SNP Links for Nucleotide (Select 1176461399) - SNP

Links from Nucleotide

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Select item 14908791521.

rs1490879152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:60976050 (GRCh38)
14:61442768 (GRCh37)
Canonical SPDI:: NC_000014.9:60976049:C:A,NC_000014.9:60976049:C:T
Gene:: TRMT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60976050C>A, NC_000014.9:g.60976050C>T, NC_000014.8:g.61442768C>A, NC_000014.8:g.61442768C>T, NG_053119.1:g.10641G>T, NG_053119.1:g.10641G>A, NM_020810.3:c.869G>T, NM_020810.3:c.869G>A, NM_020810.2:c.869G>T, NM_020810.2:c.869G>A, NM_001350253.1:c.953G>T, NM_001350253.1:c.953G>A, NM_001350254.1:c.950G>T, NM_001350254.1:c.950G>A, NP_065861.3:p.Ser290Ile, NP_065861.3:p.Ser290Asn, NP_001337182.1:p.Ser318Ile, NP_001337182.1:p.Ser318Asn, NP_001337183.1:p.Ser317Ile, NP_001337183.1:p.Ser317Asn

Select item 14908077632.

rs1490807763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:60975095 (GRCh38)
14:61441813 (GRCh37)
Canonical SPDI:: NC_000014.9:60975094:G:A
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60975095G>A, NC_000014.8:g.61441813G>A, NG_053119.1:g.11596C>T, NM_020810.3:c.*14C>T, NM_020810.2:c.*14C>T, NM_001350253.1:c.*14C>T, NM_001350254.1:c.*14C>T

Select item 14899915363.

rs1489991536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60975675 (GRCh38)
14:61442393 (GRCh37)
Canonical SPDI:: NC_000014.9:60975674:A:G
Gene:: TRMT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60975675A>G, NC_000014.8:g.61442393A>G, NG_053119.1:g.11016T>C, NM_020810.3:c.1244T>C, NM_020810.2:c.1244T>C, NM_001350253.1:c.1328T>C, NM_001350254.1:c.1325T>C, NP_065861.3:p.Ile415Thr, NP_001337182.1:p.Ile443Thr, NP_001337183.1:p.Ile442Thr

Select item 14894032814.

rs1489403281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60972829 (GRCh38)
14:61439547 (GRCh37)
Canonical SPDI:: NC_000014.9:60972828:A:G
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.60972829A>G, NC_000014.8:g.61439547A>G, NG_053119.1:g.13862T>C, NM_020810.3:c.*2280T>C, NM_020810.2:c.*2280T>C, NM_001350253.1:c.*2280T>C, NM_001350254.1:c.*2280T>C

Select item 14893730845.

rs1489373084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:60971767 (GRCh38)
14:61438485 (GRCh37)
Canonical SPDI:: NC_000014.9:60971766:C:G
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.60971767C>G, NC_000014.8:g.61438485C>G, NG_053119.1:g.14924G>C, NM_020810.3:c.*3342G>C, NM_020810.2:c.*3342G>C, NM_001350253.1:c.*3342G>C, NM_001350254.1:c.*3342G>C

Select item 14885681766.

rs1488568176 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:60979288 (GRCh38)
14:61446007 (GRCh37)
Canonical SPDI:: NC_000014.9:60979288:AA:AAA
Gene:: TRMT5 (Varview), SLC38A6 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.60979290dup, NC_000014.8:g.61446008dup, NG_053119.1:g.7402dup, NM_020810.3:c.609dup, NM_020810.2:c.609dup, NM_001350253.1:c.693dup, NM_001350254.1:c.690dup, NP_065861.3:p.Gly204fs, NP_001337182.1:p.Gly232fs, NP_001337183.1:p.Gly231fs

Select item 14880029697.

rs1488002969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60981321 (GRCh38)
14:61448039 (GRCh37)
Canonical SPDI:: NC_000014.9:60981320:A:G
Gene:: TRMT5 (Varview), SLC38A6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60981321A>G, NC_000014.8:g.61448039A>G, NG_053119.1:g.5370T>C, NM_001350253.1:c.-203T>C, NM_153811.3:c.44A>G, NM_153811.2:c.44A>G, XM_011536469.3:c.44A>G, XM_011536469.2:c.44A>G, XM_011536469.1:c.44A>G, NR_033344.2:n.77A>G, NR_033344.1:n.75A>G, XM_017021022.2:c.-335A>G, XM_017021022.1:c.-335A>G, NM_001172702.2:c.44A>G, NM_001172702.1:c.44A>G, XM_017021020.2:c.44A>G, XM_017021020.1:c.44A>G, XM_017021021.2:c.44A>G, XM_017021021.1:c.44A>G, XM_017021023.2:c.44A>G, XM_017021023.1:c.44A>G, XR_001750164.2:n.77A>G, XR_001750164.1:n.160A>G, XM_047431002.1:c.44A>G, XM_047431005.1:c.-335A>G, XM_047431006.1:c.-335A>G, XR_007063987.1:n.77A>G, XR_007063988.1:n.77A>G, XM_047431001.1:c.44A>G, XM_047431004.1:c.44A>G, XM_047431003.1:c.44A>G, XM_047431009.1:c.44A>G, XM_047431010.1:c.44A>G, XM_047431008.1:c.44A>G, NP_722518.2:p.Tyr15Cys, XP_011534771.1:p.Tyr15Cys, NP_001166173.1:p.Tyr15Cys, XP_016876509.1:p.Tyr15Cys, XP_016876510.1:p.Tyr15Cys, XP_016876512.1:p.Tyr15Cys, XP_047286958.1:p.Tyr15Cys, XP_047286957.1:p.Tyr15Cys, XP_047286960.1:p.Tyr15Cys, XP_047286959.1:p.Tyr15Cys, XP_047286965.1:p.Tyr15Cys, XP_047286966.1:p.Tyr15Cys, XP_047286964.1:p.Tyr15Cys

Select item 14871129378.

rs1487112937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:60973419 (GRCh38)
14:61440137 (GRCh37)
Canonical SPDI:: NC_000014.9:60973418:C:T
Gene:: TRMT5 (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=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.60973419C>T, NC_000014.8:g.61440137C>T, NG_053119.1:g.13272G>A, NM_020810.3:c.*1690G>A, NM_020810.2:c.*1690G>A, NM_001350253.1:c.*1690G>A, NM_001350254.1:c.*1690G>A

Select item 14864509809.

rs1486450980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:60974372 (GRCh38)
14:61441090 (GRCh37)
Canonical SPDI:: NC_000014.9:60974371:G:A
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.60974372G>A, NC_000014.8:g.61441090G>A, NG_053119.1:g.12319C>T, NM_020810.3:c.*737C>T, NM_020810.2:c.*737C>T, NM_001350253.1:c.*737C>T, NM_001350254.1:c.*737C>T, NG_043910.1:g.146G>A

Select item 148609633910.

rs1486096339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:60972678 (GRCh38)
14:61439396 (GRCh37)
Canonical SPDI:: NC_000014.9:60972677:C:T
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60972678C>T, NC_000014.8:g.61439396C>T, NG_053119.1:g.14013G>A, NM_020810.3:c.*2431G>A, NM_020810.2:c.*2431G>A, NM_001350253.1:c.*2431G>A, NM_001350254.1:c.*2431G>A

Select item 148584700611.

rs1485847006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:60975602 (GRCh38)
14:61442320 (GRCh37)
Canonical SPDI:: NC_000014.9:60975601:T:G
Gene:: TRMT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60975602T>G, NC_000014.8:g.61442320T>G, NG_053119.1:g.11089A>C, NM_020810.3:c.1317A>C, NM_020810.2:c.1317A>C, NM_001350253.1:c.1401A>C, NM_001350254.1:c.1398A>C, NP_065861.3:p.Leu439Phe, NP_001337182.1:p.Leu467Phe, NP_001337183.1:p.Leu466Phe

Select item 148547231812.

rs1485472318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 14:60974860 (GRCh38)
14:61441578 (GRCh37)
Canonical SPDI:: NC_000014.9:60974857:TTATT:TT
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.60974860_60974862del, NC_000014.8:g.61441578_61441580del, NG_053119.1:g.11831_11833del, NM_020810.3:c.*249_*251del, NM_020810.2:c.*249_*251del, NM_001350253.1:c.*249_*251del, NM_001350254.1:c.*249_*251del

Select item 148544386213.

rs1485443862 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148539333514.

rs1485393335 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 14:60974930 (GRCh38)
14:61441648 (GRCh37)
Canonical SPDI:: NC_000014.9:60974929:AG:
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000427/6 (ALFA)
-=0.000136/36 (TOPMED)
-=0.00015/21 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000014.9:g.60974930_60974931del, NC_000014.8:g.61441648_61441649del, NG_053119.1:g.11760_11761del, NM_020810.3:c.*178_*179del, NM_020810.2:c.*178_*179del, NM_001350253.1:c.*178_*179del, NM_001350254.1:c.*178_*179del

Select item 148433398915.

rs1484333989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:60977621 (GRCh38)
14:61444339 (GRCh37)
Canonical SPDI:: NC_000014.9:60977620:T:C
Gene:: TRMT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60977621T>C, NC_000014.8:g.61444339T>C, NG_053119.1:g.9070A>G, NM_020810.3:c.685A>G, NM_020810.2:c.685A>G, NM_001350253.1:c.769A>G, NM_001350254.1:c.766A>G, NP_065861.3:p.Lys229Glu, NP_001337182.1:p.Lys257Glu, NP_001337183.1:p.Lys256Glu

Select item 148399960016.

rs1483999600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:60974275 (GRCh38)
14:61440993 (GRCh37)
Canonical SPDI:: NC_000014.9:60974274:C:T
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.60974275C>T, NC_000014.8:g.61440993C>T, NG_053119.1:g.12416G>A, NM_020810.3:c.*834G>A, NM_020810.2:c.*834G>A, NM_001350253.1:c.*834G>A, NM_001350254.1:c.*834G>A, NG_043910.1:g.49C>T

Select item 148285889017.

rs1482858890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:60981640 (GRCh38)
14:61448358 (GRCh37)
Canonical SPDI:: NC_000014.9:60981639:C:A,NC_000014.9:60981639:C:T
Gene:: TRMT5 (Varview), SLC38A6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60981640C>A, NC_000014.9:g.60981640C>T, NC_000014.8:g.61448358C>A, NC_000014.8:g.61448358C>T, NG_053119.1:g.5051G>T, NG_053119.1:g.5051G>A, NM_001350253.1:c.-522G>T, NM_001350253.1:c.-522G>A, NR_033344.2:n.396C>A, NR_033344.2:n.396C>T, NR_033344.1:n.394C>A, NR_033344.1:n.394C>T, XM_017021022.2:c.-16C>A, XM_017021022.2:c.-16C>T, XM_017021022.1:c.-16C>A, XM_017021022.1:c.-16C>T, XM_017021025.2:c.-105C>A, XM_017021025.2:c.-105C>T, XM_017021025.1:c.-105C>A, XM_017021025.1:c.-105C>T, XM_047431005.1:c.-16C>A, XM_047431005.1:c.-16C>T, XM_047431006.1:c.-16C>A, XM_047431006.1:c.-16C>T

Select item 148137610018.

rs1481376100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:60979502 (GRCh38)
14:61446220 (GRCh37)
Canonical SPDI:: NC_000014.9:60979501:A:C
Gene:: TRMT5 (Varview), SLC38A6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.60979502A>C, NC_000014.8:g.61446220A>C, NG_053119.1:g.7189T>G, NM_020810.3:c.396T>G, NM_020810.2:c.396T>G, NM_001350253.1:c.480T>G, NM_001350254.1:c.477T>G, NP_065861.3:p.Asp132Glu, NP_001337182.1:p.Asp160Glu, NP_001337183.1:p.Asp159Glu

Select item 148034235719.

rs1480342357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:60972779 (GRCh38)
14:61439497 (GRCh37)
Canonical SPDI:: NC_000014.9:60972778:C:T
Gene:: TRMT5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.60972779C>T, NC_000014.8:g.61439497C>T, NG_053119.1:g.13912G>A, NM_020810.3:c.*2330G>A, NM_020810.2:c.*2330G>A, NM_001350253.1:c.*2330G>A, NM_001350254.1:c.*2330G>A

Select item 147975239820.

rs1479752398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:60975612 (GRCh38)
14:61442330 (GRCh37)
Canonical SPDI:: NC_000014.9:60975611:C:G
Gene:: TRMT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60975612C>G, NC_000014.8:g.61442330C>G, NG_053119.1:g.11079G>C, NM_020810.3:c.1307G>C, NM_020810.2:c.1307G>C, NM_001350253.1:c.1391G>C, NM_001350254.1:c.1388G>C, NP_065861.3:p.Gly436Ala, NP_001337182.1:p.Gly464Ala, NP_001337183.1:p.Gly463Ala

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