SNP Links for Gene (Select 340900) - SNP

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Select item 14891086331.

rs1489108633 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTACCATGT>- [Show Flanks]
Chromosome:: 10:22211910 (GRCh38)
10:22500839 (GRCh37)
Canonical SPDI:: NC_000010.11:22211906:TGTTTTACCATGT:TGT
Gene:: EBLN1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000010.11:g.22211910_22211919del, NC_000010.10:g.22500839_22500848del

Select item 14889066092.

rs1488906609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:22208488 (GRCh38)
10:22497417 (GRCh37)
Canonical SPDI:: NC_000010.11:22208487:A:G
Gene:: EBLN1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.22208488A>G, NC_000010.10:g.22497417A>G, NM_001199938.2:c.*395T>C, NM_001394757.1:c.*395T>C

Select item 14886720633.

rs1488672063 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:22209351 (GRCh38)
10:22498280 (GRCh37)
Canonical SPDI:: NC_000010.11:22209350:AAA:AA
Gene:: EBLN1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.22209353del, NC_000010.10:g.22498282del, NM_001199938.2:c.633del, NM_001199938.1:c.633del, NM_001394757.1:c.633del, NP_001186867.1:p.Phe211fs, NP_001381686.1:p.Phe211fs

Select item 14868435714.

rs1486843571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:22208799 (GRCh38)
10:22497728 (GRCh37)
Canonical SPDI:: NC_000010.11:22208798:G:C
Gene:: EBLN1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.22208799G>C, NC_000010.10:g.22497728G>C, NM_001199938.2:c.*84C>G, NM_001394757.1:c.*84C>G

Select item 14867264045.

rs1486726404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:22208359 (GRCh38)
10:22497288 (GRCh37)
Canonical SPDI:: NC_000010.11:22208358:G:A
Gene:: EBLN1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.22208359G>A, NC_000010.10:g.22497288G>A

Select item 14866043356.

rs1486604335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:22210104 (GRCh38)
10:22499033 (GRCh37)
Canonical SPDI:: NC_000010.11:22210103:T:C
Gene:: EBLN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000010.11:g.22210104T>C, NC_000010.10:g.22499033T>C, NM_001199938.2:c.-121A>G

Select item 14863558377.

rs1486355837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:22209605 (GRCh38)
10:22498534 (GRCh37)
Canonical SPDI:: NC_000010.11:22209604:T:C
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.22209605T>C, NC_000010.10:g.22498534T>C, NM_001199938.2:c.379A>G, NM_001199938.1:c.379A>G, NM_001394757.1:c.379A>G, NP_001186867.1:p.Thr127Ala, NP_001381686.1:p.Thr127Ala

Select item 14853749068.

rs1485374906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:22209273 (GRCh38)
10:22498202 (GRCh37)
Canonical SPDI:: NC_000010.11:22209272:G:A,NC_000010.11:22209272:G:T
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.22209273G>A, NC_000010.11:g.22209273G>T, NC_000010.10:g.22498202G>A, NC_000010.10:g.22498202G>T, NM_001199938.2:c.711C>T, NM_001199938.2:c.711C>A, NM_001199938.1:c.711C>T, NM_001199938.1:c.711C>A, NM_001394757.1:c.711C>T, NM_001394757.1:c.711C>A, NP_001186867.1:p.Tyr237Ter, NP_001381686.1:p.Tyr237Ter

Select item 14852981469.

rs1485298146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:22211208 (GRCh38)
10:22500137 (GRCh37)
Canonical SPDI:: NC_000010.11:22211207:T:C
Gene:: EBLN1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.22211208T>C, NC_000010.10:g.22500137T>C

Select item 148527391810.

rs1485273918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:22208966 (GRCh38)
10:22497895 (GRCh37)
Canonical SPDI:: NC_000010.11:22208965:C:A,NC_000010.11:22208965:C:T
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.22208966C>A, NC_000010.11:g.22208966C>T, NC_000010.10:g.22497895C>A, NC_000010.10:g.22497895C>T, NM_001199938.2:c.1018G>T, NM_001199938.2:c.1018G>A, NM_001199938.1:c.1018G>T, NM_001199938.1:c.1018G>A, NM_001394757.1:c.1018G>T, NM_001394757.1:c.1018G>A, NP_001186867.1:p.Ala340Ser, NP_001186867.1:p.Ala340Thr, NP_001381686.1:p.Ala340Ser, NP_001381686.1:p.Ala340Thr

Select item 148499055011.

rs1484990550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:22210724 (GRCh38)
10:22499653 (GRCh37)
Canonical SPDI:: NC_000010.11:22210723:A:G
Gene:: EBLN1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.22210724A>G, NC_000010.10:g.22499653A>G

Select item 148438453112.

rs1484384531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:22208851 (GRCh38)
10:22497780 (GRCh37)
Canonical SPDI:: NC_000010.11:22208850:T:A,NC_000010.11:22208850:T:C
Gene:: EBLN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.22208851T>A, NC_000010.11:g.22208851T>C, NC_000010.10:g.22497780T>A, NC_000010.10:g.22497780T>C, NM_001199938.2:c.*32A>T, NM_001199938.2:c.*32A>G, NM_001199938.1:c.*32A>T, NM_001199938.1:c.*32A>G, NM_001394757.1:c.*32A>T, NM_001394757.1:c.*32A>G

Select item 148329903813.

rs1483299038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:22211588 (GRCh38)
10:22500517 (GRCh37)
Canonical SPDI:: NC_000010.11:22211587:T:A
Gene:: EBLN1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000010.11:g.22211588T>A, NC_000010.10:g.22500517T>A

Select item 148170079614.

rs1481700796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:22209901 (GRCh38)
10:22498830 (GRCh37)
Canonical SPDI:: NC_000010.11:22209900:C:T
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.22209901C>T, NC_000010.10:g.22498830C>T, NM_001199938.2:c.83G>A, NM_001199938.1:c.83G>A, NM_001394757.1:c.83G>A, NP_001186867.1:p.Gly28Glu, NP_001381686.1:p.Gly28Glu

Select item 147981721715.

rs1479817217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:22209192 (GRCh38)
10:22498121 (GRCh37)
Canonical SPDI:: NC_000010.11:22209191:A:G
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.22209192A>G, NC_000010.10:g.22498121A>G, NM_001199938.2:c.792T>C, NM_001199938.1:c.792T>C, NM_001394757.1:c.792T>C

Select item 147968549616.

rs1479685496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:22210013 (GRCh38)
10:22498942 (GRCh37)
Canonical SPDI:: NC_000010.11:22210012:C:A,NC_000010.11:22210012:C:G,NC_000010.11:22210012:C:T
Gene:: EBLN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000021/1 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.22210013C>A, NC_000010.11:g.22210013C>G, NC_000010.11:g.22210013C>T, NC_000010.10:g.22498942C>A, NC_000010.10:g.22498942C>G, NC_000010.10:g.22498942C>T, NM_001199938.2:c.-30G>T, NM_001199938.2:c.-30G>C, NM_001199938.2:c.-30G>A, NM_001394757.1:c.-30G>T, NM_001394757.1:c.-30G>C, NM_001394757.1:c.-30G>A

Select item 147825433917.

rs1478254339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:22208891 (GRCh38)
10:22497820 (GRCh37)
Canonical SPDI:: NC_000010.11:22208890:A:C
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.22208891A>C, NC_000010.10:g.22497820A>C, NM_001199938.2:c.1093T>G, NM_001199938.1:c.1093T>G, NM_001394757.1:c.1093T>G, NP_001186867.1:p.Phe365Val, NP_001381686.1:p.Phe365Val

Select item 147682585818.

rs1476825858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:22208345 (GRCh38)
10:22497274 (GRCh37)
Canonical SPDI:: NC_000010.11:22208344:C:T
Gene:: EBLN1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000010.11:g.22208345C>T, NC_000010.10:g.22497274C>T

Select item 147671382419.

rs1476713824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:22209560 (GRCh38)
10:22498489 (GRCh37)
Canonical SPDI:: NC_000010.11:22209559:C:T
Gene:: EBLN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.22209560C>T, NC_000010.10:g.22498489C>T, NM_001199938.2:c.424G>A, NM_001199938.1:c.424G>A, NM_001394757.1:c.424G>A, NP_001186867.1:p.Asp142Asn, NP_001381686.1:p.Asp142Asn

Select item 147637420420.

rs1476374204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:22210142 (GRCh38)
10:22499071 (GRCh37)
Canonical SPDI:: NC_000010.11:22210141:G:A
Gene:: EBLN1 (Varview)
Functional Consequence:: 5_prime_UTR_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_000010.11:g.22210142G>A, NC_000010.10:g.22499071G>A, NM_001199938.2:c.-159C>T

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