SNP Links for Gene (Select 100873965) - SNP

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Select item 14903785231.

rs1490378523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:48079600 (GRCh38)
13:48653736 (GRCh37)
Canonical SPDI:: NC_000013.11:48079599:C:A
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48079600C>A, NC_000013.10:g.48653736C>A

Select item 14898712792.

rs1489871279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48080358 (GRCh38)
13:48654494 (GRCh37)
Canonical SPDI:: NC_000013.11:48080357:C:T
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000024/3 (GnomAD)
T=0.000531/9 (TOMMO)
T=0.006173/18 (KOREAN)
HGVS:: NC_000013.11:g.48080358C>T, NC_000013.10:g.48654494C>T

Select item 14895977293.

rs1489597729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:48078676 (GRCh38)
13:48652812 (GRCh37)
Canonical SPDI:: NC_000013.11:48078675:G:C
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48078676G>C, NC_000013.10:g.48652812G>C

Select item 14889967654.

rs1488996765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48077426 (GRCh38)
13:48651562 (GRCh37)
Canonical SPDI:: NC_000013.11:48077425:T:C
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48077426T>C, NC_000013.10:g.48651562T>C

Select item 14886788295.

rs1488678829 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14882742146.

rs1488274214 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAA>- [Show Flanks]
Chromosome:: 13:48075941 (GRCh38)
13:48650077 (GRCh37)
Canonical SPDI:: NC_000013.11:48075938:AATCAA:AA
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.48075941_48075944del, NC_000013.10:g.48650077_48650080del, NM_014166.4:c.*1197_*1200del, NM_014166.3:c.*1197_*1200del, NM_001270629.2:c.*1197_*1200del, NM_001270629.1:c.*1197_*1200del

Select item 14871202257.

rs1487120225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:48080483 (GRCh38)
13:48654619 (GRCh37)
Canonical SPDI:: NC_000013.11:48080482:C:G
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48080483C>G, NC_000013.10:g.48654619C>G

Select item 14861414638.

rs1486141463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:48080216 (GRCh38)
13:48654352 (GRCh37)
Canonical SPDI:: NC_000013.11:48080215:G:T
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48080216G>T, NC_000013.10:g.48654352G>T

Select item 14860517909.

rs1486051790 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAGCATATTA>- [Show Flanks]
Chromosome:: 13:48080460 (GRCh38)
13:48654596 (GRCh37)
Canonical SPDI:: NC_000013.11:48080454:TATTAATAGCATATTA:TATTA
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TATTA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48080460_48080470del, NC_000013.10:g.48654596_48654606del

Select item 148597036810.

rs1485970368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:48077309 (GRCh38)
13:48651445 (GRCh37)
Canonical SPDI:: NC_000013.11:48077308:C:A
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000013.11:g.48077309C>A, NC_000013.10:g.48651445C>A, NM_014166.4:c.643G>T, NM_014166.3:c.643G>T, NM_001270629.2:c.505G>T, NM_001270629.1:c.505G>T, NR_046511.1:n.173C>A, NP_054885.1:p.Val215Phe, NP_001257558.1:p.Val169Phe

Select item 148570238411.

rs1485702384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 13:48080383 (GRCh38)
13:48654519 (GRCh37)
Canonical SPDI:: NC_000013.11:48080382:C:A,NC_000013.11:48080382:C:G,NC_000013.11:48080382:C:T
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.48080383C>A, NC_000013.11:g.48080383C>G, NC_000013.11:g.48080383C>T, NC_000013.10:g.48654519C>A, NC_000013.10:g.48654519C>G, NC_000013.10:g.48654519C>T

Select item 148562813712.

rs1485628137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:48075633 (GRCh38)
13:48649769 (GRCh37)
Canonical SPDI:: NC_000013.11:48075632:A:C
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_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_000013.11:g.48075633A>C, NC_000013.10:g.48649769A>C

Select item 148544747913.

rs1485447479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48079454 (GRCh38)
13:48653590 (GRCh37)
Canonical SPDI:: NC_000013.11:48079453:C:T
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48079454C>T, NC_000013.10:g.48653590C>T

Select item 148529523414.

rs1485295234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48077236 (GRCh38)
13:48651372 (GRCh37)
Canonical SPDI:: NC_000013.11:48077235:T:C
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48077236T>C, NC_000013.10:g.48651372T>C, NM_014166.4:c.716A>G, NM_014166.3:c.716A>G, NM_001270629.2:c.578A>G, NM_001270629.1:c.578A>G, NR_046511.1:n.100T>C, NP_054885.1:p.Asp239Gly, NP_001257558.1:p.Asp193Gly

Select item 148313074915.

rs1483130749 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:48077875 (GRCh38)
13:48652011 (GRCh37)
Canonical SPDI:: NC_000013.11:48077874:G:
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.48077875del, NC_000013.10:g.48652011del

Select item 148215150716.

rs1482151507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48077419 (GRCh38)
13:48651555 (GRCh37)
Canonical SPDI:: NC_000013.11:48077418:T:C
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.48077419T>C, NC_000013.10:g.48651555T>C

Select item 148203212617.

rs1482032126 [Homo sapiens]

Variant type:: DEL
Alleles:: CTC>- [Show Flanks]
Chromosome:: 13:48077821 (GRCh38)
13:48651957 (GRCh37)
Canonical SPDI:: NC_000013.11:48077820:CTC:
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48077821_48077823del, NC_000013.10:g.48651957_48651959del

Select item 148194718718.

rs1481947187 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148145116019.

rs1481451160 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 13:48076507 (GRCh38)
13:48650643 (GRCh37)
Canonical SPDI:: NC_000013.11:48076506:AAAA:AAA
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48076510del, NC_000013.10:g.48650646del, NM_014166.4:c.*632del, NM_014166.3:c.*632del, NM_001270629.2:c.*632del, NM_001270629.1:c.*632del

Select item 148130982620.

rs1481309826 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 13:48075602 (GRCh38)
13:48649738 (GRCh37)
Canonical SPDI:: NC_000013.11:48075601:A:
Gene:: MED4 (Varview), MED4-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48075602del, NC_000013.10:g.48649738del

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