TRMT1 - SNP

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Select item 352061211.

rs35206121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13107648 (GRCh38)
19:13218462 (GRCh37)
Canonical SPDI:: NC_000019.10:13107647:C:G,NC_000019.10:13107647:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002244/155 (ALFA)
T=0.000259/1 (ALSPAC)
T=0.001/13 (GoESP)
T=0.001002/1 (GoNL)
T=0.001079/4 (TWINSUK)
T=0.001262/334 (TOPMED)
T=0.002017/283 (GnomAD)
T=0.002186/11 (1000Genomes)
T=0.004436/300 (ExAC)
T=0.004673/1 (Vietnamese)
T=0.007246/2 (FINRISK)
T=0.008333/5 (NorthernSweden)
T=0.010268/46 (Estonian)
T=0.011978/35 (KOREAN)
T=0.012555/23 (Korea1K)
T=0.019994/335 (TOMMO)
C=0.5/1 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000019.10:g.13107648C>G, NC_000019.10:g.13107648C>T, NC_000019.9:g.13218462C>G, NC_000019.9:g.13218462C>T, NG_027756.2:g.513G>C, NG_027756.2:g.513G>A, NG_054900.1:g.14920G>C, NG_054900.1:g.14920G>A, NM_017722.5:c.1509G>C, NM_017722.5:c.1509G>A, NM_017722.4:c.1509G>C, NM_017722.4:c.1509G>A, NM_017722.3:c.1509G>C, NM_017722.3:c.1509G>A, NM_001136035.4:c.1509G>C, NM_001136035.4:c.1509G>A, NM_001136035.3:c.1509G>C, NM_001136035.3:c.1509G>A, NM_001136035.2:c.1509G>C, NM_001136035.2:c.1509G>A, NM_001142554.3:c.1422G>C, NM_001142554.3:c.1422G>A, NM_001142554.2:c.1422G>C, NM_001142554.2:c.1422G>A, NM_001142554.1:c.1422G>C, NM_001142554.1:c.1422G>A, NM_001351762.2:c.726G>C, NM_001351762.2:c.726G>A, NM_001351762.1:c.726G>C, NM_001351762.1:c.726G>A, NM_001351760.2:c.1422G>C, NM_001351760.2:c.1422G>A, NM_001351760.1:c.1422G>C, NM_001351760.1:c.1422G>A, NM_001351761.2:c.1401G>C, NM_001351761.2:c.1401G>A, NM_001351761.1:c.1401G>C, NM_001351761.1:c.1401G>A, NP_060192.1:p.Glu503Asp, NP_001129507.1:p.Glu503Asp, NP_001136026.1:p.Glu474Asp, NP_001338691.1:p.Glu242Asp, NP_001338689.1:p.Glu474Asp, NP_001338690.1:p.Glu467Asp

Select item 356017372.

rs35601737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:13109889 (GRCh38)
19:13220703 (GRCh37)
Canonical SPDI:: NC_000019.10:13109888:C:A,NC_000019.10:13109888:C:G,NC_000019.10:13109888:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000685/2 (KOREAN)
G=0.118364/593 (1000Genomes)
G=0.166667/36 (Qatari)
G=0.21096/55839 (TOPMED)
G=0.239966/3121 (GoESP)
G=0.277238/1028 (TWINSUK)
G=0.289474/88 (FINRISK)
G=0.290262/155 (MGP)
G=0.295591/295 (GoNL)
G=0.295982/1326 (Estonian)
G=0.296667/178 (NorthernSweden)
G=0.305397/1177 (ALSPAC)
G=0.35/14 (GENOME_DK)
C=0.416667/5 (Siberian)
C=0.462264/49 (SGDP_PRJ)
G=0.483871/30 (PRJEB36033)
HGVS:: NC_000019.10:g.13109889C>A, NC_000019.10:g.13109889C>G, NC_000019.10:g.13109889C>T, NC_000019.9:g.13220703C>A, NC_000019.9:g.13220703C>G, NC_000019.9:g.13220703C>T, NG_054900.1:g.12679G>T, NG_054900.1:g.12679G>C, NG_054900.1:g.12679G>A

Select item 775602753.

rs77560275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13109692 (GRCh38)
19:13220506 (GRCh37)
Canonical SPDI:: NC_000019.10:13109691:C:G,NC_000019.10:13109691:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/9 (ALFA)
T=0.000071/2 (TOMMO)
T=0.001142/138 (ExAC)
T=0.004372/22 (1000Genomes)
T=0.004459/58 (GoESP)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.13109692C>G, NC_000019.10:g.13109692C>T, NC_000019.9:g.13220506C>G, NC_000019.9:g.13220506C>T, NG_054900.1:g.12876G>C, NG_054900.1:g.12876G>A

Select item 1145429794.

rs114542979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:13107642 (GRCh38)
19:13218456 (GRCh37)
Canonical SPDI:: NC_000019.10:13107641:T:A
Gene:: TRMT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000188/19 (ALFA)
A=0.000261/62 (GnomAD_exomes)
A=0.000398/28 (ExAC)
A=0.001249/6 (1000Genomes)
A=0.001307/17 (GoESP)
A=0.001307/346 (TOPMED)
A=0.00134/188 (GnomAD)
A=0.001873/1 (MGP)
A=0.002198/173 (PAGE_STUDY)
HGVS:: NC_000019.10:g.13107642T>A, NC_000019.9:g.13218456T>A, NG_027756.2:g.519A>T, NG_054900.1:g.14926A>T, NM_017722.5:c.1515A>T, NM_017722.4:c.1515A>T, NM_017722.3:c.1515A>T, NM_001136035.4:c.1515A>T, NM_001136035.3:c.1515A>T, NM_001136035.2:c.1515A>T, NM_001142554.3:c.1428A>T, NM_001142554.2:c.1428A>T, NM_001142554.1:c.1428A>T, NM_001351762.2:c.732A>T, NM_001351762.1:c.732A>T, NM_001351760.2:c.1428A>T, NM_001351760.1:c.1428A>T, NM_001351761.2:c.1407A>T, NM_001351761.1:c.1407A>T, NP_060192.1:p.Glu505Asp, NP_001129507.1:p.Glu505Asp, NP_001136026.1:p.Glu476Asp, NP_001338691.1:p.Glu244Asp, NP_001338689.1:p.Glu476Asp, NP_001338690.1:p.Glu469Asp

Select item 1177413795.

rs117741379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13109935 (GRCh38)
19:13220749 (GRCh37)
Canonical SPDI:: NC_000019.10:13109934:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.009226/457 (ALFA)
T=0.001873/1 (MGP)
T=0.002811/14 (1000Genomes)
T=0.003333/2 (NorthernSweden)
T=0.006104/739 (ExAC)
T=0.006213/1560 (GnomAD_exomes)
T=0.006241/1652 (TOPMED)
T=0.006539/917 (GnomAD)
T=0.007766/101 (GoESP)
T=0.009081/35 (ALSPAC)
T=0.011607/52 (Estonian)
T=0.014563/54 (TWINSUK)
T=0.01503/15 (GoNL)
C=0.5/1 (Siberian)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000019.10:g.13109935C>T, NC_000019.9:g.13220749C>T, NG_054900.1:g.12633G>A, NM_017722.5:c.1086G>A, NM_017722.4:c.1086G>A, NM_017722.3:c.1086G>A, NM_001136035.4:c.1086G>A, NM_001136035.3:c.1086G>A, NM_001136035.2:c.1086G>A, NM_001351762.2:c.303G>A, NM_001351762.1:c.303G>A, NM_001351761.2:c.978G>A, NM_001351761.1:c.978G>A

Select item 1386958936.

rs138695893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13112981 (GRCh38)
19:13223795 (GRCh37)
Canonical SPDI:: NC_000019.10:13112980:C:G,NC_000019.10:13112980:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00016/7 (ALFA)
T=0.00008/1 (GoESP)
T=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.13112981C>G, NC_000019.10:g.13112981C>T, NC_000019.9:g.13223795C>G, NC_000019.9:g.13223795C>T, NG_054900.1:g.9587G>C, NG_054900.1:g.9587G>A, NM_017722.5:c.672G>C, NM_017722.5:c.672G>A, NM_017722.4:c.672G>C, NM_017722.4:c.672G>A, NM_017722.3:c.672G>C, NM_017722.3:c.672G>A, NM_001136035.4:c.672G>C, NM_001136035.4:c.672G>A, NM_001136035.3:c.672G>C, NM_001136035.3:c.672G>A, NM_001136035.2:c.672G>C, NM_001136035.2:c.672G>A, NM_001142554.3:c.672G>C, NM_001142554.3:c.672G>A, NM_001142554.2:c.672G>C, NM_001142554.2:c.672G>A, NM_001142554.1:c.672G>C, NM_001142554.1:c.672G>A, NM_001351762.2:c.-99G>C, NM_001351762.2:c.-99G>A, NM_001351762.1:c.-99G>C, NM_001351762.1:c.-99G>A, NM_001351760.2:c.672G>C, NM_001351760.2:c.672G>A, NM_001351760.1:c.672G>C, NM_001351760.1:c.672G>A, NM_001351761.2:c.564G>C, NM_001351761.2:c.564G>A, NM_001351761.1:c.564G>C, NM_001351761.1:c.564G>A

Select item 1398395457.

rs139839545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13105316 (GRCh38)
19:13216130 (GRCh37)
Canonical SPDI:: NC_000019.10:13105315:G:A,NC_000019.10:13105315:G:C
Gene:: TRMT1 (Varview), LOC105372282 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000052/4 (ALFA)
C=0.000072/18 (GnomAD_exomes)
C=0.000108/13 (ExAC)
C=0.000298/79 (TOPMED)
C=0.000356/28 (PAGE_STUDY)
C=0.000461/6 (GoESP)
HGVS:: NC_000019.10:g.13105316G>A, NC_000019.10:g.13105316G>C, NC_000019.9:g.13216130G>A, NC_000019.9:g.13216130G>C, NG_027756.2:g.2845C>T, NG_027756.2:g.2845C>G, NG_054900.1:g.17252C>T, NG_054900.1:g.17252C>G, NM_017722.5:c.1784C>T, NM_017722.5:c.1784C>G, NM_017722.4:c.1784C>T, NM_017722.4:c.1784C>G, NM_017722.3:c.1784C>T, NM_017722.3:c.1784C>G, NM_001136035.4:c.1784C>T, NM_001136035.4:c.1784C>G, NM_001136035.3:c.1784C>T, NM_001136035.3:c.1784C>G, NM_001136035.2:c.1784C>T, NM_001136035.2:c.1784C>G, NM_001142554.3:c.1697C>T, NM_001142554.3:c.1697C>G, NM_001142554.2:c.1697C>T, NM_001142554.2:c.1697C>G, NM_001142554.1:c.1697C>T, NM_001142554.1:c.1697C>G, NM_001351762.2:c.1001C>T, NM_001351762.2:c.1001C>G, NM_001351762.1:c.1001C>T, NM_001351762.1:c.1001C>G, NM_001351760.2:c.1697C>T, NM_001351760.2:c.1697C>G, NM_001351760.1:c.1697C>T, NM_001351760.1:c.1697C>G, NM_001351761.2:c.1676C>T, NM_001351761.2:c.1676C>G, NM_001351761.1:c.1676C>T, NM_001351761.1:c.1676C>G, NP_060192.1:p.Ala595Val, NP_060192.1:p.Ala595Gly, NP_001129507.1:p.Ala595Val, NP_001129507.1:p.Ala595Gly, NP_001136026.1:p.Ala566Val, NP_001136026.1:p.Ala566Gly, NP_001338691.1:p.Ala334Val, NP_001338691.1:p.Ala334Gly, NP_001338689.1:p.Ala566Val, NP_001338689.1:p.Ala566Gly, NP_001338690.1:p.Ala559Val, NP_001338690.1:p.Ala559Gly

Select item 1401457618.

rs140145761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:13109989 (GRCh38)
19:13220803 (GRCh37)
Canonical SPDI:: NC_000019.10:13109988:C:G
Gene:: TRMT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000425/19 (ALFA)
G=0.000367/92 (GnomAD_exomes)
G=0.00044/53 (ExAC)
G=0.001384/18 (GoESP)
G=0.001569/220 (GnomAD)
G=0.001606/425 (TOPMED)
G=0.003123/16 (1000Genomes)
G=0.023148/5 (Qatari)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.13109989C>G, NC_000019.9:g.13220803C>G, NG_054900.1:g.12579G>C, NM_017722.5:c.1032G>C, NM_017722.4:c.1032G>C, NM_017722.3:c.1032G>C, NM_001136035.4:c.1032G>C, NM_001136035.3:c.1032G>C, NM_001136035.2:c.1032G>C, NM_001351762.2:c.249G>C, NM_001351762.1:c.249G>C, NM_001351761.2:c.924G>C, NM_001351761.1:c.924G>C

Select item 1470624219.

rs147062421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13112759 (GRCh38)
19:13223573 (GRCh37)
Canonical SPDI:: NC_000019.10:13112758:C:G,NC_000019.10:13112758:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00076/34 (ALFA)
T=0./0 (ALSPAC)
T=0.000035/1 (TOMMO)
T=0.000539/2 (TWINSUK)
G=0.000546/1 (Korea1K)
T=0.00061/153 (GnomAD_exomes)
T=0.000705/85 (ExAC)
T=0.001811/254 (GnomAD)
T=0.001999/529 (TOPMED)
T=0.002076/27 (GoESP)
T=0.002186/11 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.13112759C>G, NC_000019.10:g.13112759C>T, NC_000019.9:g.13223573C>G, NC_000019.9:g.13223573C>T, NG_054900.1:g.9809G>C, NG_054900.1:g.9809G>A, NM_017722.5:c.816G>C, NM_017722.5:c.816G>A, NM_017722.4:c.816G>C, NM_017722.4:c.816G>A, NM_017722.3:c.816G>C, NM_017722.3:c.816G>A, NM_001136035.4:c.816G>C, NM_001136035.4:c.816G>A, NM_001136035.3:c.816G>C, NM_001136035.3:c.816G>A, NM_001136035.2:c.816G>C, NM_001136035.2:c.816G>A, NM_001142554.3:c.816G>C, NM_001142554.3:c.816G>A, NM_001142554.2:c.816G>C, NM_001142554.2:c.816G>A, NM_001142554.1:c.816G>C, NM_001142554.1:c.816G>A, NM_001351762.2:c.33G>C, NM_001351762.2:c.33G>A, NM_001351762.1:c.33G>C, NM_001351762.1:c.33G>A, NM_001351760.2:c.816G>C, NM_001351760.2:c.816G>A, NM_001351760.1:c.816G>C, NM_001351760.1:c.816G>A, NM_001351761.2:c.708G>C, NM_001351761.2:c.708G>A, NM_001351761.1:c.708G>C, NM_001351761.1:c.708G>A

Select item 14779961110.

rs147799611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13109470 (GRCh38)
19:13220284 (GRCh37)
Canonical SPDI:: NC_000019.10:13109469:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001914/95 (ALFA)
T=0.001579/418 (TOPMED)
T=0.001585/222 (GnomAD)
T=0.001718/9 (1000Genomes)
T=0.001816/7 (ALSPAC)
T=0.001948/489 (GnomAD_exomes)
T=0.002229/270 (ExAC)
T=0.002614/34 (GoESP)
T=0.002679/12 (Estonian)
T=0.002697/10 (TWINSUK)
T=0.003006/3 (GoNL)
T=0.006579/2 (FINRISK)
HGVS:: NC_000019.10:g.13109470C>T, NC_000019.9:g.13220284C>T, NG_054900.1:g.13098G>A

Select item 14885846711.

rs148858467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13107603 (GRCh38)
19:13218417 (GRCh37)
Canonical SPDI:: NC_000019.10:13107602:T:C
Gene:: TRMT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.008709/429 (ALFA)
C=0.001562/8 (1000Genomes)
C=0.005472/1319 (GnomAD_exomes)
C=0.005622/1488 (TOPMED)
C=0.005708/22 (ALSPAC)
C=0.005767/809 (GnomAD)
C=0.006075/79 (GoESP)
C=0.007551/28 (TWINSUK)
C=0.007664/572 (ExAC)
C=0.010791/3 (FINRISK)
C=0.011236/6 (MGP)
C=0.011667/7 (NorthernSweden)
C=0.012024/12 (GoNL)
C=0.015848/71 (Estonian)
C=0.021277/2 (PRJEB36033)
C=0.05/2 (GENOME_DK)
HGVS:: NC_000019.10:g.13107603T>C, NC_000019.9:g.13218417T>C, NG_027756.2:g.558A>G, NG_054900.1:g.14965A>G, NM_017722.5:c.1554A>G, NM_017722.4:c.1554A>G, NM_017722.3:c.1554A>G, NM_001136035.4:c.1554A>G, NM_001136035.3:c.1554A>G, NM_001136035.2:c.1554A>G, NM_001142554.3:c.1467A>G, NM_001142554.2:c.1467A>G, NM_001142554.1:c.1467A>G, NM_001351762.2:c.771A>G, NM_001351762.1:c.771A>G, NM_001351760.2:c.1467A>G, NM_001351760.1:c.1467A>G, NM_001351761.2:c.1446A>G, NM_001351761.1:c.1446A>G

Select item 15111920412.

rs151119204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13105322 (GRCh38)
19:13216136 (GRCh37)
Canonical SPDI:: NC_000019.10:13105321:T:C
Gene:: TRMT1 (Varview), LOC105372282 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000275/30 (ALFA)
C=0.00031/78 (GnomAD_exomes)
C=0.000331/40 (ExAC)
C=0.00102/143 (GnomAD)
C=0.001076/14 (GoESP)
C=0.001126/298 (TOPMED)
C=0.001562/8 (1000Genomes)
C=0.002136/168 (PAGE_STUDY)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.13105322T>C, NC_000019.9:g.13216136T>C, NG_027756.2:g.2839A>G, NG_054900.1:g.17246A>G, NM_017722.5:c.1778A>G, NM_017722.4:c.1778A>G, NM_017722.3:c.1778A>G, NM_001136035.4:c.1778A>G, NM_001136035.3:c.1778A>G, NM_001136035.2:c.1778A>G, NM_001142554.3:c.1691A>G, NM_001142554.2:c.1691A>G, NM_001142554.1:c.1691A>G, NM_001351762.2:c.995A>G, NM_001351762.1:c.995A>G, NM_001351760.2:c.1691A>G, NM_001351760.1:c.1691A>G, NM_001351761.2:c.1670A>G, NM_001351761.1:c.1670A>G, NP_060192.1:p.Asp593Gly, NP_001129507.1:p.Asp593Gly, NP_001136026.1:p.Asp564Gly, NP_001338691.1:p.Asp332Gly, NP_001338689.1:p.Asp564Gly, NP_001338690.1:p.Asp557Gly

Select item 18396143213.

rs183961432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:13107853 (GRCh38)
19:13218667 (GRCh37)
Canonical SPDI:: NC_000019.10:13107852:G:A,NC_000019.10:13107852:G:T
Gene:: TRMT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000563/24 (ALFA)
A=0.000285/6 (ExAC)
A=0.00179/251 (GnomAD)
A=0.00267/418 (GnomAD_exomes)
A=0.002834/750 (TOPMED)
A=0.003748/19 (1000Genomes)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.13107853G>A, NC_000019.10:g.13107853G>T, NC_000019.9:g.13218667G>A, NC_000019.9:g.13218667G>T, NG_027756.2:g.308C>T, NG_027756.2:g.308C>A, NG_054900.1:g.14715C>T, NG_054900.1:g.14715C>A, NM_017722.5:c.1404C>T, NM_017722.5:c.1404C>A, NM_017722.4:c.1404C>T, NM_017722.4:c.1404C>A, NM_017722.3:c.1404C>T, NM_017722.3:c.1404C>A, NM_001136035.4:c.1404C>T, NM_001136035.4:c.1404C>A, NM_001136035.3:c.1404C>T, NM_001136035.3:c.1404C>A, NM_001136035.2:c.1404C>T, NM_001136035.2:c.1404C>A, NM_001142554.3:c.1317C>T, NM_001142554.3:c.1317C>A, NM_001142554.2:c.1317C>T, NM_001142554.2:c.1317C>A, NM_001142554.1:c.1317C>T, NM_001142554.1:c.1317C>A, NM_001351762.2:c.621C>T, NM_001351762.2:c.621C>A, NM_001351762.1:c.621C>T, NM_001351762.1:c.621C>A, NM_001351760.2:c.1317C>T, NM_001351760.2:c.1317C>A, NM_001351760.1:c.1317C>T, NM_001351760.1:c.1317C>A, NM_001351761.2:c.1296C>T, NM_001351761.2:c.1296C>A, NM_001351761.1:c.1296C>T, NM_001351761.1:c.1296C>A

Select item 20098946614.

rs200989466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:13116352 (GRCh38)
19:13227166 (GRCh37)
Canonical SPDI:: NC_000019.10:13116351:C:A,NC_000019.10:13116351:C:G
Gene:: TRMT1 (Varview), NACC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: A=0.000008/1 (ExAC)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.13116352C>A, NC_000019.10:g.13116352C>G, NC_000019.9:g.13227166C>A, NC_000019.9:g.13227166C>G, NG_054900.1:g.6216G>T, NG_054900.1:g.6216G>C, NM_017722.5:c.48G>T, NM_017722.5:c.48G>C, NM_017722.4:c.48G>T, NM_017722.4:c.48G>C, NM_017722.3:c.48G>T, NM_017722.3:c.48G>C, NM_001136035.4:c.48G>T, NM_001136035.4:c.48G>C, NM_001136035.3:c.48G>T, NM_001136035.3:c.48G>C, NM_001136035.2:c.48G>T, NM_001136035.2:c.48G>C, NM_001142554.3:c.48G>T, NM_001142554.3:c.48G>C, NM_001142554.2:c.48G>T, NM_001142554.2:c.48G>C, NM_001142554.1:c.48G>T, NM_001142554.1:c.48G>C, NM_001351762.2:c.-816G>T, NM_001351762.2:c.-816G>C, NM_001351762.1:c.-816G>T, NM_001351762.1:c.-816G>C, NM_001351760.2:c.48G>T, NM_001351760.2:c.48G>C, NM_001351760.1:c.48G>T, NM_001351760.1:c.48G>C

Select item 20200354215.

rs202003542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13116226 (GRCh38)
19:13227040 (GRCh37)
Canonical SPDI:: NC_000019.10:13116225:G:A,NC_000019.10:13116225:G:C
Gene:: TRMT1 (Varview), NACC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.13116226G>A, NC_000019.10:g.13116226G>C, NC_000019.9:g.13227040G>A, NC_000019.9:g.13227040G>C, NG_054900.1:g.6342C>T, NG_054900.1:g.6342C>G, NM_017722.5:c.174C>T, NM_017722.5:c.174C>G, NM_017722.4:c.174C>T, NM_017722.4:c.174C>G, NM_017722.3:c.174C>T, NM_017722.3:c.174C>G, NM_001136035.4:c.174C>T, NM_001136035.4:c.174C>G, NM_001136035.3:c.174C>T, NM_001136035.3:c.174C>G, NM_001136035.2:c.174C>T, NM_001136035.2:c.174C>G, NM_001142554.3:c.174C>T, NM_001142554.3:c.174C>G, NM_001142554.2:c.174C>T, NM_001142554.2:c.174C>G, NM_001142554.1:c.174C>T, NM_001142554.1:c.174C>G, NM_001351762.2:c.-690C>T, NM_001351762.2:c.-690C>G, NM_001351762.1:c.-690C>T, NM_001351762.1:c.-690C>G, NM_001351760.2:c.174C>T, NM_001351760.2:c.174C>G, NM_001351760.1:c.174C>T, NM_001351760.1:c.174C>G, NM_001351761.2:c.66C>T, NM_001351761.2:c.66C>G, NM_001351761.1:c.66C>T, NM_001351761.1:c.66C>G

Select item 37427315116.

rs374273151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13115992 (GRCh38)
19:13226806 (GRCh37)
Canonical SPDI:: NC_000019.10:13115991:C:G,NC_000019.10:13115991:C:T
Gene:: TRMT1 (Varview), NACC1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0./0 (ALSPAC)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
G=0.00004/10 (GnomAD_exomes)
G=0.00005/6 (ExAC)
G=0.000154/2 (GoESP)
G=0.00027/1 (TWINSUK)
HGVS:: NC_000019.10:g.13115992C>G, NC_000019.10:g.13115992C>T, NC_000019.9:g.13226806C>G, NC_000019.9:g.13226806C>T, NG_054900.1:g.6576G>C, NG_054900.1:g.6576G>A

Select item 37588178517.

rs375881785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13110149 (GRCh38)
19:13220963 (GRCh37)
Canonical SPDI:: NC_000019.10:13110148:C:G,NC_000019.10:13110148:C:T
Gene:: TRMT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00014/4 (ALFA)
T=0.00004/1 (TOMMO)
T=0.00008/1 (GoESP)
G=0.00022/1 (Estonian)
G=0.00081/3 (TWINSUK)
G=0.001/1 (GoNL)
G=0.00156/6 (ALSPAC)
HGVS:: NC_000019.10:g.13110149C>G, NC_000019.10:g.13110149C>T, NC_000019.9:g.13220963C>G, NC_000019.9:g.13220963C>T, NG_054900.1:g.12419G>C, NG_054900.1:g.12419G>A