SNP Links for Gene (Select 2487) - SNP

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Select item 14912310091.

rs1491231009 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTGATTTTTGAAGTATTTGAAGCATGAA [Show Flanks]
Chromosome:: 2:182838013 (GRCh38)
2:183702742 (GRCh37)
Canonical SPDI:: NC_000002.12:182838013::TTTGATTTTTGAAGTATTTGAAGCATGAA
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTGATTTTTGAAGTATTTGAAGCATGAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.182838013_182838014insTTTGATTTTTGAAGTATTTGAAGCATGAA, NC_000002.11:g.183702741_183702742insTTTGATTTTTGAAGTATTTGAAGCATGAA, NG_017197.2:g.33623_33624insTTCATGCTTCAAATACTTCAAAAATCAAA, NG_017197.1:g.33757_33758insTTCATGCTTCAAATACTTCAAAAATCAAA

Select item 14910509362.

rs1491050936 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:182867739 (GRCh38)
2:183732468 (GRCh37)
Canonical SPDI:: NC_000002.12:182867739::G
Gene:: FRZB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00008/11 (GnomAD)
HGVS:: NC_000002.12:g.182867739_182867740insG, NC_000002.11:g.183732467_183732468insG, NG_017197.2:g.3897_3898insC, NG_017197.1:g.4031_4032insC

Select item 14910095393.

rs1491009539 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14909533594.

rs1490953359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:182856853 (GRCh38)
2:183721581 (GRCh37)
Canonical SPDI:: NC_000002.12:182856852:C:T
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.182856853C>T, NC_000002.11:g.183721581C>T, NG_017197.2:g.14784G>A, NG_017197.1:g.14918G>A, XR_007087330.1:n.551G>A

Select item 14909282305.

rs1490928230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:182859800 (GRCh38)
2:183724528 (GRCh37)
Canonical SPDI:: NC_000002.12:182859799:C:T
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.182859800C>T, NC_000002.11:g.183724528C>T, NG_017197.2:g.11837G>A, NG_017197.1:g.11971G>A

Select item 14907377566.

rs1490737756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:182839079 (GRCh38)
2:183703807 (GRCh37)
Canonical SPDI:: NC_000002.12:182839078:G:A
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.182839079G>A, NC_000002.11:g.183703807G>A, NG_017197.2:g.32558C>T, NG_017197.1:g.32692C>T

Select item 14907058147.

rs1490705814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:182856276 (GRCh38)
2:183721004 (GRCh37)
Canonical SPDI:: NC_000002.12:182856275:T:C
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.182856276T>C, NC_000002.11:g.183721004T>C, NG_017197.2:g.15361A>G, NG_017197.1:g.15495A>G, XR_007087330.1:n.1128A>G

Select item 14906805678.

rs1490680567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:182855087 (GRCh38)
2:183719815 (GRCh37)
Canonical SPDI:: NC_000002.12:182855086:A:C
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.182855087A>C, NC_000002.11:g.183719815A>C, NG_017197.2:g.16550T>G, NG_017197.1:g.16684T>G, XR_007087330.1:n.2317T>G

Select item 14905732219.

rs1490573221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:182839582 (GRCh38)
2:183704310 (GRCh37)
Canonical SPDI:: NC_000002.12:182839581:G:A
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.182839582G>A, NC_000002.11:g.183704310G>A, NG_017197.2:g.32055C>T, NG_017197.1:g.32189C>T

Select item 149053529410.

rs1490535294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:182856676 (GRCh38)
2:183721404 (GRCh37)
Canonical SPDI:: NC_000002.12:182856675:C:A
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000002.12:g.182856676C>A, NC_000002.11:g.183721404C>A, NG_017197.2:g.14961G>T, NG_017197.1:g.15095G>T, XR_007087330.1:n.728G>T

Select item 149050622911.

rs1490506229 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:182848323 (GRCh38)
2:183713051 (GRCh37)
Canonical SPDI:: NC_000002.12:182848322:G:
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.182848323del, NC_000002.11:g.183713051del, NG_017197.2:g.23314del, NG_017197.1:g.23448del

Select item 149047541112.

rs1490475411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:182847203 (GRCh38)
2:183711931 (GRCh37)
Canonical SPDI:: NC_000002.12:182847202:T:A
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.001203/20 (TOMMO)
A=0.001638/3 (Korea1K)
A=0.001711/5 (KOREAN)
HGVS:: NC_000002.12:g.182847203T>A, NC_000002.11:g.183711931T>A, NG_017197.2:g.24434A>T, NG_017197.1:g.24568A>T

Select item 149045198113.

rs1490451981 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 2:182863906 (GRCh38)
2:183728634 (GRCh37)
Canonical SPDI:: NC_000002.12:182863905:CCCCCC:CCCCC,NC_000002.12:182863905:CCCCCC:CCCCCCC
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.182863911del, NC_000002.12:g.182863911dup, NC_000002.11:g.183728639del, NC_000002.11:g.183728639dup, NG_017197.2:g.7731del, NG_017197.2:g.7731dup, NG_017197.1:g.7865del, NG_017197.1:g.7865dup

Select item 149042161114.

rs1490421611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:182864907 (GRCh38)
2:183729635 (GRCh37)
Canonical SPDI:: NC_000002.12:182864906:C:T
Gene:: FRZB (Varview)
Functional Consequence:: intron_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_000002.12:g.182864907C>T, NC_000002.11:g.183729635C>T, NG_017197.2:g.6730G>A, NG_017197.1:g.6864G>A

Select item 149031264915.

rs1490312649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:182847721 (GRCh38)
2:183712449 (GRCh37)
Canonical SPDI:: NC_000002.12:182847720:C:T
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.182847721C>T, NC_000002.11:g.183712449C>T, NG_017197.2:g.23916G>A, NG_017197.1:g.24050G>A

Select item 149022801816.

rs1490228018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:182838683 (GRCh38)
2:183703411 (GRCh37)
Canonical SPDI:: NC_000002.12:182838682:A:T
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.182838683A>T, NC_000002.11:g.183703411A>T, NG_017197.2:g.32954T>A, NG_017197.1:g.33088T>A

Select item 149021320117.

rs1490213201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:182841267 (GRCh38)
2:183705995 (GRCh37)
Canonical SPDI:: NC_000002.12:182841266:T:A
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.182841267T>A, NC_000002.11:g.183705995T>A, NG_017197.2:g.30370A>T, NG_017197.1:g.30504A>T

Select item 148981056718.

rs1489810567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:182858203 (GRCh38)
2:183722931 (GRCh37)
Canonical SPDI:: NC_000002.12:182858202:T:C
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.182858203T>C, NC_000002.11:g.183722931T>C, NG_017197.2:g.13434A>G, NG_017197.1:g.13568A>G

Select item 148977389519.

rs1489773895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:182860966 (GRCh38)
2:183725694 (GRCh37)
Canonical SPDI:: NC_000002.12:182860965:A:T
Gene:: FRZB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.182860966A>T, NC_000002.11:g.183725694A>T, NG_017197.2:g.10671T>A, NG_017197.1:g.10805T>A

Select item 148963904220.

rs1489639042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:182857247 (GRCh38)
2:183721975 (GRCh37)
Canonical SPDI:: NC_000002.12:182857246:G:T
Gene:: FRZB (Varview), LOC124907916 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.182857247G>T, NC_000002.11:g.183721975G>T, NG_017197.2:g.14390C>A, NG_017197.1:g.14524C>A, XR_007087330.1:n.157C>A

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