SNP Links for Gene (Select 5369) - SNP

Links from Gene

Items: 1 to 20 of 2582

<< First< Prev

Page of 130

Next >Last >>

Select item 14913564761.

rs1491356476 has merged into rs34902507 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 5:22150537 (GRCh38)
5:22150646 (GRCh37)
Canonical SPDI:: NC_000005.10:22150525:ACACACACACACACA:ACACACACACA,NC_000005.10:22150525:ACACACACACACACA:ACACACACACACA,NC_000005.10:22150525:ACACACACACACACA:ACACACACACACACACA,NC_000005.10:22150525:ACACACACACACACA:ACACACACACACACACACA
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.0015/4 (1000Genomes)
-=0.4187/767 (Korea1K)
AC=0.425/17 (GENOME_DK)
-=0.4749/474 (GoNL)
AC=0.49/294 (NorthernSweden)
HGVS:: NC_000005.10:g.22150527CA[5], NC_000005.10:g.22150527CA[6], NC_000005.10:g.22150527CA[8], NC_000005.10:g.22150527CA[9], NC_000005.9:g.22150636CA[5], NC_000005.9:g.22150636CA[6], NC_000005.9:g.22150636CA[8], NC_000005.9:g.22150636CA[9]

Select item 14912013202.

rs1491201320 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:22143368 (GRCh38)
5:22143478 (GRCh37)
Canonical SPDI:: NC_000005.10:22143368::A
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.22143368_22143369insA, NC_000005.9:g.22143477_22143478insA, NM_031887.2:c.*464_*465insA

Select item 14911238493.

rs1491123849 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:22143368 (GRCh38)
5:22143477 (GRCh37)
Canonical SPDI:: NC_000005.10:22143367:CT:
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00784/93 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00493/9 (Korea1K)
HGVS:: NC_000005.10:g.22143368_22143369del, NC_000005.9:g.22143477_22143478del, NM_031887.2:c.*464dup, NM_031887.2:c.*483del

Select item 14909189764.

rs1490918976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:22140365 (GRCh38)
5:22140474 (GRCh37)
Canonical SPDI:: NC_000005.10:22140364:C:T
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000093/13 (GnomAD)
HGVS:: NC_000005.10:g.22140365C>T, NC_000005.9:g.22140474C>T

Select item 14906052925.

rs1490605292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:22148772 (GRCh38)
5:22148881 (GRCh37)
Canonical SPDI:: NC_000005.10:22148771:G:A,NC_000005.10:22148771:G:T
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.22148772G>A, NC_000005.10:g.22148772G>T, NC_000005.9:g.22148881G>A, NC_000005.9:g.22148881G>T

Select item 14904022436.

rs1490402243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:22141261 (GRCh38)
5:22141370 (GRCh37)
Canonical SPDI:: NC_000005.10:22141260:C:T
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.22141261C>T, NC_000005.9:g.22141370C>T

Select item 14899925367.

rs1489992536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:22141702 (GRCh38)
5:22141811 (GRCh37)
Canonical SPDI:: NC_000005.10:22141701:T:A,NC_000005.10:22141701:T:C
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.22141702T>A, NC_000005.10:g.22141702T>C, NC_000005.9:g.22141811T>A, NC_000005.9:g.22141811T>C

Select item 14899114558.

rs1489911455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:22142459 (GRCh38)
5:22142568 (GRCh37)
Canonical SPDI:: NC_000005.10:22142458:A:G
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_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_000005.10:g.22142459A>G, NC_000005.9:g.22142568A>G, NM_031887.2:c.87A>G, NR_003921.1:n.108A>G, NM_031887.1:c.87A>G

Select item 14898703989.

rs1489870398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:22142587 (GRCh38)
5:22142696 (GRCh37)
Canonical SPDI:: NC_000005.10:22142586:A:G
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000005.10:g.22142587A>G, NC_000005.9:g.22142696A>G

Select item 148956255110.

rs1489562551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:22142761 (GRCh38)
5:22142870 (GRCh37)
Canonical SPDI:: NC_000005.10:22142760:T:A
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000005.10:g.22142761T>A, NC_000005.9:g.22142870T>A

Select item 148951230811.

rs1489512308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:22150814 (GRCh38)
5:22150923 (GRCh37)
Canonical SPDI:: NC_000005.10:22150813:T:C
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.22150814T>C, NC_000005.9:g.22150923T>C

Select item 148951154912.

rs1489511549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:22150328 (GRCh38)
5:22150437 (GRCh37)
Canonical SPDI:: NC_000005.10:22150327:G:A
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.22150328G>A, NC_000005.9:g.22150437G>A

Select item 148950112513.

rs1489501125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:22141709 (GRCh38)
5:22141818 (GRCh37)
Canonical SPDI:: NC_000005.10:22141708:T:C
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.22141709T>C, NC_000005.9:g.22141818T>C

Select item 148945068014.

rs1489450680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:22150387 (GRCh38)
5:22150496 (GRCh37)
Canonical SPDI:: NC_000005.10:22150386:T:C
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_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_000005.10:g.22150387T>C, NC_000005.9:g.22150496T>C

Select item 148940576015.

rs1489405760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:22146408 (GRCh38)
5:22146517 (GRCh37)
Canonical SPDI:: NC_000005.10:22146407:T:A
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.22146408T>A, NC_000005.9:g.22146517T>A

Select item 148864892316.

rs1488648923 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:22145936 (GRCh38)
5:22146046 (GRCh37)
Canonical SPDI:: NC_000005.10:22145936:G:GG
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.22145937dup, NC_000005.9:g.22146046dup

Select item 148848895017.

rs1488488950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:22146874 (GRCh38)
5:22146983 (GRCh37)
Canonical SPDI:: NC_000005.10:22146873:A:G
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000005.10:g.22146874A>G, NC_000005.9:g.22146983A>G

Select item 148826086818.

rs1488260868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:22148195 (GRCh38)
5:22148304 (GRCh37)
Canonical SPDI:: NC_000005.10:22148194:C:T
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.22148195C>T, NC_000005.9:g.22148304C>T

Select item 148814495419.

rs1488144954 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:22147909 (GRCh38)
5:22148019 (GRCh37)
Canonical SPDI:: NC_000005.10:22147909:A:AA
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.22147910dup, NC_000005.9:g.22148019dup

Select item 148774430420.

rs1487744304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:22146883 (GRCh38)
5:22146992 (GRCh37)
Canonical SPDI:: NC_000005.10:22146882:G:A,NC_000005.10:22146882:G:T
Gene:: CDH12 (Varview), PMCHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.22146883G>A, NC_000005.10:g.22146883G>T, NC_000005.9:g.22146992G>A, NC_000005.9:g.22146992G>T

<< First< Prev

Page of 130

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2582

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity