SNP Links for Gene (Select 643923) - SNP

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Select item 14904718331.

rs1490471833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:107591954 (GRCh38)
11:107462680 (GRCh37)
Canonical SPDI:: NC_000011.10:107591953:G:T
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107591954G>T, NC_000011.9:g.107462680G>T, NR_028328.1:n.210G>T, NM_001039772.1:c.197G>T

Select item 14901692362.

rs1490169236 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:107593267 (GRCh38)
11:107463994 (GRCh37)
Canonical SPDI:: NC_000011.10:107593267:AAAA:AAAAA
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.107593271dup, NC_000011.9:g.107463997dup

Select item 14895821433.

rs1489582143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:107591063 (GRCh38)
11:107461789 (GRCh37)
Canonical SPDI:: NC_000011.10:107591062:C:A,NC_000011.10:107591062:C:G
Gene:: ELMOD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.107591063C>A, NC_000011.10:g.107591063C>G, NC_000011.9:g.107461789C>A, NC_000011.9:g.107461789C>G

Select item 14888807574.

rs1488880757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:107593705 (GRCh38)
11:107464431 (GRCh37)
Canonical SPDI:: NC_000011.10:107593704:A:G
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.107593705A>G, NC_000011.9:g.107464431A>G

Select item 14875390205.

rs1487539020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:107590494 (GRCh38)
11:107461220 (GRCh37)
Canonical SPDI:: NC_000011.10:107590493:C:T
Gene:: ELMOD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.107590494C>T, NC_000011.9:g.107461220C>T

Select item 14863021926.

rs1486302192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:107591653 (GRCh38)
11:107462379 (GRCh37)
Canonical SPDI:: NC_000011.10:107591652:A:G
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.107591653A>G, NC_000011.9:g.107462379A>G

Select item 14840152397.

rs1484015239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:107591457 (GRCh38)
11:107462183 (GRCh37)
Canonical SPDI:: NC_000011.10:107591456:T:C,NC_000011.10:107591456:T:G
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107591457T>C, NC_000011.10:g.107591457T>G, NC_000011.9:g.107462183T>C, NC_000011.9:g.107462183T>G

Select item 14828735928.

rs1482873592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:107590399 (GRCh38)
11:107461125 (GRCh37)
Canonical SPDI:: NC_000011.10:107590398:T:A,NC_000011.10:107590398:T:C
Gene:: ELMOD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00025/4 (ALFA)
C=0.02542/18 (Korea1K)
C=0.12046/796 (TOMMO)
C=0.36952/1045 (KOREAN)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.107590399T>A, NC_000011.10:g.107590399T>C, NC_000011.9:g.107461125T>A, NC_000011.9:g.107461125T>C

Select item 14823726639.

rs1482372663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:107591837 (GRCh38)
11:107462563 (GRCh37)
Canonical SPDI:: NC_000011.10:107591836:C:T
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107591837C>T, NC_000011.9:g.107462563C>T, NR_028328.1:n.93C>T, NM_001039772.1:c.80C>T

Select item 148153534410.

rs1481535344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:107591826 (GRCh38)
11:107462552 (GRCh37)
Canonical SPDI:: NC_000011.10:107591825:C:A,NC_000011.10:107591825:C:T
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107591826C>A, NC_000011.10:g.107591826C>T, NC_000011.9:g.107462552C>A, NC_000011.9:g.107462552C>T, NR_028328.1:n.82C>A, NR_028328.1:n.82C>T, NM_001039772.1:c.69C>A, NM_001039772.1:c.69C>T

Select item 148055397011.

rs1480553970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:107591448 (GRCh38)
11:107462174 (GRCh37)
Canonical SPDI:: NC_000011.10:107591447:G:C
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107591448G>C, NC_000011.9:g.107462174G>C

Select item 148006543612.

rs1480065436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:107592687 (GRCh38)
11:107463413 (GRCh37)
Canonical SPDI:: NC_000011.10:107592686:T:C,NC_000011.10:107592686:T:G
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.107592687T>C, NC_000011.10:g.107592687T>G, NC_000011.9:g.107463413T>C, NC_000011.9:g.107463413T>G

Select item 148002412013.

rs1480024120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:107593359 (GRCh38)
11:107464085 (GRCh37)
Canonical SPDI:: NC_000011.10:107593358:T:G
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.107593359T>G, NC_000011.9:g.107464085T>G

Select item 147977319114.

rs1479773191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:107590153 (GRCh38)
11:107460879 (GRCh37)
Canonical SPDI:: NC_000011.10:107590150:AGAG:AG
Gene:: ELMOD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107590151AG[1], NC_000011.9:g.107460877AG[1]

Select item 147924146015.

rs1479241460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107592427 (GRCh38)
11:107463153 (GRCh37)
Canonical SPDI:: NC_000011.10:107592426:T:C
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107592427T>C, NC_000011.9:g.107463153T>C, NR_028328.1:n.364T>C, NM_001039772.1:c.351T>C

Select item 147905073716.

rs1479050737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:107590238 (GRCh38)
11:107460964 (GRCh37)
Canonical SPDI:: NC_000011.10:107590237:C:T
Gene:: ELMOD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107590238C>T, NC_000011.9:g.107460964C>T

Select item 147829625917.

rs1478296259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:107593395 (GRCh38)
11:107464121 (GRCh37)
Canonical SPDI:: NC_000011.10:107593394:A:G
Gene:: ELMOD1 (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_000011.10:g.107593395A>G, NC_000011.9:g.107464121A>G

Select item 147767207718.

rs1477672077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:107591376 (GRCh38)
11:107462102 (GRCh37)
Canonical SPDI:: NC_000011.10:107591375:G:C
Gene:: ELMOD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107591376G>C, NC_000011.9:g.107462102G>C, NM_018712.4:c.-119G>C, NM_018712.3:c.-119G>C, NM_001308018.2:c.-273G>C, NM_001308018.1:c.-273G>C, NM_001130037.2:c.-119G>C, NM_001130037.1:c.-119G>C

Select item 147753873719.

rs1477538737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:107591906 (GRCh38)
11:107462632 (GRCh37)
Canonical SPDI:: NC_000011.10:107591905:G:A
Gene:: ELMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107591906G>A, NC_000011.9:g.107462632G>A, NR_028328.1:n.162G>A, NM_001039772.1:c.149G>A

Select item 147747894120.

rs1477478941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:107592218 (GRCh38)
11:107462944 (GRCh37)
Canonical SPDI:: NC_000011.10:107592217:G:A
Gene:: ELMOD1 (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_000011.10:g.107592218G>A, NC_000011.9:g.107462944G>A

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