SNP Links for Gene (Select 51016) - SNP

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Select item 14914843181.

rs1491484318 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:24140146 (GRCh38)
14:24609355 (GRCh37)
Canonical SPDI:: NC_000014.9:24140145:AA:
Gene:: EMC9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00179/29 (ALFA)
-=0.00014/2 (TOMMO)
-=0.01619/470 (GnomAD)
HGVS:: NC_000014.9:g.24140146_24140147del, NW_018654722.1:g.441124_441125del, NC_000014.8:g.24609355_24609356del, XM_047431426.1:c.-480_-479del

Select item 14890179112.

rs1489017911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:24142470 (GRCh38)
14:24611679 (GRCh37)
Canonical SPDI:: NC_000014.9:24142469:T:G
Gene:: EMC9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00014/2 (ALFA)
HGVS:: NC_000014.9:g.24142470T>G, NG_042234.1:g.596T>G, NW_018654722.1:g.443448T>G, NC_000014.8:g.24611679T>G

Select item 14888871403.

rs1488887140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24141282 (GRCh38)
14:24610491 (GRCh37)
Canonical SPDI:: NC_000014.9:24141281:G:A
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24141282G>A, NW_018654722.1:g.442260G>A, NC_000014.8:g.24610491G>A, XM_005267721.6:c.23C>T, XM_005267721.5:c.23C>T, XM_005267721.4:c.23C>T, XM_005267721.3:c.23C>T, XM_005267721.2:c.23C>T, XM_005267721.1:c.23C>T, NM_016049.4:c.23C>T, NM_016049.3:c.23C>T, NM_001346874.2:c.-402C>T, NM_001346874.1:c.-402C>T, NM_001346875.2:c.-375C>T, NM_001346875.1:c.-375C>T, XM_047431427.1:c.23C>T, XP_005267778.1:p.Ala8Val, NP_057133.2:p.Ala8Val, XP_047287383.1:p.Ala8Val

Select item 14885838364.

rs1488583836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:24141845 (GRCh38)
14:24611054 (GRCh37)
Canonical SPDI:: NC_000014.9:24141844:T:G
Gene:: EMC9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24141845T>G, NW_018654722.1:g.442823T>G, NC_000014.8:g.24611054T>G

Select item 14883908485.

rs1488390848 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:24143257 (GRCh38)
14:24612466 (GRCh37)
Canonical SPDI:: NC_000014.9:24143256:T:
Gene:: PSME2 (Varview), EMC9 (Varview), MIR7703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24143257del, NG_042234.1:g.1383del, NW_018654722.1:g.444235del, NC_000014.8:g.24612466del

Select item 14879984256.

rs1487998425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:24144131 (GRCh38)
14:24613340 (GRCh37)
Canonical SPDI:: NC_000014.9:24144130:T:A
Gene:: PSME2 (Varview), MIR7703 (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_000014.9:g.24144131T>A, NG_042234.1:g.2257T>A, NW_018654722.1:g.445109T>A, NC_000014.8:g.24613340T>A

Select item 14878618707.

rs1487861870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:24138701 (GRCh38)
14:24607910 (GRCh37)
Canonical SPDI:: NC_000014.9:24138700:G:T
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.24138701G>T, NW_018654722.1:g.439679G>T, NC_000014.8:g.24607910G>T, NM_176783.3:c.*57G>T, NM_176783.2:c.*57G>T

Select item 14866418998.

rs1486641899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24141481 (GRCh38)
14:24610690 (GRCh37)
Canonical SPDI:: NC_000014.9:24141480:C:T
Gene:: EMC9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24141481C>T, NW_018654722.1:g.442459C>T, NC_000014.8:g.24610690C>T, XM_005267721.6:c.-177G>A, XM_005267721.5:c.-177G>A, XM_005267721.4:c.-177G>A, XM_005267721.3:c.-177G>A, XM_005267721.2:c.-177G>A, XM_005267721.1:c.-177G>A, NM_016049.4:c.-56G>A, NM_016049.3:c.-56G>A, NM_001346874.2:c.-480G>A, NM_001346874.1:c.-480G>A, NM_001346875.2:c.-453G>A, NM_001346875.1:c.-453G>A, NM_001346877.2:c.-360G>A, NM_001346877.1:c.-360G>A, NM_001346876.2:c.-333G>A, NM_001346876.1:c.-333G>A, XM_047431426.1:c.-1432G>A, XM_047431427.1:c.-177G>A

Select item 14862171319.

rs1486217131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24142991 (GRCh38)
14:24612200 (GRCh37)
Canonical SPDI:: NC_000014.9:24142990:A:G
Gene:: PSME2 (Varview), EMC9 (Varview), MIR7703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24142991A>G, NG_042234.1:g.1117A>G, NW_018654722.1:g.443969A>G, NC_000014.8:g.24612200A>G

Select item 148597881210.

rs1485978812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:24138634 (GRCh38)
14:24607843 (GRCh37)
Canonical SPDI:: NC_000014.9:24138633:C:A,NC_000014.9:24138633:C:T
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24138634C>A, NC_000014.9:g.24138634C>T, NW_018654722.1:g.439612C>A, NW_018654722.1:g.439612C>T, NC_000014.8:g.24607843C>A, NC_000014.8:g.24607843C>T, NM_176783.3:c.743C>A, NM_176783.3:c.743C>T, NM_176783.2:c.743C>A, NM_176783.2:c.743C>T, NP_788955.1:p.Ala248Asp, NP_788955.1:p.Ala248Val

Select item 148563905211.

rs1485639052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24140747 (GRCh38)
14:24609956 (GRCh37)
Canonical SPDI:: NC_000014.9:24140746:A:G
Gene:: EMC9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24140747A>G, NW_018654722.1:g.441725A>G, NC_000014.8:g.24609956A>G, XM_047431426.1:c.-1080T>C

Select item 148437216512.

rs1484372165 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 14:24138645 (GRCh38)
14:24607854 (GRCh37)
Canonical SPDI:: NC_000014.9:24138644:GGG:GG
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24138647del, NW_018654722.1:g.439625del, NC_000014.8:g.24607856del, NM_176783.3:c.*3del, NM_176783.2:c.*3del

Select item 148428645413.

rs1484286454 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:24143099 (GRCh38)
14:24612308 (GRCh37)
Canonical SPDI:: NC_000014.9:24143098:CT:
Gene:: PSME2 (Varview), EMC9 (Varview), MIR7703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.24143099_24143100del, NG_042234.1:g.1225_1226del, NW_018654722.1:g.444077_444078del, NC_000014.8:g.24612308_24612309del

Select item 148427500114.

rs1484275001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:24142265 (GRCh38)
14:24611474 (GRCh37)
Canonical SPDI:: NC_000014.9:24142264:A:C
Gene:: EMC9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.24142265A>C, NG_042234.1:g.391A>C, NW_018654722.1:g.443243A>C, NC_000014.8:g.24611474A>C

Select item 148304215615.

rs1483042156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24140984 (GRCh38)
14:24610193 (GRCh37)
Canonical SPDI:: NC_000014.9:24140983:C:T
Gene:: EMC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.24140984C>T, NW_018654722.1:g.441962C>T, NC_000014.8:g.24610193C>T

Select item 148228828016.

rs1482288280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24141972 (GRCh38)
14:24611181 (GRCh37)
Canonical SPDI:: NC_000014.9:24141971:T:C
Gene:: EMC9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24141972T>C, NG_042234.1:g.98T>C, NW_018654722.1:g.442950T>C, NC_000014.8:g.24611181T>C

Select item 148190797217.

rs1481907972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24138611 (GRCh38)
14:24607820 (GRCh37)
Canonical SPDI:: NC_000014.9:24138610:C:T
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.24138611C>T, NW_018654722.1:g.439589C>T, NC_000014.8:g.24607820C>T, NM_176783.3:c.720C>T, NM_176783.2:c.720C>T

Select item 148019970118.

rs1480199701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:24139855 (GRCh38)
14:24609064 (GRCh37)
Canonical SPDI:: NC_000014.9:24139854:G:A,NC_000014.9:24139854:G:T
Gene:: EMC9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.24139855G>A, NC_000014.9:g.24139855G>T, NW_018654722.1:g.440833G>A, NW_018654722.1:g.440833G>T, NC_000014.8:g.24609064G>A, NC_000014.8:g.24609064G>T, XM_047431426.1:c.-188C>T, XM_047431426.1:c.-188C>A

Select item 147964544119.

rs1479645441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 14:24140612 (GRCh38)
14:24609821 (GRCh37)
Canonical SPDI:: NC_000014.9:24140611:A:C,NC_000014.9:24140611:A:T
Gene:: EMC9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.24140612A>C, NC_000014.9:g.24140612A>T, NW_018654722.1:g.441590A>C, NW_018654722.1:g.441590A>T, NC_000014.8:g.24609821A>C, NC_000014.8:g.24609821A>T, XM_047431426.1:c.-945T>G, XM_047431426.1:c.-945T>A

Select item 147917915820.

rs1479179158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24139351 (GRCh38)
14:24608560 (GRCh37)
Canonical SPDI:: NC_000014.9:24139350:G:A
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.24139351G>A, NW_018654722.1:g.440329G>A, NC_000014.8:g.24608560G>A

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