SNP Links for Gene (Select 677832) - SNP

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Items: 1 to 20 of 784

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Select item 14901296161.

rs1490129616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:98599663 (GRCh38)
12:98993441 (GRCh37)
Canonical SPDI:: NC_000012.12:98599662:G:A,NC_000012.12:98599662:G:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.98599663G>A, NC_000012.12:g.98599663G>C, NC_000012.11:g.98993441G>A, NC_000012.11:g.98993441G>C, NG_011702.1:g.11039G>A, NG_011702.1:g.11039G>C, NR_003015.1:n.29G>A, NR_003015.1:n.29G>C

Select item 14896233022.

rs1489623302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:98599725 (GRCh38)
12:98993503 (GRCh37)
Canonical SPDI:: NC_000012.12:98599724:G:T
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.98599725G>T, NC_000012.11:g.98993503G>T, NG_011702.1:g.11101G>T, NR_003015.1:n.91G>T

Select item 14893431723.

rs1489343172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:98600045 (GRCh38)
12:98993823 (GRCh37)
Canonical SPDI:: NC_000012.12:98600044:G:A,NC_000012.12:98600044:G:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98600045G>A, NC_000012.12:g.98600045G>C, NC_000012.11:g.98993823G>A, NC_000012.11:g.98993823G>C, NG_011702.1:g.11421G>A, NG_011702.1:g.11421G>C, NM_005888.3:c.735G>A, NM_005888.3:c.735G>C, NM_005888.4:c.735G>A, NM_005888.4:c.735G>C, NM_002635.3:c.732G>A, NM_002635.3:c.732G>C, NM_002635.4:c.732G>A, NM_002635.4:c.732G>C, NM_213611.2:c.732G>A, NM_213611.2:c.732G>C, NM_213611.3:c.732G>A, NM_213611.3:c.732G>C, NM_213612.1:c.*1953G>A, NM_213612.1:c.*1953G>C

Select item 14892476944.

rs1489247694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98600065 (GRCh38)
12:98993843 (GRCh37)
Canonical SPDI:: NC_000012.12:98600064:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98600065A>G, NC_000012.11:g.98993843A>G, NG_011702.1:g.11441A>G, NM_005888.3:c.755A>G, NM_005888.4:c.755A>G, NM_002635.3:c.752A>G, NM_002635.4:c.752A>G, NM_213611.2:c.752A>G, NM_213611.3:c.752A>G, NM_213612.1:c.*1973A>G, NP_005879.1:p.Lys252Arg, NP_002626.1:p.Lys251Arg, NP_998776.1:p.Lys251Arg

Select item 14841967745.

rs1484196774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:98598928 (GRCh38)
12:98992706 (GRCh37)
Canonical SPDI:: NC_000012.12:98598927:A:C,NC_000012.12:98598927:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000083/22 (TOPMED)
HGVS:: NC_000012.12:g.98598928A>C, NC_000012.12:g.98598928A>G, NC_000012.11:g.98992706A>C, NC_000012.11:g.98992706A>G, NG_011702.1:g.10304A>C, NG_011702.1:g.10304A>G

Select item 14827377626.

rs1482737762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98598443 (GRCh38)
12:98992221 (GRCh37)
Canonical SPDI:: NC_000012.12:98598442:T:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98598443T>C, NC_000012.11:g.98992221T>C, NG_011702.1:g.9819T>C

Select item 14824195047.

rs1482419504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98599290 (GRCh38)
12:98993068 (GRCh37)
Canonical SPDI:: NC_000012.12:98599289:T:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98599290T>G, NC_000012.11:g.98993068T>G, NG_011702.1:g.10666T>G

Select item 14808026168.

rs1480802616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:98597865 (GRCh38)
12:98991643 (GRCh37)
Canonical SPDI:: NC_000012.12:98597864:C:T
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98597865C>T, NC_000012.11:g.98991643C>T, NG_011702.1:g.9241C>T, NM_005888.3:c.292C>T, NM_005888.4:c.292C>T, NM_002635.3:c.289C>T, NM_002635.4:c.289C>T, NM_213611.2:c.289C>T, NM_213611.3:c.289C>T, NM_213612.1:c.*1510C>T, NP_005879.1:p.Gln98Ter, NP_002626.1:p.Gln97Ter, NP_998776.1:p.Gln97Ter

Select item 14794130689.

rs1479413068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98598171 (GRCh38)
12:98991949 (GRCh37)
Canonical SPDI:: NC_000012.12:98598170:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.98598171A>G, NC_000012.11:g.98991949A>G, NG_011702.1:g.9547A>G

Select item 147730962510.

rs1477309625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98598629 (GRCh38)
12:98992407 (GRCh37)
Canonical SPDI:: NC_000012.12:98598628:T:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000012.12:g.98598629T>G, NC_000012.11:g.98992407T>G, NG_011702.1:g.10005T>G, NM_005888.3:c.570T>G, NM_005888.4:c.570T>G, NM_002635.3:c.567T>G, NM_002635.4:c.567T>G, NM_213611.2:c.567T>G, NM_213611.3:c.567T>G, NM_213612.1:c.*1788T>G, NP_005879.1:p.Ile190Met, NP_002626.1:p.Ile189Met, NP_998776.1:p.Ile189Met

Select item 147602578811.

rs1476025788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98598182 (GRCh38)
12:98991960 (GRCh37)
Canonical SPDI:: NC_000012.12:98598181:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98598182A>G, NC_000012.11:g.98991960A>G, NG_011702.1:g.9558A>G

Select item 147290311712.

rs1472903117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98598761 (GRCh38)
12:98992539 (GRCh37)
Canonical SPDI:: NC_000012.12:98598760:T:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98598761T>G, NC_000012.11:g.98992539T>G, NG_011702.1:g.10137T>G

Select item 147264995113.

rs1472649951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:98598921 (GRCh38)
12:98992699 (GRCh37)
Canonical SPDI:: NC_000012.12:98598920:G:A,NC_000012.12:98598920:G:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98598921G>A, NC_000012.12:g.98598921G>C, NC_000012.11:g.98992699G>A, NC_000012.11:g.98992699G>C, NG_011702.1:g.10297G>A, NG_011702.1:g.10297G>C

Select item 147243804914.

rs1472438049 has merged into rs1160379378 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 12:98598765 (GRCh38)
12:98992543 (GRCh37)
Canonical SPDI:: NC_000012.12:98598759:TTTTTTTTT:TTTTT,NC_000012.12:98598759:TTTTTTTTT:TTTTTTT,NC_000012.12:98598759:TTTTTTTTT:TTTTTTTT,NC_000012.12:98598759:TTTTTTTTT:TTTTTTTTTT,NC_000012.12:98598759:TTTTTTTTT:TTTTTTTTTTTTT
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.98598765_98598768del, NC_000012.12:g.98598767_98598768del, NC_000012.12:g.98598768del, NC_000012.12:g.98598768dup, NC_000012.12:g.98598765_98598768dup, NC_000012.11:g.98992543_98992546del, NC_000012.11:g.98992545_98992546del, NC_000012.11:g.98992546del, NC_000012.11:g.98992546dup, NC_000012.11:g.98992543_98992546dup, NG_011702.1:g.10141_10144del, NG_011702.1:g.10143_10144del, NG_011702.1:g.10144del, NG_011702.1:g.10144dup, NG_011702.1:g.10141_10144dup

Select item 147204870915.

rs1472048709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:98599363 (GRCh38)
12:98993141 (GRCh37)
Canonical SPDI:: NC_000012.12:98599362:T:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98599363T>A, NC_000012.11:g.98993141T>A, NG_011702.1:g.10739T>A

Select item 147100125216.

rs1471001252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98598962 (GRCh38)
12:98992740 (GRCh37)
Canonical SPDI:: NC_000012.12:98598961:T:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98598962T>C, NC_000012.11:g.98992740T>C, NG_011702.1:g.10338T>C

Select item 147083604017.

rs1470836040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:98597955 (GRCh38)
12:98991733 (GRCh37)
Canonical SPDI:: NC_000012.12:98597954:C:A,NC_000012.12:98597954:C:T
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.001027/3 (KOREAN)
HGVS:: NC_000012.12:g.98597955C>A, NC_000012.12:g.98597955C>T, NC_000012.11:g.98991733C>A, NC_000012.11:g.98991733C>T, NG_011702.1:g.9331C>A, NG_011702.1:g.9331C>T, NM_005888.3:c.382C>A, NM_005888.3:c.382C>T, NM_005888.4:c.382C>A, NM_005888.4:c.382C>T, NM_002635.3:c.379C>A, NM_002635.3:c.379C>T, NM_002635.4:c.379C>A, NM_002635.4:c.379C>T, NM_213611.2:c.379C>A, NM_213611.2:c.379C>T, NM_213611.3:c.379C>A, NM_213611.3:c.379C>T, NM_213612.1:c.*1600C>A, NM_213612.1:c.*1600C>T, NP_005879.1:p.Leu128Ile, NP_005879.1:p.Leu128Phe, NP_002626.1:p.Leu127Ile, NP_002626.1:p.Leu127Phe, NP_998776.1:p.Leu127Ile, NP_998776.1:p.Leu127Phe

Select item 146851747018.

rs1468517470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:98598663 (GRCh38)
12:98992441 (GRCh37)
Canonical SPDI:: NC_000012.12:98598662:G:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98598663G>C, NC_000012.11:g.98992441G>C, NG_011702.1:g.10039G>C, NM_005888.3:c.604G>C, NM_005888.4:c.604G>C, NM_002635.3:c.601G>C, NM_002635.4:c.601G>C, NM_213611.2:c.601G>C, NM_213611.3:c.601G>C, NM_213612.1:c.*1822G>C, NP_005879.1:p.Asp202His, NP_002626.1:p.Asp201His, NP_998776.1:p.Asp201His

Select item 146804074319.

rs1468040743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98598869 (GRCh38)
12:98992647 (GRCh37)
Canonical SPDI:: NC_000012.12:98598868:G:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000088/12 (GnomAD)
A=0.000312/2 (1000Genomes)
A=0.002183/4 (Korea1K)
A=0.006653/112 (TOMMO)
A=0.007529/22 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.98598869G>A, NC_000012.11:g.98992647G>A, NG_011702.1:g.10245G>A

Select item 146790703720.

rs1467907037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98600368 (GRCh38)
12:98994146 (GRCh37)
Canonical SPDI:: NC_000012.12:98600367:G:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.98600368G>A, NC_000012.11:g.98994146G>A, NG_011702.1:g.11744G>A

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