SNP Links for Nucleotide (Select 422010900) - SNP

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Links from Nucleotide

Items: 1 to 20 of 574

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Select item 14897718821.

rs1489771882 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:163519167 (GRCh38)
5:162946173 (GRCh37)
Canonical SPDI:: NC_000005.10:163519166:T:
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163519167del, NC_000005.9:g.162946173del, NM_013283.5:c.*804del, NM_013283.4:c.*804del, NM_182796.2:c.*804del

Select item 14866465572.

rs1486646557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:163516564 (GRCh38)
5:162943570 (GRCh37)
Canonical SPDI:: NC_000005.10:163516563:G:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.163516564G>T, NC_000005.9:g.162943570G>T, NM_013283.5:c.573G>T, NM_013283.4:c.573G>T, NM_182796.2:c.540G>T, NP_037415.1:p.Lys191Asn, NP_877725.1:p.Lys180Asn

Select item 14862059593.

rs1486205959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:163518677 (GRCh38)
5:162945683 (GRCh37)
Canonical SPDI:: NC_000005.10:163518676:T:C
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.163518677T>C, NC_000005.9:g.162945683T>C, NM_013283.5:c.*314T>C, NM_013283.4:c.*314T>C, NM_182796.2:c.*314T>C

Select item 14858643554.

rs1485864355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:163519032 (GRCh38)
5:162946038 (GRCh37)
Canonical SPDI:: NC_000005.10:163519031:T:C
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.163519032T>C, NC_000005.9:g.162946038T>C, NM_013283.5:c.*669T>C, NM_013283.4:c.*669T>C, NM_182796.2:c.*669T>C

Select item 14849242495.

rs1484924249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163512021 (GRCh38)
5:162939027 (GRCh37)
Canonical SPDI:: NC_000005.10:163512020:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.163512021A>G, NC_000005.9:g.162939027A>G, NM_013283.5:c.83A>G, NM_013283.4:c.83A>G, NM_182796.2:c.50A>G, NP_037415.1:p.Asn28Ser, NP_877725.1:p.Asn17Ser

Select item 14847088816.

rs1484708881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163519003 (GRCh38)
5:162946009 (GRCh37)
Canonical SPDI:: NC_000005.10:163519002:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.163519003A>T, NC_000005.9:g.162946009A>T, NM_013283.5:c.*640A>T, NM_013283.4:c.*640A>T, NM_182796.2:c.*640A>T

Select item 14840629257.

rs1484062925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163518283 (GRCh38)
5:162945289 (GRCh37)
Canonical SPDI:: NC_000005.10:163518282:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163518283A>T, NC_000005.9:g.162945289A>T, NM_013283.5:c.925A>T, NM_013283.4:c.925A>T, NM_182796.2:c.892A>T, NP_037415.1:p.Thr309Ser, NP_877725.1:p.Thr298Ser

Select item 14828649288.

rs1482864928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163503101 (GRCh38)
5:162930107 (GRCh37)
Canonical SPDI:: NC_000005.10:163503100:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.163503101A>G, NC_000005.9:g.162930107A>G, NM_182796.2:c.-294A>G

Select item 14827405539.

rs1482740553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:163516539 (GRCh38)
5:162943545 (GRCh37)
Canonical SPDI:: NC_000005.10:163516538:C:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163516539C>T, NC_000005.9:g.162943545C>T, NM_013283.5:c.548C>T, NM_013283.4:c.548C>T, NM_182796.2:c.515C>T, NP_037415.1:p.Pro183Leu, NP_877725.1:p.Pro172Leu

Select item 148200020310.

rs1482000203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163517620 (GRCh38)
5:162944626 (GRCh37)
Canonical SPDI:: NC_000005.10:163517619:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163517620A>T, NC_000005.9:g.162944626A>T, NM_013283.5:c.780A>T, NM_013283.4:c.780A>T, NM_182796.2:c.747A>T, NP_037415.1:p.Glu260Asp, NP_877725.1:p.Glu249Asp

Select item 148096619411.

rs1480966194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:163503209 (GRCh38)
5:162930215 (GRCh37)
Canonical SPDI:: NC_000005.10:163503208:A:C,NC_000005.10:163503208:A:G,NC_000005.10:163503208:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.163503209A>C, NC_000005.10:g.163503209A>G, NC_000005.10:g.163503209A>T, NC_000005.9:g.162930215A>C, NC_000005.9:g.162930215A>G, NC_000005.9:g.162930215A>T, NM_182796.2:c.-186A>C, NM_182796.2:c.-186A>G, NM_182796.2:c.-186A>T

Select item 147980637612.

rs1479806376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163519240 (GRCh38)
5:162946246 (GRCh37)
Canonical SPDI:: NC_000005.10:163519239:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.163519240A>T, NC_000005.9:g.162946246A>T, NM_013283.5:c.*877A>T, NM_013283.4:c.*877A>T, NM_182796.2:c.*877A>T

Select item 147458933713.

rs1474589337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:163512121 (GRCh38)
5:162939127 (GRCh37)
Canonical SPDI:: NC_000005.10:163512120:A:G,NC_000005.10:163512120:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.163512121A>G, NC_000005.10:g.163512121A>T, NC_000005.9:g.162939127A>G, NC_000005.9:g.162939127A>T, NM_013283.5:c.183A>G, NM_013283.5:c.183A>T, NM_013283.4:c.183A>G, NM_013283.4:c.183A>T, NM_182796.2:c.150A>G, NM_182796.2:c.150A>T, NP_037415.1:p.Arg61Ser, NP_877725.1:p.Arg50Ser

Select item 147454818214.

rs1474548182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163503379 (GRCh38)
5:162930385 (GRCh37)
Canonical SPDI:: NC_000005.10:163503378:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163503379A>G, NC_000005.9:g.162930385A>G, NM_182796.2:c.-16A>G

Select item 147237028815.

rs1472370288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:163516663 (GRCh38)
5:162943669 (GRCh37)
Canonical SPDI:: NC_000005.10:163516662:C:G
Gene:: MAT2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163516663C>G, NC_000005.9:g.162943669C>G, NM_013283.5:c.672C>G, NM_013283.4:c.672C>G, NM_182796.2:c.639C>G

Select item 147136367416.

rs1471363674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163513950 (GRCh38)
5:162940956 (GRCh37)
Canonical SPDI:: NC_000005.10:163513949:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.163513950A>G, NC_000005.9:g.162940956A>G, NM_013283.5:c.482A>G, NM_013283.4:c.482A>G, NM_182796.2:c.449A>G, NP_037415.1:p.Lys161Arg, NP_877725.1:p.Lys150Arg

Select item 146951396717.

rs1469513967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:163518796 (GRCh38)
5:162945802 (GRCh37)
Canonical SPDI:: NC_000005.10:163518795:C:T
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.163518796C>T, NC_000005.9:g.162945802C>T, NM_013283.5:c.*433C>T, NM_013283.4:c.*433C>T, NM_182796.2:c.*433C>T

Select item 146838804018.

rs1468388040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:163518890 (GRCh38)
5:162945896 (GRCh37)
Canonical SPDI:: NC_000005.10:163518889:T:C,NC_000005.10:163518889:T:G
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163518890T>C, NC_000005.10:g.163518890T>G, NC_000005.9:g.162945896T>C, NC_000005.9:g.162945896T>G, NM_013283.5:c.*527T>C, NM_013283.5:c.*527T>G, NM_013283.4:c.*527T>C, NM_013283.4:c.*527T>G, NM_182796.2:c.*527T>C, NM_182796.2:c.*527T>G

Select item 146586394919.

rs1465863949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163518396 (GRCh38)
5:162945402 (GRCh37)
Canonical SPDI:: NC_000005.10:163518395:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0007/3 (ALFA)
T=0.0007/3 (Estonian)
HGVS:: NC_000005.10:g.163518396A>T, NC_000005.9:g.162945402A>T, NM_013283.5:c.*33A>T, NM_013283.4:c.*33A>T, NM_182796.2:c.*33A>T

Select item 146505221020.

rs1465052210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:163513606 (GRCh38)
5:162940612 (GRCh37)
Canonical SPDI:: NC_000005.10:163513605:A:C
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.163513606A>C, NC_000005.9:g.162940612A>C, NM_013283.5:c.310A>C, NM_013283.4:c.310A>C, NM_182796.2:c.277A>C, NP_037415.1:p.Asn104His, NP_877725.1:p.Asn93His

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