SNP Links for Gene (Select 692107) - SNP

Links from Gene

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Select item 14912097941.

rs1491209794 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 3:184326138 (GRCh38)
3:184043927 (GRCh37)
Canonical SPDI:: NC_000003.12:184326138:C:CTC
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
CT=0.00002/1 (GnomAD)
HGVS:: NC_000003.12:g.184326139_184326140insTC, NC_000003.11:g.184043927_184043928insTC, NG_016850.1:g.16572_16573insTC

Select item 14897491522.

rs1489749152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184324446 (GRCh38)
3:184042234 (GRCh37)
Canonical SPDI:: NC_000003.12:184324445:T:C
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.184324446T>C, NC_000003.11:g.184042234T>C, NG_016850.1:g.14879T>C

Select item 14876384103.

rs1487638410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:184324864 (GRCh38)
3:184042652 (GRCh37)
Canonical SPDI:: NC_000003.12:184324863:C:G
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.184324864C>G, NC_000003.11:g.184042652C>G, NG_016850.1:g.15297C>G

Select item 14875965624.

rs1487596562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184324354 (GRCh38)
3:184042142 (GRCh37)
Canonical SPDI:: NC_000003.12:184324353:G:A
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000003.12:g.184324354G>A, NC_000003.11:g.184042142G>A, NG_016850.1:g.14787G>A

Select item 14839754505.

rs1483975450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:184324674 (GRCh38)
3:184042462 (GRCh37)
Canonical SPDI:: NC_000003.12:184324673:C:A,NC_000003.12:184324673:C:G
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.184324674C>A, NC_000003.12:g.184324674C>G, NC_000003.11:g.184042462C>A, NC_000003.11:g.184042462C>G, NG_016850.1:g.15107C>A, NG_016850.1:g.15107C>G

Select item 14821654836.

rs1482165483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184326234 (GRCh38)
3:184044022 (GRCh37)
Canonical SPDI:: NC_000003.12:184326233:G:A
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000122/2 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.184326234G>A, NC_000003.11:g.184044022G>A, NG_016850.1:g.16667G>A

Select item 14794526757.

rs1479452675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184324579 (GRCh38)
3:184042367 (GRCh37)
Canonical SPDI:: NC_000003.12:184324578:C:T
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.184324579C>T, NC_000003.11:g.184042367C>T, NG_016850.1:g.15012C>T

Select item 14761039748.

rs1476103974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:184325401 (GRCh38)
3:184043189 (GRCh37)
Canonical SPDI:: NC_000003.12:184325400:A:G,NC_000003.12:184325400:A:T
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184325401A>G, NC_000003.12:g.184325401A>T, NC_000003.11:g.184043189A>G, NC_000003.11:g.184043189A>T, NG_016850.1:g.15834A>G, NG_016850.1:g.15834A>T

Select item 14749858199.

rs1474985819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184324329 (GRCh38)
3:184042117 (GRCh37)
Canonical SPDI:: NC_000003.12:184324328:G:A
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.184324329G>A, NC_000003.11:g.184042117G>A, NG_016850.1:g.14762G>A, NM_004953.5:c.2016G>A, NM_004953.4:c.2016G>A, NM_182917.4:c.2604G>A, NM_198241.3:c.2601G>A, NM_198241.2:c.2601G>A, NM_198244.3:c.2340G>A, NM_198244.2:c.2340G>A, NM_198242.3:c.2109G>A, NM_198242.2:c.2109G>A, NM_001291157.2:c.2481G>A, NM_001291157.1:c.2481G>A, NM_001194946.2:c.2622G>A, NM_001194946.1:c.2622G>A, NM_001194947.2:c.2622G>A, NM_001194947.1:c.2622G>A

Select item 147429352510.

rs1474293525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:184323938 (GRCh38)
3:184041726 (GRCh37)
Canonical SPDI:: NC_000003.12:184323937:C:G,NC_000003.12:184323937:C:T
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.184323938C>G, NC_000003.12:g.184323938C>T, NC_000003.11:g.184041726C>G, NC_000003.11:g.184041726C>T, NG_016850.1:g.14371C>G, NG_016850.1:g.14371C>T, NM_004953.5:c.1848C>G, NM_004953.5:c.1848C>T, NM_004953.4:c.1848C>G, NM_004953.4:c.1848C>T, NM_182917.4:c.2436C>G, NM_182917.4:c.2436C>T, NM_198241.3:c.2433C>G, NM_198241.3:c.2433C>T, NM_198241.2:c.2433C>G, NM_198241.2:c.2433C>T, NM_198244.3:c.2172C>G, NM_198244.3:c.2172C>T, NM_198244.2:c.2172C>G, NM_198244.2:c.2172C>T, NM_198242.3:c.1941C>G, NM_198242.3:c.1941C>T, NM_198242.2:c.1941C>G, NM_198242.2:c.1941C>T, NM_001291157.2:c.2313C>G, NM_001291157.2:c.2313C>T, NM_001291157.1:c.2313C>G, NM_001291157.1:c.2313C>T, NM_001194946.2:c.2454C>G, NM_001194946.2:c.2454C>T, NM_001194946.1:c.2454C>G, NM_001194946.1:c.2454C>T, NM_001194947.2:c.2454C>G, NM_001194947.2:c.2454C>T, NM_001194947.1:c.2454C>G, NM_001194947.1:c.2454C>T, NP_004944.3:p.Phe616Leu, NP_886553.3:p.Phe812Leu, NP_937884.2:p.Phe811Leu, NP_937887.2:p.Phe724Leu, NP_937885.1:p.Phe647Leu, NP_001278086.2:p.Phe771Leu, NP_001181875.2:p.Phe818Leu, NP_001181876.2:p.Phe818Leu

Select item 147233615511.

rs1472336155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:184325272 (GRCh38)
3:184043060 (GRCh37)
Canonical SPDI:: NC_000003.12:184325271:C:A,NC_000003.12:184325271:C:G
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.184325272C>A, NC_000003.12:g.184325272C>G, NC_000003.11:g.184043060C>A, NC_000003.11:g.184043060C>G, NG_016850.1:g.15705C>A, NG_016850.1:g.15705C>G, NM_004953.5:c.2275C>A, NM_004953.5:c.2275C>G, NM_004953.4:c.2275C>A, NM_004953.4:c.2275C>G, NM_182917.4:c.2863C>A, NM_182917.4:c.2863C>G, NM_198241.3:c.2860C>A, NM_198241.3:c.2860C>G, NM_198241.2:c.2860C>A, NM_198241.2:c.2860C>G, NM_198244.3:c.2599C>A, NM_198244.3:c.2599C>G, NM_198244.2:c.2599C>A, NM_198244.2:c.2599C>G, NM_198242.3:c.2368C>A, NM_198242.3:c.2368C>G, NM_198242.2:c.2368C>A, NM_198242.2:c.2368C>G, NM_001291157.2:c.2740C>A, NM_001291157.2:c.2740C>G, NM_001291157.1:c.2740C>A, NM_001291157.1:c.2740C>G, NM_001194946.2:c.2881C>A, NM_001194946.2:c.2881C>G, NM_001194946.1:c.2881C>A, NM_001194946.1:c.2881C>G, NM_001194947.2:c.2881C>A, NM_001194947.2:c.2881C>G, NM_001194947.1:c.2881C>A, NM_001194947.1:c.2881C>G, NP_004944.3:p.Arg759Gly, NP_886553.3:p.Arg955Gly, NP_937884.2:p.Arg954Gly, NP_937887.2:p.Arg867Gly, NP_937885.1:p.Arg790Gly, NP_001278086.2:p.Arg914Gly, NP_001181875.2:p.Arg961Gly, NP_001181876.2:p.Arg961Gly

Select item 146740805112.

rs1467408051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184324943 (GRCh38)
3:184042731 (GRCh37)
Canonical SPDI:: NC_000003.12:184324942:T:C
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/9 (GnomAD_exomes)
C=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.184324943T>C, NC_000003.11:g.184042731T>C, NG_016850.1:g.15376T>C, NM_004953.5:c.2100T>C, NM_004953.4:c.2100T>C, NM_182917.4:c.2688T>C, NM_198241.3:c.2685T>C, NM_198241.2:c.2685T>C, NM_198244.3:c.2424T>C, NM_198244.2:c.2424T>C, NM_198242.3:c.2193T>C, NM_198242.2:c.2193T>C, NM_001291157.2:c.2565T>C, NM_001291157.1:c.2565T>C, NM_001194946.2:c.2706T>C, NM_001194946.1:c.2706T>C, NM_001194947.2:c.2706T>C, NM_001194947.1:c.2706T>C

Select item 146690271113.

rs1466902711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:184325318 (GRCh38)
3:184043106 (GRCh37)
Canonical SPDI:: NC_000003.12:184325317:A:G
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184325318A>G, NC_000003.11:g.184043106A>G, NG_016850.1:g.15751A>G, NM_004953.5:c.2321A>G, NM_004953.4:c.2321A>G, NM_182917.4:c.2909A>G, NM_198241.3:c.2906A>G, NM_198241.2:c.2906A>G, NM_198244.3:c.2645A>G, NM_198244.2:c.2645A>G, NM_198242.3:c.2414A>G, NM_198242.2:c.2414A>G, NM_001291157.2:c.2786A>G, NM_001291157.1:c.2786A>G, NM_001194946.2:c.2927A>G, NM_001194946.1:c.2927A>G, NM_001194947.2:c.2927A>G, NM_001194947.1:c.2927A>G, NP_004944.3:p.Lys774Arg, NP_886553.3:p.Lys970Arg, NP_937884.2:p.Lys969Arg, NP_937887.2:p.Lys882Arg, NP_937885.1:p.Lys805Arg, NP_001278086.2:p.Lys929Arg, NP_001181875.2:p.Lys976Arg, NP_001181876.2:p.Lys976Arg

Select item 146622120714.

rs1466221207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:184324841 (GRCh38)
3:184042629 (GRCh37)
Canonical SPDI:: NC_000003.12:184324840:T:A
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184324841T>A, NC_000003.11:g.184042629T>A, NG_016850.1:g.15274T>A

Select item 146550705915.

rs1465507059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:184325942 (GRCh38)
3:184043730 (GRCh37)
Canonical SPDI:: NC_000003.12:184325941:G:C
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184325942G>C, NC_000003.11:g.184043730G>C, NG_016850.1:g.16375G>C, NM_004953.5:c.2628G>C, NM_004953.4:c.2628G>C, NM_182917.4:c.3216G>C, NM_198241.3:c.3213G>C, NM_198241.2:c.3213G>C, NM_198244.3:c.2952G>C, NM_198244.2:c.2952G>C, NM_198242.3:c.2721G>C, NM_198242.2:c.2721G>C, NM_001291157.2:c.3093G>C, NM_001291157.1:c.3093G>C, NM_001194946.2:c.3234G>C, NM_001194946.1:c.3234G>C, NM_001194947.2:c.3234G>C, NM_001194947.1:c.3234G>C, NP_004944.3:p.Lys876Asn, NP_886553.3:p.Lys1072Asn, NP_937884.2:p.Lys1071Asn, NP_937887.2:p.Lys984Asn, NP_937885.1:p.Lys907Asn, NP_001278086.2:p.Lys1031Asn, NP_001181875.2:p.Lys1078Asn, NP_001181876.2:p.Lys1078Asn

Select item 146439901516.

rs1464399015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:184325787 (GRCh38)
3:184043575 (GRCh37)
Canonical SPDI:: NC_000003.12:184325786:G:T
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184325787G>T, NC_000003.11:g.184043575G>T, NG_016850.1:g.16220G>T

Select item 146109165117.

rs1461091651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184325608 (GRCh38)
3:184043396 (GRCh37)
Canonical SPDI:: NC_000003.12:184325607:G:A
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_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_000003.12:g.184325608G>A, NC_000003.11:g.184043396G>A, NG_016850.1:g.16041G>A, NM_004953.5:c.2505G>A, NM_004953.4:c.2505G>A, NM_182917.4:c.3093G>A, NM_198241.3:c.3090G>A, NM_198241.2:c.3090G>A, NM_198244.3:c.2829G>A, NM_198244.2:c.2829G>A, NM_198242.3:c.2598G>A, NM_198242.2:c.2598G>A, NM_001291157.2:c.2970G>A, NM_001291157.1:c.2970G>A, NM_001194946.2:c.3111G>A, NM_001194946.1:c.3111G>A, NM_001194947.2:c.3111G>A, NM_001194947.1:c.3111G>A

Select item 145917889118.

rs1459178891 has merged into rs34901174 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:184326154 (GRCh38)
3:184043942 (GRCh37)
Canonical SPDI:: NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:184326137:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000003.12:g.184326138AC[8], NC_000003.12:g.184326138AC[9], NC_000003.12:g.184326138AC[10], NC_000003.12:g.184326138AC[11], NC_000003.12:g.184326138AC[12], NC_000003.12:g.184326138AC[13], NC_000003.12:g.184326138AC[14], NC_000003.12:g.184326138AC[15], NC_000003.12:g.184326138AC[17], NC_000003.12:g.184326138AC[18], NC_000003.12:g.184326138AC[19], NC_000003.12:g.184326138AC[20], NC_000003.12:g.184326138AC[21], NC_000003.12:g.184326138AC[22], NC_000003.12:g.184326138AC[23], NC_000003.12:g.184326138AC[24], NC_000003.12:g.184326138AC[26], NC_000003.11:g.184043926AC[8], NC_000003.11:g.184043926AC[9], NC_000003.11:g.184043926AC[10], NC_000003.11:g.184043926AC[11], NC_000003.11:g.184043926AC[12], NC_000003.11:g.184043926AC[13], NC_000003.11:g.184043926AC[14], NC_000003.11:g.184043926AC[15], NC_000003.11:g.184043926AC[17], NC_000003.11:g.184043926AC[18], NC_000003.11:g.184043926AC[19], NC_000003.11:g.184043926AC[20], NC_000003.11:g.184043926AC[21], NC_000003.11:g.184043926AC[22], NC_000003.11:g.184043926AC[23], NC_000003.11:g.184043926AC[24], NC_000003.11:g.184043926AC[26], NG_016850.1:g.16571AC[8], NG_016850.1:g.16571AC[9], NG_016850.1:g.16571AC[10], NG_016850.1:g.16571AC[11], NG_016850.1:g.16571AC[12], NG_016850.1:g.16571AC[13], NG_016850.1:g.16571AC[14], NG_016850.1:g.16571AC[15], NG_016850.1:g.16571AC[17], NG_016850.1:g.16571AC[18], NG_016850.1:g.16571AC[19], NG_016850.1:g.16571AC[20], NG_016850.1:g.16571AC[21], NG_016850.1:g.16571AC[22], NG_016850.1:g.16571AC[23], NG_016850.1:g.16571AC[24], NG_016850.1:g.16571AC[26]

Select item 145912818719.

rs1459128187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184323750 (GRCh38)
3:184041538 (GRCh37)
Canonical SPDI:: NC_000003.12:184323749:C:T
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184323750C>T, NC_000003.11:g.184041538C>T, NG_016850.1:g.14183C>T

Select item 145888551320.

rs1458885513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184324039 (GRCh38)
3:184041827 (GRCh37)
Canonical SPDI:: NC_000003.12:184324038:C:T
Gene:: EIF4G1 (Varview), SNORD66 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.184324039C>T, NC_000003.11:g.184041827C>T, NG_016850.1:g.14472C>T

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