SNP Links for Gene (Select 56955) - SNP

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Items: 1 to 20 of 5993

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Select item 14914103471.

rs1491410347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:87836413 (GRCh38)
4:88757565 (GRCh37)
Canonical SPDI:: NC_000004.12:87836410:ATAT:AT
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000084/1 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000135/18 (GnomAD)
-=0.000136/36 (TOPMED)
-=0.001562/10 (1000Genomes)
-=0.002183/4 (Korea1K)
HGVS:: NC_000004.12:g.87836411AT[1], NC_000004.11:g.88757563AT[1], NG_034073.1:g.20014AT[1]

Select item 14912191592.

rs1491219159 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:87836411 (GRCh38)
4:88757564 (GRCh37)
Canonical SPDI:: NC_000004.12:87836411:T:TGT
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.87836412_87836413insGT, NC_000004.11:g.88757564_88757565insGT, NG_034073.1:g.20015_20016insGT

Select item 14910644693.

rs1491064469 has merged into rs35526382 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:87826235 (GRCh38)
4:88747387 (GRCh37)
Canonical SPDI:: NC_000004.12:87826224:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:87826224:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:87826224:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:87826224:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:87826224:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:87826224:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3558/1558 (1000Genomes)
HGVS:: NC_000004.12:g.87826235_87826237del, NC_000004.12:g.87826236_87826237del, NC_000004.12:g.87826237del, NC_000004.12:g.87826237dup, NC_000004.12:g.87826236_87826237dup, NC_000004.12:g.87826235_87826237dup, NC_000004.11:g.88747387_88747389del, NC_000004.11:g.88747388_88747389del, NC_000004.11:g.88747389del, NC_000004.11:g.88747389dup, NC_000004.11:g.88747388_88747389dup, NC_000004.11:g.88747387_88747389dup, NG_034073.1:g.9838_9840del, NG_034073.1:g.9839_9840del, NG_034073.1:g.9840del, NG_034073.1:g.9840dup, NG_034073.1:g.9839_9840dup, NG_034073.1:g.9838_9840dup

Select item 14908546114.

rs1490854611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:87834571 (GRCh38)
4:88755723 (GRCh37)
Canonical SPDI:: NC_000004.12:87834570:C:T
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87834571C>T, NC_000004.11:g.88755723C>T, NG_034073.1:g.18174C>T

Select item 14905035895.

rs1490503589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87823151 (GRCh38)
4:88744303 (GRCh37)
Canonical SPDI:: NC_000004.12:87823150:T:C
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.87823151T>C, NC_000004.11:g.88744303T>C, NG_034073.1:g.6754T>C

Select item 14902978536.

rs1490297853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:87824663 (GRCh38)
4:88745815 (GRCh37)
Canonical SPDI:: NC_000004.12:87824662:G:T
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.87824663G>T, NC_000004.11:g.88745815G>T, NG_034073.1:g.8266G>T

Select item 14902309057.

rs1490230905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87840364 (GRCh38)
4:88761516 (GRCh37)
Canonical SPDI:: NC_000004.12:87840363:A:G
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.87840364A>G, NC_000004.11:g.88761516A>G, NG_034073.1:g.23967A>G

Select item 14901579938.

rs1490157993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87832262 (GRCh38)
4:88753414 (GRCh37)
Canonical SPDI:: NC_000004.12:87832261:A:G
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000004.12:g.87832262A>G, NC_000004.11:g.88753414A>G, NG_034073.1:g.15865A>G

Select item 14900000979.

rs1490000097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87832853 (GRCh38)
4:88754005 (GRCh37)
Canonical SPDI:: NC_000004.12:87832852:T:C
Gene:: MEPE (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=0.000008/2 (TOPMED)
C=0.00092/15 (TOMMO)
HGVS:: NC_000004.12:g.87832853T>C, NC_000004.11:g.88754005T>C, NG_034073.1:g.16456T>C

Select item 148972742810.

rs1489727428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:87831189 (GRCh38)
4:88752341 (GRCh37)
Canonical SPDI:: NC_000004.12:87831188:G:A,NC_000004.12:87831188:G:C
Gene:: MEPE (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=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.87831189G>A, NC_000004.12:g.87831189G>C, NC_000004.11:g.88752341G>A, NC_000004.11:g.88752341G>C, NG_034073.1:g.14792G>A, NG_034073.1:g.14792G>C

Select item 148951844111.

rs1489518441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:87822129 (GRCh38)
4:88743281 (GRCh37)
Canonical SPDI:: NC_000004.12:87822128:C:T
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.87822129C>T, NC_000004.11:g.88743281C>T, NG_034073.1:g.5732C>T

Select item 148946742112.

rs1489467421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:87821535 (GRCh38)
4:88742687 (GRCh37)
Canonical SPDI:: NC_000004.12:87821534:G:C
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87821535G>C, NC_000004.11:g.88742687G>C, NG_034073.1:g.5138G>C

Select item 148927899013.

rs1489278990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:87832148 (GRCh38)
4:88753300 (GRCh37)
Canonical SPDI:: NC_000004.12:87832147:C:T
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.87832148C>T, NC_000004.11:g.88753300C>T, NG_034073.1:g.15751C>T

Select item 148921591014.

rs1489215910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:87846014 (GRCh38)
4:88767166 (GRCh37)
Canonical SPDI:: NC_000004.12:87846013:A:T
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.87846014A>T, NC_000004.11:g.88767166A>T, NG_034073.1:g.29617A>T, NM_020203.6:c.1146A>T, NM_020203.5:c.1146A>T, NM_020203.4:c.1146A>T, NM_020203.3:c.1146A>T, NM_001184695.4:c.807A>T, NM_001184695.3:c.807A>T, NM_001184695.2:c.807A>T, NM_001184695.1:c.807A>T, NM_001184694.3:c.1146A>T, NM_001184694.2:c.1146A>T, NM_001184694.1:c.1146A>T, NM_001184697.2:c.807A>T, NM_001184697.1:c.807A>T, NM_001184696.2:c.807A>T, NM_001184696.1:c.807A>T, NM_001291183.2:c.1239A>T, NM_001291183.1:c.1239A>T, NP_064588.1:p.Lys382Asn, NP_001171624.1:p.Lys269Asn, NP_001171623.1:p.Lys382Asn, NP_001171626.1:p.Lys269Asn, NP_001171625.1:p.Lys269Asn, NP_001278112.1:p.Lys413Asn

Select item 148903550515.

rs1489035505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87840980 (GRCh38)
4:88762132 (GRCh37)
Canonical SPDI:: NC_000004.12:87840979:T:C
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.87840980T>C, NC_000004.11:g.88762132T>C, NG_034073.1:g.24583T>C

Select item 148885416716.

rs1488854167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87824202 (GRCh38)
4:88745354 (GRCh37)
Canonical SPDI:: NC_000004.12:87824201:G:A
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87824202G>A, NC_000004.11:g.88745354G>A, NG_034073.1:g.7805G>A

Select item 148883582617.

rs1488835826 has merged into rs1000326586 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:87825695 (GRCh38)
4:88746847 (GRCh37)
Canonical SPDI:: NC_000004.12:87825694:TTTTTTT:TTTTTT,NC_000004.12:87825694:TTTTTTT:TTTTTTTT
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000086/12 (GnomAD)
-=0.000094/25 (TOPMED)
HGVS:: NC_000004.12:g.87825701del, NC_000004.12:g.87825701dup, NC_000004.11:g.88746853del, NC_000004.11:g.88746853dup, NG_034073.1:g.9304del, NG_034073.1:g.9304dup

Select item 148873986618.

rs1488739866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:87842733 (GRCh38)
4:88763885 (GRCh37)
Canonical SPDI:: NC_000004.12:87842732:G:C
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.87842733G>C, NC_000004.11:g.88763885G>C, NG_034073.1:g.26336G>C

Select item 148870113719.

rs1488701137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87839852 (GRCh38)
4:88761004 (GRCh37)
Canonical SPDI:: NC_000004.12:87839851:G:A
Gene:: MEPE (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_000004.12:g.87839852G>A, NC_000004.11:g.88761004G>A, NG_034073.1:g.23455G>A

Select item 148857204020.

rs1488572040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87825382 (GRCh38)
4:88746534 (GRCh37)
Canonical SPDI:: NC_000004.12:87825381:A:G
Gene:: MEPE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000004.12:g.87825382A>G, NC_000004.11:g.88746534A>G, NG_034073.1:g.8985A>G

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