SNP Links for Gene (Select 9694) - SNP

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Select item 14914713971.

rs1491471397 has merged into rs1554617756 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 8:108459739 (GRCh38)
8:109471968 (GRCh37)
Canonical SPDI:: NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:108459721:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.005312/1406 (TOPMED)
HGVS:: NC_000008.11:g.108459723TG[8], NC_000008.11:g.108459723TG[9], NC_000008.11:g.108459723TG[10], NC_000008.11:g.108459723TG[11], NC_000008.11:g.108459723TG[12], NC_000008.11:g.108459723TG[13], NC_000008.11:g.108459723TG[14], NC_000008.11:g.108459723TG[15], NC_000008.11:g.108459723TG[17], NC_000008.11:g.108459723TG[18], NC_000008.11:g.108459723TG[19], NC_000008.11:g.108459723TG[20], NC_000008.11:g.108459723TG[21], NC_000008.11:g.108459723TG[22], NC_000008.11:g.108459723TG[23], NC_000008.10:g.109471952TG[8], NC_000008.10:g.109471952TG[9], NC_000008.10:g.109471952TG[10], NC_000008.10:g.109471952TG[11], NC_000008.10:g.109471952TG[12], NC_000008.10:g.109471952TG[13], NC_000008.10:g.109471952TG[14], NC_000008.10:g.109471952TG[15], NC_000008.10:g.109471952TG[17], NC_000008.10:g.109471952TG[18], NC_000008.10:g.109471952TG[19], NC_000008.10:g.109471952TG[20], NC_000008.10:g.109471952TG[21], NC_000008.10:g.109471952TG[22], NC_000008.10:g.109471952TG[23]

Select item 14914387212.

rs1491438721 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:108458613 (GRCh38)
8:109470842 (GRCh37)
Canonical SPDI:: NC_000008.11:108458612:AG:
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.108458613_108458614del, NC_000008.10:g.109470842_109470843del

Select item 14913944363.

rs1491394436 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGTGCATGTGTGTGT,GTGTGTGTGCCTGTGTGTGT [Show Flanks]
Chromosome:: 8:108462221 (GRCh38)
8:109474451 (GRCh37)
Canonical SPDI:: NC_000008.11:108462221:TGTGTGTGT:TGTGTGTGTGTGTGTGTGCATGTGTGTGT,NC_000008.11:108462221:TGTGTGTGT:TGTGTGTGTGTGTGTGTGCCTGTGTGTGT
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGCCTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTGTGTGTGTGCC=0.000008/2 (TOPMED)
TGTGTGTGTGTGTGTGTGCA=0.000011/1 (GnomAD)
HGVS:: NC_000008.11:g.108462222_108462230TG[9]CATGTGTGTGT[1], NC_000008.11:g.108462222_108462230TG[9]CCTGTGTGTGT[1], NC_000008.10:g.109474451_109474459TG[9]CATGTGTGTGT[1], NC_000008.10:g.109474451_109474459TG[9]CCTGTGTGTGT[1]

Select item 14911392824.

rs1491139282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:108458613 (GRCh38)
8:109470843 (GRCh37)
Canonical SPDI:: NC_000008.11:108458613:GGGGG:GGGGGG
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.108458618dup, NC_000008.10:g.109470847dup

Select item 14911266755.

rs1491126675 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:108462200 (GRCh38)
8:109474430 (GRCh37)
Canonical SPDI:: NC_000008.11:108462200:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.108462202GT[6], NC_000008.10:g.109474431GT[6]

Select item 14910376806.

rs1491037680 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 8:108442450 (GRCh38)
8:109454680 (GRCh37)
Canonical SPDI:: NC_000008.11:108442450:AG:AGAG
Gene:: EMC2 (Varview), LOC105375704 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: AG=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.108442451_108442452dup, NC_000008.10:g.109454680_109454681dup

Select item 14909134427.

rs1490913442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:108451947 (GRCh38)
8:109464176 (GRCh37)
Canonical SPDI:: NC_000008.11:108451946:C:T
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.108451947C>T, NC_000008.10:g.109464176C>T

Select item 14908490098.

rs1490849009 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:108485632 (GRCh38)
8:109497861 (GRCh37)
Canonical SPDI:: NC_000008.11:108485629:TTTT:TT
Gene:: EMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.108485632_108485633del, NC_000008.10:g.109497861_109497862del

Select item 14907691849.

rs1490769184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:108458848 (GRCh38)
8:109471077 (GRCh37)
Canonical SPDI:: NC_000008.11:108458847:A:G
Gene:: EMC2 (Varview)
Functional Consequence:: intron_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_000008.11:g.108458848A>G, NC_000008.10:g.109471077A>G

Select item 149064772310.

rs1490647723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:108455854 (GRCh38)
8:109468083 (GRCh37)
Canonical SPDI:: NC_000008.11:108455853:T:C
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.108455854T>C, NC_000008.10:g.109468083T>C

Select item 149064247911.

rs1490642479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:108457488 (GRCh38)
8:109469717 (GRCh37)
Canonical SPDI:: NC_000008.11:108457487:G:A
Gene:: EMC2 (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_000008.11:g.108457488G>A, NC_000008.10:g.109469717G>A

Select item 149063538812.

rs1490635388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:108471677 (GRCh38)
8:109483906 (GRCh37)
Canonical SPDI:: NC_000008.11:108471676:T:G
Gene:: EMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000008.11:g.108471677T>G, NC_000008.10:g.109483906T>G

Select item 149056890613.

rs1490568906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:108472695 (GRCh38)
8:109484924 (GRCh37)
Canonical SPDI:: NC_000008.11:108472694:G:A,NC_000008.11:108472694:G:C
Gene:: EMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.108472695G>A, NC_000008.11:g.108472695G>C, NC_000008.10:g.109484924G>A, NC_000008.10:g.109484924G>C

Select item 149048661614.

rs1490486616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:108488134 (GRCh38)
8:109500363 (GRCh37)
Canonical SPDI:: NC_000008.11:108488133:A:C
Gene:: EMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.108488134A>C, NC_000008.10:g.109500363A>C, NM_014673.5:c.*1536A>C, NM_014673.4:c.*1536A>C, NM_001329495.2:c.*1536A>C, NM_001329495.1:c.*1536A>C, NM_001329493.2:c.*1536A>C, NM_001329493.1:c.*1536A>C, NR_138033.2:n.2407A>C, NR_138033.1:n.2448A>C

Select item 149030746315.

rs1490307463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:108472589 (GRCh38)
8:109484818 (GRCh37)
Canonical SPDI:: NC_000008.11:108472588:G:A
Gene:: EMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000008.11:g.108472589G>A, NC_000008.10:g.109484818G>A

Select item 149028008016.

rs1490280080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:108459174 (GRCh38)
8:109471403 (GRCh37)
Canonical SPDI:: NC_000008.11:108459173:A:G
Gene:: EMC2 (Varview)
Functional Consequence:: intron_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_000008.11:g.108459174A>G, NC_000008.10:g.109471403A>G

Select item 149025759117.

rs1490257591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:108473560 (GRCh38)
8:109485789 (GRCh37)
Canonical SPDI:: NC_000008.11:108473559:C:A
Gene:: EMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.108473560C>A, NC_000008.10:g.109485789C>A

Select item 149008488118.

rs1490084881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:108452447 (GRCh38)
8:109464676 (GRCh37)
Canonical SPDI:: NC_000008.11:108452446:G:A
Gene:: EMC2 (Varview)
Functional Consequence:: intron_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_000008.11:g.108452447G>A, NC_000008.10:g.109464676G>A

Select item 149005139219.

rs1490051392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:108465960 (GRCh38)
8:109478189 (GRCh37)
Canonical SPDI:: NC_000008.11:108465959:A:G
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.108465960A>G, NC_000008.10:g.109478189A>G

Select item 148988921820.

rs1489889218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:108465531 (GRCh38)
8:109477760 (GRCh37)
Canonical SPDI:: NC_000008.11:108465530:T:C
Gene:: EMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.108465531T>C, NC_000008.10:g.109477760T>C

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