SNP Links for Gene (Select 317648) - SNP

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Select item 14911518761.

rs1491151876 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGG [Show Flanks]
Chromosome:: 4:2933716 (GRCh38)
4:2935443 (GRCh37)
Canonical SPDI:: NC_000004.12:2933711:GGGGGG:GGGG,NC_000004.12:2933711:GGGGGG:GGGGGGG
Gene:: MFSD10 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
-=0.000012/1 (ExAC)
-=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2933716_2933717del, NC_000004.12:g.2933717dup, NC_000004.11:g.2935443_2935444del, NC_000004.11:g.2935444dup

Select item 14908653932.

rs1490865393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2947079 (GRCh38)
4:2948806 (GRCh37)
Canonical SPDI:: NC_000004.12:2947078:G:A
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.2947079G>A, NC_000004.11:g.2948806G>A, NG_083269.1:g.545G>A, NR_015453.2:n.2904G>A, NR_015453.1:n.2904G>A

Select item 14908418683.

rs1490841868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:2936966 (GRCh38)
4:2938693 (GRCh37)
Canonical SPDI:: NC_000004.12:2936965:T:C
Gene:: NOP14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2936966T>C, NC_000004.11:g.2938693T>C, NR_015453.2:n.1421T>C, NR_015453.1:n.1421T>C

Select item 14908402824.

rs1490840282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:2948150 (GRCh38)
4:2949877 (GRCh37)
Canonical SPDI:: NC_000004.12:2948149:C:A
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.2948150C>A, NC_000004.11:g.2949877C>A

Select item 14907681545.

rs1490768154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2951185 (GRCh38)
4:2952912 (GRCh37)
Canonical SPDI:: NC_000004.12:2951184:G:A
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2951185G>A, NC_000004.11:g.2952912G>A, NM_003703.3:c.931C>T, NM_003703.2:c.931C>T, NM_003703.1:c.931C>T, NM_001291978.2:c.931C>T, NM_001291978.1:c.931C>T, NM_001291979.2:c.931C>T, NM_001291979.1:c.931C>T, XM_047416338.1:c.931C>T, NP_003694.1:p.His311Tyr, NP_001278907.1:p.His311Tyr, NP_001278908.1:p.His311Tyr, XP_047272294.1:p.His311Tyr

Select item 14903241836.

rs1490324183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:2942821 (GRCh38)
4:2944548 (GRCh37)
Canonical SPDI:: NC_000004.12:2942820:G:C
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.2942821G>C, NC_000004.11:g.2944548G>C

Select item 14903092017.

rs1490309201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:2941145 (GRCh38)
4:2942872 (GRCh37)
Canonical SPDI:: NC_000004.12:2941144:G:C
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.2941145G>C, NC_000004.11:g.2942872G>C

Select item 14899571158.

rs1489957115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:2941415 (GRCh38)
4:2943142 (GRCh37)
Canonical SPDI:: NC_000004.12:2941414:C:A,NC_000004.12:2941414:C:T
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000004.12:g.2941415C>A, NC_000004.12:g.2941415C>T, NC_000004.11:g.2943142C>A, NC_000004.11:g.2943142C>T

Select item 14896476319.

rs1489647631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2935466 (GRCh38)
4:2937193 (GRCh37)
Canonical SPDI:: NC_000004.12:2935465:C:T
Gene:: MFSD10 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.2935466C>T, NC_000004.11:g.2937193C>T

Select item 148959884810.

rs1489598848 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:2937250 (GRCh38)
4:2938977 (GRCh37)
Canonical SPDI:: NC_000004.12:2937249:CC:C
Gene:: NOP14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2937251del, NC_000004.11:g.2938978del, NR_015453.2:n.1706del, NR_015453.1:n.1706del

Select item 148944786111.

rs1489447861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2938270 (GRCh38)
4:2939997 (GRCh37)
Canonical SPDI:: NC_000004.12:2938269:C:T
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.2938270C>T, NC_000004.11:g.2939997C>T, NM_001291978.2:c.*561G>A, NM_001291978.1:c.*561G>A, NM_001291979.2:c.2364G>A, NM_001291979.1:c.2364G>A

Select item 148922020712.

rs1489220207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2938900 (GRCh38)
4:2940627 (GRCh37)
Canonical SPDI:: NC_000004.12:2938899:C:T
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2938900C>T, NC_000004.11:g.2940627C>T, NM_003703.3:c.2505G>A, NM_003703.2:c.2505G>A, NM_003703.1:c.2505G>A, NM_001291978.2:c.2505G>A, NM_001291978.1:c.2505G>A

Select item 148917397513.

rs1489173975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2936602 (GRCh38)
4:2938329 (GRCh37)
Canonical SPDI:: NC_000004.12:2936601:G:A
Gene:: MFSD10 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.2936602G>A, NC_000004.11:g.2938329G>A, NG_083268.1:g.1040G>A, NR_015453.2:n.1057G>A, NR_015453.1:n.1057G>A

Select item 148900108114.

rs1489001081 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:2938431 (GRCh38)
4:2940158 (GRCh37)
Canonical SPDI:: NC_000004.12:2938430:AA:A
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.2938432del, NC_000004.11:g.2940159del, NM_001291978.2:c.*400del, NM_001291978.1:c.*400del

Select item 148882484315.

rs1488824843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2943720 (GRCh38)
4:2945447 (GRCh37)
Canonical SPDI:: NC_000004.12:2943719:A:G
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.2943720A>G, NC_000004.11:g.2945447A>G

Select item 148882370116.

rs1488823701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:2942649 (GRCh38)
4:2944376 (GRCh37)
Canonical SPDI:: NC_000004.12:2942648:A:T
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.2942649A>T, NC_000004.11:g.2944376A>T

Select item 148873867817.

rs1488738678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:2933831 (GRCh38)
4:2935558 (GRCh37)
Canonical SPDI:: NC_000004.12:2933830:G:A,NC_000004.12:2933830:G:T
Gene:: MFSD10 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.2933831G>A, NC_000004.12:g.2933831G>T, NC_000004.11:g.2935558G>A, NC_000004.11:g.2935558G>T, NM_001120.5:c.93C>T, NM_001120.5:c.93C>A, NM_001120.4:c.93C>T, NM_001120.4:c.93C>A, XM_005247927.4:c.93C>T, XM_005247927.4:c.93C>A, NM_001146069.2:c.93C>T, NM_001146069.2:c.93C>A, NM_001146069.1:c.93C>T, NM_001146069.1:c.93C>A, NM_001363679.2:c.93C>T, NM_001363679.2:c.93C>A, NM_001363679.1:c.93C>T, NM_001363679.1:c.93C>A, NM_001410703.1:c.93C>T, NM_001410703.1:c.93C>A, XM_047449490.1:c.93C>T, XM_047449490.1:c.93C>A, XM_047449491.1:c.93C>T, XM_047449491.1:c.93C>A

Select item 148861909118.

rs1488619091 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 4:2937537 (GRCh38)
4:2939264 (GRCh37)
Canonical SPDI:: NC_000004.12:2937533:CACCAC:CAC
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.2937534CAC[1], NC_000004.11:g.2939261CAC[1], NR_015453.2:n.1989CAC[1], NR_015453.1:n.1989CAC[1]

Select item 148848171719.

rs1488481717 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCTGT [Show Flanks]
Chromosome:: 4:2946543 (GRCh38)
4:2948271 (GRCh37)
Canonical SPDI:: NC_000004.12:2946543:GTGCCTGT:GTGCCTGTGCCTGT
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCCTGTGCCTGT=0./0 (ALFA)
GTGCCT=0.000004/1 (GnomAD_exomes)
GTGCCT=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.2946546_2946551dup, NC_000004.11:g.2948273_2948278dup, NG_083269.1:g.12_17dup

Select item 148834921820.

rs1488349218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:2938435 (GRCh38)
4:2940162 (GRCh37)
Canonical SPDI:: NC_000004.12:2938434:G:A,NC_000004.12:2938434:G:C
Gene:: NOP14 (Varview), NOP14-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.2938435G>A, NC_000004.12:g.2938435G>C, NC_000004.11:g.2940162G>A, NC_000004.11:g.2940162G>C, NM_001291978.2:c.*396C>T, NM_001291978.2:c.*396C>G, NM_001291978.1:c.*396C>T, NM_001291978.1:c.*396C>G