SNP Links for Gene (Select 100302113) - SNP

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Links from Gene

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Select item 14910433671.

rs1491043367 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:36920654 (GRCh38)
7:36960259 (GRCh37)
Canonical SPDI:: NC_000007.14:36920652:ATA:A
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.36920654_36920655del, NC_000007.13:g.36960259_36960260del

Select item 14907599172.

rs1490759917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:36920291 (GRCh38)
7:36959896 (GRCh37)
Canonical SPDI:: NC_000007.14:36920290:T:C
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000177/3 (TOMMO)
HGVS:: NC_000007.14:g.36920291T>C, NC_000007.13:g.36959896T>C

Select item 14907508253.

rs1490750825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 7:36920956 (GRCh38)
7:36960562 (GRCh37)
Canonical SPDI:: NC_000007.14:36920956:GGAG:GGAGGAG
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGAG=0./0 (ALFA)
GGA=0.000004/1 (TOPMED)
GGA=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.36920958_36920960dup, NC_000007.13:g.36960563_36960565dup

Select item 14903004434.

rs1490300443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:36920189 (GRCh38)
7:36959794 (GRCh37)
Canonical SPDI:: NC_000007.14:36920188:C:A,NC_000007.14:36920188:C:T
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.36920189C>A, NC_000007.14:g.36920189C>T, NC_000007.13:g.36959794C>A, NC_000007.13:g.36959794C>T

Select item 14887796075.

rs1488779607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:36919603 (GRCh38)
7:36959208 (GRCh37)
Canonical SPDI:: NC_000007.14:36919602:G:A
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_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_000007.14:g.36919603G>A, NC_000007.13:g.36959208G>A

Select item 14865161806.

rs1486516180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:36918886 (GRCh38)
7:36958491 (GRCh37)
Canonical SPDI:: NC_000007.14:36918885:T:G
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,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_000007.14:g.36918886T>G, NC_000007.13:g.36958491T>G

Select item 14863317617.

rs1486331761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:36919615 (GRCh38)
7:36959220 (GRCh37)
Canonical SPDI:: NC_000007.14:36919614:G:A
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000053/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000223/1 (Estonian)
A=0.008333/5 (NorthernSweden)
HGVS:: NC_000007.14:g.36919615G>A, NC_000007.13:g.36959220G>A

Select item 14854587268.

rs1485458726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:36919696 (GRCh38)
7:36959301 (GRCh37)
Canonical SPDI:: NC_000007.14:36919695:T:C
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.36919696T>C, NC_000007.13:g.36959301T>C

Select item 14843221239.

rs1484322123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:36919844 (GRCh38)
7:36959449 (GRCh37)
Canonical SPDI:: NC_000007.14:36919843:T:G
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.36919844T>G, NC_000007.13:g.36959449T>G

Select item 148154411210.

rs1481544112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:36921418 (GRCh38)
7:36961023 (GRCh37)
Canonical SPDI:: NC_000007.14:36921417:T:G
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.36921418T>G, NC_000007.13:g.36961023T>G

Select item 147959270611.

rs1479592706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:36921006 (GRCh38)
7:36960611 (GRCh37)
Canonical SPDI:: NC_000007.14:36921005:A:T
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.36921006A>T, NC_000007.13:g.36960611A>T

Select item 147904490412.

rs1479044904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:36920327 (GRCh38)
7:36959932 (GRCh37)
Canonical SPDI:: NC_000007.14:36920326:T:C
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.36920327T>C, NC_000007.13:g.36959932T>C

Select item 147771926313.

rs1477719263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:36920144 (GRCh38)
7:36959749 (GRCh37)
Canonical SPDI:: NC_000007.14:36920143:C:T
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.36920144C>T, NC_000007.13:g.36959749C>T

Select item 147740915414.

rs1477409154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:36920678 (GRCh38)
7:36960283 (GRCh37)
Canonical SPDI:: NC_000007.14:36920677:C:T
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.36920678C>T, NC_000007.13:g.36960283C>T

Select item 147735836515.

rs1477358365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:36920638 (GRCh38)
7:36960243 (GRCh37)
Canonical SPDI:: NC_000007.14:36920637:A:C
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.36920638A>C, NC_000007.13:g.36960243A>C

Select item 147704023716.

rs1477040237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:36921049 (GRCh38)
7:36960654 (GRCh37)
Canonical SPDI:: NC_000007.14:36921048:A:T
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.36921049A>T, NC_000007.13:g.36960654A>T

Select item 147222161117.

rs1472221611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:36921252 (GRCh38)
7:36960857 (GRCh37)
Canonical SPDI:: NC_000007.14:36921251:G:C
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.36921252G>C, NC_000007.13:g.36960857G>C

Select item 147069132118.

rs1470691321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:36919910 (GRCh38)
7:36959515 (GRCh37)
Canonical SPDI:: NC_000007.14:36919909:C:G
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.36919910C>G, NC_000007.13:g.36959515C>G

Select item 147036313719.

rs1470363137 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGTA>- [Show Flanks]
Chromosome:: 7:36919034 (GRCh38)
7:36958639 (GRCh37)
Canonical SPDI:: NC_000007.14:36919031:TAAAGTA:TA
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.36919034_36919038del, NC_000007.13:g.36958639_36958643del

Select item 147026751520.

rs1470267515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:36920845 (GRCh38)
7:36960450 (GRCh37)
Canonical SPDI:: NC_000007.14:36920844:T:C,NC_000007.14:36920844:T:G
Gene:: ELMO1 (Varview), MIR1200 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.36920845T>C, NC_000007.14:g.36920845T>G, NC_000007.13:g.36960450T>C, NC_000007.13:g.36960450T>G