SNP Links for Gene (Select 54996) - SNP

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Select item 14915588601.

rs1491558860 has merged into rs141445083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 1:220763650 (GRCh38)
1:220936992 (GRCh37)
Canonical SPDI:: NC_000001.11:220763640:ATATATATATA:ATATATATA,NC_000001.11:220763640:ATATATATATA:ATATATATATATA
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0.007991/148 (ALFA)
AT=0.000446/2 (Estonian)
AT=0.002004/2 (GoNL)
AT=0.012435/1741 (GnomAD)
AT=0.014341/3796 (TOPMED)
AT=0.023364/5 (Vietnamese)
AT=0.030606/153 (1000Genomes)
AT=0.050184/841 (TOMMO)
AT=0.073144/134 (Korea1K)
HGVS:: NC_000001.11:g.220763642TA[4], NC_000001.11:g.220763642TA[6], NC_000001.10:g.220936984TA[4], NC_000001.10:g.220936984TA[6]

Select item 14915273682.

rs1491527368 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAC,AAT [Show Flanks]
Chromosome:: 1:220769957 (GRCh38)
1:220943300 (GRCh37)
Canonical SPDI:: NC_000001.11:220769957::AAAAAAAC,NC_000001.11:220769957::AAT
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAC=0.00006/1 (ALFA)
HGVS:: NC_000001.11:g.220769957_220769958insAAAAAAAC, NC_000001.11:g.220769957_220769958insAAT, NC_000001.10:g.220943299_220943300insAAAAAAAC, NC_000001.10:g.220943299_220943300insAAT

Select item 14914621793.

rs1491462179 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:220771296 (GRCh38)
1:220944638 (GRCh37)
Canonical SPDI:: NC_000001.11:220771295:CA:
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.220771296_220771297del, NC_000001.10:g.220944638_220944639del

Select item 14914533704.

rs1491453370 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:220780453 (GRCh38)
1:220953795 (GRCh37)
Canonical SPDI:: NC_000001.11:220780452:CT:
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.220780453_220780454del, NC_000001.10:g.220953795_220953796del

Select item 14913585025.

rs1491358502 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:220766857 (GRCh38)
1:220940199 (GRCh37)
Canonical SPDI:: NC_000001.11:220766856:GT:
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.220766857_220766858del, NC_000001.10:g.220940199_220940200del

Select item 14911158476.

rs1491115847 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:220749428 (GRCh38)
1:220922771 (GRCh37)
Canonical SPDI:: NC_000001.11:220749428:T:TCT
Gene:: MTARC2 (Varview), LOC124904516 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.220749429_220749430insCT, NC_000001.10:g.220922771_220922772insCT

Select item 14910982447.

rs1491098244 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:220766857 (GRCh38)
1:220940200 (GRCh37)
Canonical SPDI:: NC_000001.11:220766857::A
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.220766857_220766858insA, NC_000001.10:g.220940199_220940200insA

Select item 14910360268.

rs1491036026 has merged into rs60336134 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:220778256 (GRCh38)
1:220951598 (GRCh37)
Canonical SPDI:: NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:220778247:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.220778256_220778268del, NC_000001.11:g.220778257_220778268del, NC_000001.11:g.220778258_220778268del, NC_000001.11:g.220778259_220778268del, NC_000001.11:g.220778261_220778268del, NC_000001.11:g.220778262_220778268del, NC_000001.11:g.220778263_220778268del, NC_000001.11:g.220778264_220778268del, NC_000001.11:g.220778265_220778268del, NC_000001.11:g.220778266_220778268del, NC_000001.11:g.220778267_220778268del, NC_000001.11:g.220778268del, NC_000001.11:g.220778268dup, NC_000001.11:g.220778267_220778268dup, NC_000001.11:g.220778266_220778268dup, NC_000001.11:g.220778265_220778268dup, NC_000001.11:g.220778264_220778268dup, NC_000001.11:g.220778262_220778268dup, NC_000001.11:g.220778261_220778268dup, NC_000001.11:g.220778259_220778268dup, NC_000001.11:g.220778258_220778268dup, NC_000001.11:g.220778256_220778268dup, NC_000001.11:g.220778255_220778268dup, NC_000001.10:g.220951598_220951610del, NC_000001.10:g.220951599_220951610del, NC_000001.10:g.220951600_220951610del, NC_000001.10:g.220951601_220951610del, NC_000001.10:g.220951603_220951610del, NC_000001.10:g.220951604_220951610del, NC_000001.10:g.220951605_220951610del, NC_000001.10:g.220951606_220951610del, NC_000001.10:g.220951607_220951610del, NC_000001.10:g.220951608_220951610del, NC_000001.10:g.220951609_220951610del, NC_000001.10:g.220951610del, NC_000001.10:g.220951610dup, NC_000001.10:g.220951609_220951610dup, NC_000001.10:g.220951608_220951610dup, NC_000001.10:g.220951607_220951610dup, NC_000001.10:g.220951606_220951610dup, NC_000001.10:g.220951604_220951610dup, NC_000001.10:g.220951603_220951610dup, NC_000001.10:g.220951601_220951610dup, NC_000001.10:g.220951600_220951610dup, NC_000001.10:g.220951598_220951610dup, NC_000001.10:g.220951597_220951610dup

Select item 14910255939.

rs1491025593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGTGTGTGTTTGT [Show Flanks]
Chromosome:: 1:220772684 (GRCh38)
1:220946027 (GRCh37)
Canonical SPDI:: NC_000001.11:220772684:TGT:TGTATGTGTGTGTGTTTGT
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTATGTGTGTGTGTTTGT=0./0 (ALFA)
TGTATGTGTGTGTGTT=0.00039/54 (GnomAD)
HGVS:: NC_000001.11:g.220772687_220772688insATGTGTGTGTGTTTGT, NC_000001.10:g.220946029_220946030insATGTGTGTGTGTTTGT

Select item 149094018710.

rs1490940187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:220780023 (GRCh38)
1:220953365 (GRCh37)
Canonical SPDI:: NC_000001.11:220780022:C:G
Gene:: MTARC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.220780023C>G, NC_000001.10:g.220953365C>G, NM_017898.5:c.756C>G, NM_017898.4:c.756C>G, NM_017898.3:c.756C>G, NM_001317338.2:c.756C>G, NM_001317338.1:c.756C>G, XM_011509684.2:c.486C>G, XM_011509684.1:c.486C>G, XR_007061333.1:n.1142C>G, XM_047423617.1:c.201C>G

Select item 149091393911.

rs1490913939 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTAGC>- [Show Flanks]
Chromosome:: 1:220776965 (GRCh38)
1:220950307 (GRCh37)
Canonical SPDI:: NC_000001.11:220776963:CAGTAGC:C
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.220776965_220776970del, NC_000001.10:g.220950307_220950312del

Select item 149088541712.

rs1490885417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220755221 (GRCh38)
1:220928563 (GRCh37)
Canonical SPDI:: NC_000001.11:220755220:A:G
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.220755221A>G, NC_000001.10:g.220928563A>G, XM_047423617.1:c.-115A>G

Select item 149084988913.

rs1490849889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:220763248 (GRCh38)
1:220936590 (GRCh37)
Canonical SPDI:: NC_000001.11:220763247:C:T
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.220763248C>T, NC_000001.10:g.220936590C>T

Select item 149072767614.

rs1490727676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:220779496 (GRCh38)
1:220952838 (GRCh37)
Canonical SPDI:: NC_000001.11:220779495:C:T
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.220779496C>T, NC_000001.10:g.220952838C>T

Select item 149070632415.

rs1490706324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:220747004 (GRCh38)
1:220920346 (GRCh37)
Canonical SPDI:: NC_000001.11:220747003:G:T
Gene:: MTARC2 (Varview), LOC124904516 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.220747004G>T, NC_000001.10:g.220920346G>T

Select item 149063219416.

rs1490632194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:220778219 (GRCh38)
1:220951561 (GRCh37)
Canonical SPDI:: NC_000001.11:220778218:G:A
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.220778219G>A, NC_000001.10:g.220951561G>A

Select item 149056566217.

rs1490565662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:220780719 (GRCh38)
1:220954061 (GRCh37)
Canonical SPDI:: NC_000001.11:220780718:C:T
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.220780719C>T, NC_000001.10:g.220954061C>T

Select item 149055755218.

rs1490557552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:220746560 (GRCh38)
1:220919902 (GRCh37)
Canonical SPDI:: NC_000001.11:220746559:A:C
Gene:: MTARC2 (Varview), LOC124904516 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.220746560A>C, NC_000001.10:g.220919902A>C, XR_007066884.1:n.1201T>G

Select item 149055207519.

rs1490552075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:220780149 (GRCh38)
1:220953491 (GRCh37)
Canonical SPDI:: NC_000001.11:220780148:C:T
Gene:: MTARC2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.220780149C>T, NC_000001.10:g.220953491C>T

Select item 149052172620.

rs1490521726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220784640 (GRCh38)
1:220957982 (GRCh37)
Canonical SPDI:: NC_000001.11:220784639:A:G
Gene:: MTARC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.220784640A>G, NC_000001.10:g.220957982A>G, NM_017898.5:c.*753A>G, NM_017898.4:c.*753A>G, NM_001317338.2:c.*760A>G, NM_001317338.1:c.*760A>G, NM_001331042.2:c.*698A>G, NM_001331042.1:c.*698A>G

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