 (GRCh38)
12:57910830 (GRCh37)
Canonical SPDI:: NC_000012.12:57517046:G:A
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57517047G>A, NC_000012.11:g.57910830G>A, NG_034077.1:g.34095G>A, NG_027674.1:g.8471C>T, NM_004083.6:c.272C>T, NM_004083.5:c.272C>T, NM_001195056.1:c.341C>T, NM_001195053.1:c.341C>T, NM_001195054.1:c.341C>T, NM_001195055.1:c.341C>T, NM_001195057.1:c.272C>T, XM_047428446.1:c.389C>T, NP_004074.2:p.Ala91Val, NP_001181985.1:p.Ala114Val, NP_001181982.1:p.Ala114Val, NP_001181983.1:p.Ala114Val, NP_001181984.1:p.Ala114Val, NP_001181986.1:p.Ala91Val, XP_047284402.1:p.Ala130Val

Select item 14747774586.

rs1474777458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57517128 (GRCh38)
12:57910911 (GRCh37)
Canonical SPDI:: NC_000012.12:57517127:G:T
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.57517128G>T, NC_000012.11:g.57910911G>T, NG_034077.1:g.34176G>T, NG_027674.1:g.8390C>A, NM_004083.6:c.191C>A, NM_004083.5:c.191C>A, NM_001195056.1:c.260C>A, NM_001195053.1:c.260C>A, NM_001195054.1:c.260C>A, NM_001195055.1:c.260C>A, NM_001195057.1:c.191C>A, XM_047428446.1:c.308C>A, NP_004074.2:p.Thr64Asn, NP_001181985.1:p.Thr87Asn, NP_001181982.1:p.Thr87Asn, NP_001181983.1:p.Thr87Asn, NP_001181984.1:p.Thr87Asn, NP_001181986.1:p.Thr64Asn, XP_047284402.1:p.Thr103Asn

Select item 14741643587.

rs1474164358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:57516997 (GRCh38)
12:57910780 (GRCh37)
Canonical SPDI:: NC_000012.12:57516996:T:G
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57516997T>G, NC_000012.11:g.57910780T>G, NG_034077.1:g.34045T>G, NG_027674.1:g.8521A>C, NM_004083.6:c.322A>C, NM_004083.5:c.322A>C, NM_001195056.1:c.391A>C, NM_001195053.1:c.391A>C, NM_001195054.1:c.391A>C, NM_001195055.1:c.391A>C, NM_001195057.1:c.322A>C, XM_047428446.1:c.439A>C, NP_004074.2:p.Ser108Arg, NP_001181985.1:p.Ser131Arg, NP_001181982.1:p.Ser131Arg, NP_001181983.1:p.Ser131Arg, NP_001181984.1:p.Ser131Arg, NP_001181986.1:p.Ser108Arg, XP_047284402.1:p.Ser147Arg

Select item 14741607858.

rs1474160785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:57520485 (GRCh38)
12:57914268 (GRCh37)
Canonical SPDI:: NC_000012.12:57520484:C:A,NC_000012.12:57520484:C:G
Gene:: DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.57520485C>A, NC_000012.12:g.57520485C>G, NC_000012.11:g.57914268C>A, NC_000012.11:g.57914268C>G, NG_027674.1:g.5033G>T, NG_027674.1:g.5033G>C, NM_004083.6:c.-148G>T, NM_004083.6:c.-148G>C, NM_004083.5:c.-148G>T, NM_004083.5:c.-148G>C, NM_001195056.1:c.-346G>T, NM_001195056.1:c.-346G>C, NM_001195053.1:c.-236G>T, NM_001195053.1:c.-236G>C, NM_001195054.1:c.-183G>T, NM_001195054.1:c.-183G>C, NM_001195055.1:c.-160G>T, NM_001195055.1:c.-160G>C, NM_001195057.1:c.-134G>T, NM_001195057.1:c.-134G>C

Select item 14598252089.

rs1459825208 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: 12:57517129 (GRCh38)
12:57910912 (GRCh37)
Canonical SPDI:: NC_000012.12:57517124:TCAGTCAG:TCAG
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,frameshift_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCAGTCAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57517125TCAG[1], NC_000012.11:g.57910908TCAG[1], NG_034077.1:g.34173TCAG[1], NG_027674.1:g.8386CTGA[1], NM_004083.6:c.191_194del, NM_004083.5:c.191_194del, NM_001195056.1:c.260_263del, NM_001195053.1:c.260_263del, NM_001195054.1:c.260_263del, NM_001195055.1:c.260_263del, NM_001195057.1:c.191_194del, XM_047428446.1:c.308_311del, NP_004074.2:p.Thr64fs, NP_001181985.1:p.Thr87fs, NP_001181982.1:p.Thr87fs, NP_001181983.1:p.Thr87fs, NP_001181984.1:p.Thr87fs, NP_001181986.1:p.Thr64fs, XP_047284402.1:p.Thr103fs

Select item 145820568510.

rs1458205685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:57516728 (GRCh38)
12:57910511 (GRCh37)
Canonical SPDI:: NC_000012.12:57516727:A:C
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_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_000012.12:g.57516728A>C, NC_000012.11:g.57910511A>C, NG_034077.1:g.33776A>C, NG_027674.1:g.8790T>G, NM_004083.6:c.*81T>G, NM_004083.5:c.*81T>G, NM_001195056.1:c.*81T>G, NM_001195053.1:c.*81T>G, NM_001195054.1:c.*81T>G, NM_001195055.1:c.*81T>G, NM_001195057.1:c.*81T>G, XM_047428446.1:c.*81T>G

Select item 145744932511.

rs1457449325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:57516972 (GRCh38)
12:57910755 (GRCh37)
Canonical SPDI:: NC_000012.12:57516971:C:G,NC_000012.12:57516971:C:T
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000049/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.57516972C>G, NC_000012.12:g.57516972C>T, NC_000012.11:g.57910755C>G, NC_000012.11:g.57910755C>T, NG_034077.1:g.34020C>G, NG_034077.1:g.34020C>T, NG_027674.1:g.8546G>C, NG_027674.1:g.8546G>A, NM_004083.6:c.347G>C, NM_004083.6:c.347G>A, NM_004083.5:c.347G>C, NM_004083.5:c.347G>A, NM_001195056.1:c.416G>C, NM_001195056.1:c.416G>A, NM_001195053.1:c.416G>C, NM_001195053.1:c.416G>A, NM_001195054.1:c.416G>C, NM_001195054.1:c.416G>A, NM_001195055.1:c.416G>C, NM_001195055.1:c.416G>A, NM_001195057.1:c.347G>C, NM_001195057.1:c.347G>A, XM_047428446.1:c.464G>C, XM_047428446.1:c.464G>A, NP_004074.2:p.Gly116Ala, NP_004074.2:p.Gly116Glu, NP_001181985.1:p.Gly139Ala, NP_001181985.1:p.Gly139Glu, NP_001181982.1:p.Gly139Ala, NP_001181982.1:p.Gly139Glu, NP_001181983.1:p.Gly139Ala, NP_001181983.1:p.Gly139Glu, NP_001181984.1:p.Gly139Ala, NP_001181984.1:p.Gly139Glu, NP_001181986.1:p.Gly116Ala, NP_001181986.1:p.Gly116Glu, XP_047284402.1:p.Gly155Ala, XP_047284402.1:p.Gly155Glu

Select item 145621317112.

rs1456213171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57520426 (GRCh38)
12:57914209 (GRCh37)
Canonical SPDI:: NC_000012.12:57520425:T:C
Gene:: DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.57520426T>C, NC_000012.11:g.57914209T>C, NG_027674.1:g.5092A>G, NM_004083.6:c.-89A>G, NM_004083.5:c.-89A>G, NM_001195056.1:c.-287A>G, NM_001195053.1:c.-177A>G, NM_001195054.1:c.-124A>G, NM_001195055.1:c.-101A>G, NM_001195057.1:c.-75A>G

Select item 145614540413.

rs1456145404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57517334 (GRCh38)
12:57911117 (GRCh37)
Canonical SPDI:: NC_000012.12:57517333:G:A
Gene:: DDIT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57517334G>A, NC_000012.11:g.57911117G>A, NG_034077.1:g.34382G>A, NG_027674.1:g.8184C>T, NM_004083.6:c.73C>T, NM_004083.5:c.73C>T, NM_001195056.1:c.142C>T, NM_001195053.1:c.142C>T, NM_001195054.1:c.142C>T, NM_001195055.1:c.142C>T, NM_001195057.1:c.73C>T, XM_047428446.1:c.190C>T

Select item 145435381314.

rs1454353813 [Homo sapiens]

Variant type:: DEL
Alleles:: CTGTTTCC>- [Show Flanks]
Chromosome:: 12:57516998 (GRCh38)
12:57910781 (GRCh37)
Canonical SPDI:: NC_000012.12:57516997:CTGTTTCC:
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,frameshift_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57516998_57517005del, NC_000012.11:g.57910781_57910788del, NG_034077.1:g.34046_34053del, NG_027674.1:g.8513_8520del, NM_004083.6:c.314_321del, NM_004083.5:c.314_321del, NM_001195056.1:c.383_390del, NM_001195053.1:c.383_390del, NM_001195054.1:c.383_390del, NM_001195055.1:c.383_390del, NM_001195057.1:c.314_321del, XM_047428446.1:c.431_438del, NP_004074.2:p.Arg105fs, NP_001181985.1:p.Arg128fs, NP_001181982.1:p.Arg128fs, NP_001181983.1:p.Arg128fs, NP_001181984.1:p.Arg128fs, NP_001181986.1:p.Arg105fs, XP_047284402.1:p.Arg144fs

Select item 145132151015.

rs1451321510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57520478 (GRCh38)
12:57914261 (GRCh37)
Canonical SPDI:: NC_000012.12:57520477:C:T
Gene:: DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57520478C>T, NC_000012.11:g.57914261C>T, NG_027674.1:g.5040G>A, NM_004083.6:c.-141G>A, NM_004083.5:c.-141G>A, NM_001195056.1:c.-339G>A, NM_001195053.1:c.-229G>A, NM_001195054.1:c.-176G>A, NM_001195055.1:c.-153G>A, NM_001195057.1:c.-127G>A

Select item 144641634516.

rs1446416345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:57520491 (GRCh38)
12:57914274 (GRCh37)
Canonical SPDI:: NC_000012.12:57520490:G:A,NC_000012.12:57520490:G:C
Gene:: DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.57520491G>A, NC_000012.12:g.57520491G>C, NC_000012.11:g.57914274G>A, NC_000012.11:g.57914274G>C, NG_027674.1:g.5027C>T, NG_027674.1:g.5027C>G, NM_004083.6:c.-154C>T, NM_004083.6:c.-154C>G, NM_004083.5:c.-154C>T, NM_004083.5:c.-154C>G, NM_001195056.1:c.-352C>T, NM_001195056.1:c.-352C>G, NM_001195053.1:c.-242C>T, NM_001195053.1:c.-242C>G, NM_001195054.1:c.-189C>T, NM_001195054.1:c.-189C>G, NM_001195055.1:c.-166C>T, NM_001195055.1:c.-166C>G, NM_001195057.1:c.-140C>T, NM_001195057.1:c.-140C>G

Select item 144613087617.

rs1446130876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:57516999 (GRCh38)
12:57910782 (GRCh37)
Canonical SPDI:: NC_000012.12:57516998:T:G
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57516999T>G, NC_000012.11:g.57910782T>G, NG_034077.1:g.34047T>G, NG_027674.1:g.8519A>C, NM_004083.6:c.320A>C, NM_004083.5:c.320A>C, NM_001195056.1:c.389A>C, NM_001195053.1:c.389A>C, NM_001195054.1:c.389A>C, NM_001195055.1:c.389A>C, NM_001195057.1:c.320A>C, XM_047428446.1:c.437A>C, NP_004074.2:p.Gln107Pro, NP_001181985.1:p.Gln130Pro, NP_001181982.1:p.Gln130Pro, NP_001181983.1:p.Gln130Pro, NP_001181984.1:p.Gln130Pro, NP_001181986.1:p.Gln107Pro, XP_047284402.1:p.Gln146Pro

Select item 144384824718.

rs1443848247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:57516880 (GRCh38)
12:57910663 (GRCh37)
Canonical SPDI:: NC_000012.12:57516879:G:A,NC_000012.12:57516879:G:T
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57516880G>A, NC_000012.12:g.57516880G>T, NC_000012.11:g.57910663G>A, NC_000012.11:g.57910663G>T, NG_034077.1:g.33928G>A, NG_034077.1:g.33928G>T, NG_027674.1:g.8638C>T, NG_027674.1:g.8638C>A, NM_004083.6:c.439C>T, NM_004083.6:c.439C>A, NM_004083.5:c.439C>T, NM_004083.5:c.439C>A, NM_001195056.1:c.508C>T, NM_001195056.1:c.508C>A, NM_001195053.1:c.508C>T, NM_001195053.1:c.508C>A, NM_001195054.1:c.508C>T, NM_001195054.1:c.508C>A, NM_001195055.1:c.508C>T, NM_001195055.1:c.508C>A, NM_001195057.1:c.439C>T, NM_001195057.1:c.439C>A, XM_047428446.1:c.556C>T, XM_047428446.1:c.556C>A, NP_004074.2:p.Arg147Cys, NP_004074.2:p.Arg147Ser, NP_001181985.1:p.Arg170Cys, NP_001181985.1:p.Arg170Ser, NP_001181982.1:p.Arg170Cys, NP_001181982.1:p.Arg170Ser, NP_001181983.1:p.Arg170Cys, NP_001181983.1:p.Arg170Ser, NP_001181984.1:p.Arg170Cys, NP_001181984.1:p.Arg170Ser, NP_001181986.1:p.Arg147Cys, NP_001181986.1:p.Arg147Ser, XP_047284402.1:p.Arg186Cys, XP_047284402.1:p.Arg186Ser

Select item 144205588219.

rs1442055882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57517747 (GRCh38)
12:57911530 (GRCh37)
Canonical SPDI:: NC_000012.12:57517746:T:C
Gene:: DDIT3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57517747T>C, NC_000012.11:g.57911530T>C, NG_034077.1:g.34795T>C, NG_027674.1:g.7771A>G, NM_004083.6:c.-74A>G, NM_004083.5:c.-74A>G, NM_001195056.1:c.-272A>G, NM_001195053.1:c.-162A>G, NM_001195054.1:c.-109A>G, NM_001195055.1:c.-86A>G, NM_001195057.1:c.-60A>G, XM_047428446.1:c.44A>G, XP_047284402.1:p.Lys15Arg

Select item 144006459320.

rs1440064593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCTTCCC [Show Flanks]
Chromosome:: 12:57516684 (GRCh38)
12:57910468 (GRCh37)
Canonical SPDI:: NC_000012.12:57516684:GCCTTCCC:GCCTTCCCGCCTTCCC
Gene:: DDIT3 (Varview), MARS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCTTCCCGCCTTCCC=0./0 (ALFA)
GCCTTCCC=0.000021/3 (GnomAD)
GCCTTCCC=0.000049/13 (TOPMED)
HGVS:: NC_000012.12:g.57516685_57516692dup, NC_000012.11:g.57910468_57910475dup, NG_034077.1:g.33733_33740dup, NG_027674.1:g.8826_8833dup, NM_004083.6:c.*117_*124dup, NM_004083.5:c.*117_*124dup, NM_001195056.1:c.*117_*124dup, NM_001195053.1:c.*117_*124dup, NM_001195054.1:c.*117_*124dup, NM_001195055.1:c.*117_*124dup, NM_001195057.1:c.*117_*124dup, XM_047428446.1:c.*117_*124dup

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