SNP Links for Gene (Select 157773) - SNP

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Links from Gene

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Select item 14909486771.

rs1490948677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:13568412 (GRCh38)
8:13425921 (GRCh37)
Canonical SPDI:: NC_000008.11:13568411:T:A
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.13568412T>A, NC_000008.10:g.13425921T>A, NG_015998.2:g.41194A>T

Select item 14908575562.

rs1490857556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:13567709 (GRCh38)
8:13425218 (GRCh37)
Canonical SPDI:: NC_000008.11:13567708:T:C
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000019/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.13567709T>C, NC_000008.10:g.13425218T>C, NG_015998.2:g.41897A>G, NM_001007090.3:c.718T>C, NM_001007090.2:c.718T>C, NM_152567.1:c.718T>C, NP_001007091.2:p.Phe240Leu

Select item 14904611463.

rs1490461146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:13568090 (GRCh38)
8:13425599 (GRCh37)
Canonical SPDI:: NC_000008.11:13568089:G:C
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.13568090G>C, NC_000008.10:g.13425599G>C, NG_015998.2:g.41516C>G, NM_001007090.3:c.*139G>C, NM_001007090.2:c.*139G>C, NM_152567.1:c.*139G>C

Select item 14903630474.

rs1490363047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:13567442 (GRCh38)
8:13424951 (GRCh37)
Canonical SPDI:: NC_000008.11:13567441:C:T
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.13567442C>T, NC_000008.10:g.13424951C>T, NG_015998.2:g.42164G>A, NM_001007090.3:c.451C>T, NM_001007090.2:c.451C>T, NM_152567.1:c.451C>T, NP_001007091.2:p.His151Tyr

Select item 14893988435.

rs1489398843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:13567077 (GRCh38)
8:13424586 (GRCh37)
Canonical SPDI:: NC_000008.11:13567076:C:G
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.13567077C>G, NC_000008.10:g.13424586C>G, NG_015998.2:g.42529G>C, NM_001007090.3:c.86C>G, NM_001007090.2:c.86C>G, NM_152567.1:c.86C>G, NP_001007091.2:p.Thr29Ser

Select item 14883448236.

rs1488344823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:13566445 (GRCh38)
8:13423954 (GRCh37)
Canonical SPDI:: NC_000008.11:13566444:T:C
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000008.11:g.13566445T>C, NC_000008.10:g.13423954T>C, NG_015998.2:g.43161A>G

Select item 14880169167.

rs1488016916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:13568034 (GRCh38)
8:13425543 (GRCh37)
Canonical SPDI:: NC_000008.11:13568033:A:G,NC_000008.11:13568033:A:T
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.13568034A>G, NC_000008.11:g.13568034A>T, NC_000008.10:g.13425543A>G, NC_000008.10:g.13425543A>T, NG_015998.2:g.41572T>C, NG_015998.2:g.41572T>A, NM_001007090.3:c.*83A>G, NM_001007090.3:c.*83A>T, NM_001007090.2:c.*83A>G, NM_001007090.2:c.*83A>T, NM_152567.1:c.*83A>G, NM_152567.1:c.*83A>T

Select item 14876188478.

rs1487618847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:13565203 (GRCh38)
8:13422712 (GRCh37)
Canonical SPDI:: NC_000008.11:13565202:C:G
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.13565203C>G, NC_000008.10:g.13422712C>G, NG_015998.2:g.44403G>C

Select item 14868464569.

rs1486846456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:13566100 (GRCh38)
8:13423609 (GRCh37)
Canonical SPDI:: NC_000008.11:13566099:T:G
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.13566100T>G, NC_000008.10:g.13423609T>G, NG_015998.2:g.43506A>C

Select item 148654545910.

rs1486545459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:13568098 (GRCh38)
8:13425607 (GRCh37)
Canonical SPDI:: NC_000008.11:13568097:T:A
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.13568098T>A, NC_000008.10:g.13425607T>A, NG_015998.2:g.41508A>T, NM_001007090.3:c.*147T>A, NM_001007090.2:c.*147T>A, NM_152567.1:c.*147T>A

Select item 148643826111.

rs1486438261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:13566283 (GRCh38)
8:13423792 (GRCh37)
Canonical SPDI:: NC_000008.11:13566282:T:C
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.13566283T>C, NC_000008.10:g.13423792T>C, NG_015998.2:g.43323A>G

Select item 148591367112.

rs1485913671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:13568547 (GRCh38)
8:13426056 (GRCh37)
Canonical SPDI:: NC_000008.11:13568546:C:A,NC_000008.11:13568546:C:G
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.13568547C>A, NC_000008.11:g.13568547C>G, NC_000008.10:g.13426056C>A, NC_000008.10:g.13426056C>G, NG_015998.2:g.41059G>T, NG_015998.2:g.41059G>C

Select item 148562329913.

rs1485623299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:13565782 (GRCh38)
8:13423291 (GRCh37)
Canonical SPDI:: NC_000008.11:13565781:G:C,NC_000008.11:13565781:G:T
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.13565782G>C, NC_000008.11:g.13565782G>T, NC_000008.10:g.13423291G>C, NC_000008.10:g.13423291G>T, NG_015998.2:g.43824C>G, NG_015998.2:g.43824C>A

Select item 148464388214.

rs1484643882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:13565486 (GRCh38)
8:13422995 (GRCh37)
Canonical SPDI:: NC_000008.11:13565485:C:T
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.13565486C>T, NC_000008.10:g.13422995C>T, NG_015998.2:g.44120G>A

Select item 148454115615.

rs1484541156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 8:13566183 (GRCh38)
8:13423692 (GRCh37)
Canonical SPDI:: NC_000008.11:13566182:T:A,NC_000008.11:13566182:T:G
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.13566183T>A, NC_000008.11:g.13566183T>G, NC_000008.10:g.13423692T>A, NC_000008.10:g.13423692T>G, NG_015998.2:g.43423A>T, NG_015998.2:g.43423A>C

Select item 148422073016.

rs1484220730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:13565111 (GRCh38)
8:13422620 (GRCh37)
Canonical SPDI:: NC_000008.11:13565110:C:T
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.13565111C>T, NC_000008.10:g.13422620C>T, NG_015998.2:g.44495G>A

Select item 148355206317.

rs1483552063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:13565078 (GRCh38)
8:13422587 (GRCh37)
Canonical SPDI:: NC_000008.11:13565077:T:C
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.13565078T>C, NC_000008.10:g.13422587T>C, NG_015998.2:g.44528A>G

Select item 148260418718.

rs1482604187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:13565018 (GRCh38)
8:13422527 (GRCh37)
Canonical SPDI:: NC_000008.11:13565017:T:C
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,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_000008.11:g.13565018T>C, NC_000008.10:g.13422527T>C, NG_015998.2:g.44588A>G

Select item 148258075419.

rs1482580754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:13565495 (GRCh38)
8:13423004 (GRCh37)
Canonical SPDI:: NC_000008.11:13565494:A:G
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,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_000008.11:g.13565495A>G, NC_000008.10:g.13423004A>G, NG_015998.2:g.44111T>C

Select item 148199785220.

rs1481997852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:13566951 (GRCh38)
8:13424460 (GRCh37)
Canonical SPDI:: NC_000008.11:13566950:C:T
Gene:: DLC1 (Varview), C8orf48 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/15 (TOPMED)
T=0.000131/15 (GnomAD_exomes)
HGVS:: NC_000008.11:g.13566951C>T, NC_000008.10:g.13424460C>T, NG_015998.2:g.42655G>A, NM_001007090.3:c.-41C>T, NM_001007090.2:c.-41C>T, NM_152567.1:c.-41C>T