SNP Links for Gene (Select 339175) - SNP

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Select item 14915156851.

rs1491515685 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTTTTTTTTTGTG,TTTTTTTTTTTTG,TTTTTTTTTTTTTTTTTTTTTA [Show Flanks]
Chromosome:: 17:62450276 (GRCh38)
17:60527638 (GRCh37)
Canonical SPDI:: NC_000017.11:62450276::TA,NC_000017.11:62450276::TTTTTTTTTTTGTG,NC_000017.11:62450276::TTTTTTTTTTTTG,NC_000017.11:62450276::TTTTTTTTTTTTTTTTTTTTTA
Gene:: METTL2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTA=0.00336/2 (NorthernSweden)
HGVS:: NC_000017.11:g.62450276_62450277insTA, NC_000017.11:g.62450276_62450277insTTTTTTTTTTTGTG, NC_000017.11:g.62450276_62450277insTTTTTTTTTTTTG, NC_000017.11:g.62450276_62450277insTTTTTTTTTTTTTTTTTTTTTA, NC_000017.10:g.60527637_60527638insTA, NC_000017.10:g.60527637_60527638insTTTTTTTTTTTGTG, NC_000017.10:g.60527637_60527638insTTTTTTTTTTTTG, NC_000017.10:g.60527637_60527638insTTTTTTTTTTTTTTTTTTTTTA, NM_181725.4:c.*1547_*1548insTA, NM_181725.4:c.*1547_*1548insTTTTTTTTTTTGTG, NM_181725.4:c.*1547_*1548insTTTTTTTTTTTTG, NM_181725.4:c.*1547_*1548insTTTTTTTTTTTTTTTTTTTTTA

Select item 14913215762.

rs1491321576 has merged into rs35559687 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:62438587 (GRCh38)
17:60515948 (GRCh37)
Canonical SPDI:: NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:62438576:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.204473/1024 (1000Genomes)
HGVS:: NC_000017.11:g.62438587_62438594del, NC_000017.11:g.62438588_62438594del, NC_000017.11:g.62438591_62438594del, NC_000017.11:g.62438592_62438594del, NC_000017.11:g.62438593_62438594del, NC_000017.11:g.62438594del, NC_000017.11:g.62438594dup, NC_000017.11:g.62438593_62438594dup, NC_000017.11:g.62438592_62438594dup, NC_000017.10:g.60515948_60515955del, NC_000017.10:g.60515949_60515955del, NC_000017.10:g.60515952_60515955del, NC_000017.10:g.60515953_60515955del, NC_000017.10:g.60515954_60515955del, NC_000017.10:g.60515955del, NC_000017.10:g.60515955dup, NC_000017.10:g.60515954_60515955dup, NC_000017.10:g.60515953_60515955dup

Select item 14912266863.

rs1491226686 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:62438576 (GRCh38)
17:60515937 (GRCh37)
Canonical SPDI:: NC_000017.11:62438575:CA:
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000017.11:g.62438576_62438577del, NC_000017.10:g.60515937_60515938del

Select item 14911663104.

rs1491166310 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:62450276 (GRCh38)
17:60527637 (GRCh37)
Canonical SPDI:: NC_000017.11:62450275:TA:
Gene:: METTL2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000071/2 (TOMMO)
-=0.000175/19 (GnomAD)
HGVS:: NC_000017.11:g.62450276_62450277del, NC_000017.10:g.60527637_60527638del, NM_181725.4:c.*1547_*1548del

Select item 14909292585.

rs1490929258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:62441521 (GRCh38)
17:60518882 (GRCh37)
Canonical SPDI:: NC_000017.11:62441520:A:C,NC_000017.11:62441520:A:G
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.62441521A>C, NC_000017.11:g.62441521A>G, NC_000017.10:g.60518882A>C, NC_000017.10:g.60518882A>G

Select item 14908455156.

rs1490845515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:62444299 (GRCh38)
17:60521660 (GRCh37)
Canonical SPDI:: NC_000017.11:62444298:A:C,NC_000017.11:62444298:A:T
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.62444299A>C, NC_000017.11:g.62444299A>T, NC_000017.10:g.60521660A>C, NC_000017.10:g.60521660A>T

Select item 14907869387.

rs1490786938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:62428376 (GRCh38)
17:60505737 (GRCh37)
Canonical SPDI:: NC_000017.11:62428375:C:A
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.62428376C>A, NC_000017.10:g.60505737C>A

Select item 14906475378.

rs1490647537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:62436602 (GRCh38)
17:60513963 (GRCh37)
Canonical SPDI:: NC_000017.11:62436601:T:G
Gene:: METTL2A (Varview)
Functional Consequence:: intron_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_000017.11:g.62436602T>G, NC_000017.10:g.60513963T>G

Select item 14904064339.

rs1490406433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:62442770 (GRCh38)
17:60520131 (GRCh37)
Canonical SPDI:: NC_000017.11:62442769:T:G
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62442770T>G, NC_000017.10:g.60520131T>G

Select item 148991517610.

rs1489915176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:62442253 (GRCh38)
17:60519614 (GRCh37)
Canonical SPDI:: NC_000017.11:62442252:A:G
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62442253A>G, NC_000017.10:g.60519614A>G

Select item 148985103411.

rs1489851034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62426110 (GRCh38)
17:60503471 (GRCh37)
Canonical SPDI:: NC_000017.11:62426109:G:A
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.62426110G>A, NC_000017.10:g.60503471G>A

Select item 148978053912.

rs1489780539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:62441239 (GRCh38)
17:60518600 (GRCh37)
Canonical SPDI:: NC_000017.11:62441238:T:A,NC_000017.11:62441238:T:C
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.62441239T>A, NC_000017.11:g.62441239T>C, NC_000017.10:g.60518600T>A, NC_000017.10:g.60518600T>C

Select item 148977575213.

rs1489775752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:62440377 (GRCh38)
17:60517738 (GRCh37)
Canonical SPDI:: NC_000017.11:62440376:G:T
Gene:: METTL2A (Varview)
Functional Consequence:: intron_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_000017.11:g.62440377G>T, NC_000017.10:g.60517738G>T

Select item 148971102914.

rs1489711029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62438711 (GRCh38)
17:60516072 (GRCh37)
Canonical SPDI:: NC_000017.11:62438710:C:T
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.62438711C>T, NC_000017.10:g.60516072C>T

Select item 148966789115.

rs1489667891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:62446360 (GRCh38)
17:60523721 (GRCh37)
Canonical SPDI:: NC_000017.11:62446359:G:T
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62446360G>T, NC_000017.10:g.60523721G>T

Select item 148940096216.

rs1489400962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:62428847 (GRCh38)
17:60506208 (GRCh37)
Canonical SPDI:: NC_000017.11:62428846:G:A
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.62428847G>A, NC_000017.10:g.60506208G>A

Select item 148928898117.

rs1489288981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:62429058 (GRCh38)
17:60506419 (GRCh37)
Canonical SPDI:: NC_000017.11:62429057:T:G
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.62429058T>G, NC_000017.10:g.60506419T>G

Select item 148910292618.

rs1489102926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:62422563 (GRCh38)
17:60499924 (GRCh37)
Canonical SPDI:: NC_000017.11:62422562:C:T
Gene:: METTL2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.62422563C>T, NC_000017.10:g.60499924C>T

Select item 148901084619.

rs1489010846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62422900 (GRCh38)
17:60500261 (GRCh37)
Canonical SPDI:: NC_000017.11:62422899:T:C
Gene:: METTL2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.62422900T>C, NC_000017.10:g.60500261T>C

Select item 148894833020.

rs1488948330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:62434135 (GRCh38)
17:60511496 (GRCh37)
Canonical SPDI:: NC_000017.11:62434134:T:C
Gene:: METTL2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.62434135T>C, NC_000017.10:g.60511496T>C

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