SNP Links for Gene (Select 150383) - SNP

Links from Gene

Items: 1 to 20 of 2221

<< First< Prev

Page of 112

Next >Last >>

Select item 14906931331.

rs1490693133 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 22:46252304 (GRCh38)
22:46648202 (GRCh37)
Canonical SPDI:: NC_000022.11:46252304::TTA
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
TTA=0.000036/5 (GnomAD)
TTA=0.000072/19 (TOPMED)
HGVS:: NC_000022.11:g.46252304_46252305insTTA, NC_000022.10:g.46648201_46648202insTTA

Select item 14905767232.

rs1490576723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:46243692 (GRCh38)
22:46639589 (GRCh37)
Canonical SPDI:: NC_000022.11:46243691:G:C
Gene:: PPARA (Varview), CDPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.46243692G>C, NC_000022.10:g.46639589G>C, NG_012204.2:g.98159G>C, NM_005036.6:c.*8312G>C, NM_005036.5:c.*8312G>C, NM_005036.4:c.*8312G>C, NM_001001928.4:c.*8312G>C, NM_001001928.3:c.*8312G>C, NM_001001928.2:c.*8312G>C, NM_001362873.3:c.*8312G>C, NM_001362873.2:c.*8312G>C, NM_001362873.1:c.*8312G>C, NM_001001929.3:c.*8312G>C, NM_001001929.2:c.*8312G>C, NM_001362872.2:c.*8312G>C, NM_001362872.1:c.*8312G>C, NM_001393943.1:c.*8312G>C, NM_001393945.1:c.*8312G>C, NM_001393944.1:c.*8312G>C, NM_001393942.1:c.*8312G>C, NM_001393946.1:c.*8312G>C, NM_001393941.1:c.*8312G>C, NM_001393947.1:c.*8312G>C, XM_011530240.3:c.*8312G>C, XM_011530240.1:c.*8312G>C, XM_011530239.3:c.*8312G>C, XM_011530239.1:c.*8312G>C, NM_001001930.2:c.*8312G>C, XM_017028839.2:c.*8312G>C, XM_047441420.1:c.*8312G>C, XM_047441421.1:c.*8312G>C, XM_047441422.1:c.*8312G>C, XM_047441423.1:c.*8312G>C, XM_047441424.1:c.*8312G>C, XM_047441425.1:c.*8312G>C, XM_047441426.1:c.*8312G>C, XM_047441427.1:c.*8312G>C

Select item 14904932273.

rs1490493227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:46245466 (GRCh38)
22:46641363 (GRCh37)
Canonical SPDI:: NC_000022.11:46245465:G:C
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000022.11:g.46245466G>C, NC_000022.10:g.46641363G>C, NG_012204.2:g.99933G>C

Select item 14902069714.

rs1490206971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:46251743 (GRCh38)
22:46647640 (GRCh37)
Canonical SPDI:: NC_000022.11:46251742:A:G
Gene:: CDPF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.46251743A>G, NC_000022.10:g.46647640A>G

Select item 14900010965.

rs1490001096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46245011 (GRCh38)
22:46640908 (GRCh37)
Canonical SPDI:: NC_000022.11:46245010:C:T
Gene:: CDPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46245011C>T, NC_000022.10:g.46640908C>T, NG_012204.2:g.99478C>T, NM_207327.5:c.*81G>A, NM_207327.4:c.*81G>A, XM_011529965.3:c.*81G>A, XM_011529965.2:c.*81G>A, XM_011529965.1:c.*81G>A, XM_011529960.3:c.457G>A, XM_011529960.2:c.457G>A, XM_011529960.1:c.457G>A, NM_001008917.1:c.*306G>A, XP_011528262.1:p.Gly153Arg

Select item 14891262816.

rs1489126281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46247325 (GRCh38)
22:46643222 (GRCh37)
Canonical SPDI:: NC_000022.11:46247324:C:T
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46247325C>T, NC_000022.10:g.46643222C>T

Select item 14890287367.

rs1489028736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:46249031 (GRCh38)
22:46644928 (GRCh37)
Canonical SPDI:: NC_000022.11:46249030:C:A,NC_000022.11:46249030:C:G
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.46249031C>A, NC_000022.11:g.46249031C>G, NC_000022.10:g.46644928C>A, NC_000022.10:g.46644928C>G

Select item 14887972168.

rs1488797216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:46247810 (GRCh38)
22:46643707 (GRCh37)
Canonical SPDI:: NC_000022.11:46247809:C:A
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.46247810C>A, NC_000022.10:g.46643707C>A

Select item 14887246469.

rs1488724646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:46248855 (GRCh38)
22:46644752 (GRCh37)
Canonical SPDI:: NC_000022.11:46248854:T:C
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46248855T>C, NC_000022.10:g.46644752T>C

Select item 148762127110.

rs1487621271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46246993 (GRCh38)
22:46642890 (GRCh37)
Canonical SPDI:: NC_000022.11:46246992:C:T
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.46246993C>T, NC_000022.10:g.46642890C>T

Select item 148754940311.

rs1487549403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:46248091 (GRCh38)
22:46643988 (GRCh37)
Canonical SPDI:: NC_000022.11:46248090:T:C
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.46248091T>C, NC_000022.10:g.46643988T>C

Select item 148694673012.

rs1486946730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:46252670 (GRCh38)
22:46648567 (GRCh37)
Canonical SPDI:: NC_000022.11:46252669:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46252670G>T, NC_000022.10:g.46648567G>T

Select item 148649385813.

rs1486493858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46245720 (GRCh38)
22:46641617 (GRCh37)
Canonical SPDI:: NC_000022.11:46245719:C:T
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46245720C>T, NC_000022.10:g.46641617C>T, NG_012204.2:g.100187C>T

Select item 148482756114.

rs1484827561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46250819 (GRCh38)
22:46646716 (GRCh37)
Canonical SPDI:: NC_000022.11:46250818:G:A
Gene:: CDPF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.46250819G>A, NC_000022.10:g.46646716G>A

Select item 148482461215.

rs1484824612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:46247915 (GRCh38)
22:46643812 (GRCh37)
Canonical SPDI:: NC_000022.11:46247914:T:C
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46247915T>C, NC_000022.10:g.46643812T>C

Select item 148473269116.

rs1484732691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:46251193 (GRCh38)
22:46647090 (GRCh37)
Canonical SPDI:: NC_000022.11:46251192:G:A,NC_000022.11:46251192:G:C
Gene:: CDPF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.46251193G>A, NC_000022.11:g.46251193G>C, NC_000022.10:g.46647090G>A, NC_000022.10:g.46647090G>C

Select item 148472310717.

rs1484723107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:46249756 (GRCh38)
22:46645654 (GRCh37)
Canonical SPDI:: NC_000022.11:46249756:GGGGGG:GGGGGGG
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0.000214/3 (ALFA)
G=0.000102/27 (TOPMED)
G=0.000748/8 (GnomAD)
HGVS:: NC_000022.11:g.46249762dup, NC_000022.10:g.46645659dup

Select item 148454121918.

rs1484541219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:46248309 (GRCh38)
22:46644206 (GRCh37)
Canonical SPDI:: NC_000022.11:46248308:C:G
Gene:: CDPF1 (Varview)
Functional Consequence:: 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_000022.11:g.46248309C>G, NC_000022.10:g.46644206C>G

Select item 148431577819.

rs1484315778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46244031 (GRCh38)
22:46639928 (GRCh37)
Canonical SPDI:: NC_000022.11:46244030:C:T
Gene:: PPARA (Varview), CDPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46244031C>T, NC_000022.10:g.46639928C>T, NG_012204.2:g.98498C>T, NM_207327.5:c.*1061G>A, NM_207327.4:c.*1061G>A, XM_011529965.3:c.*1061G>A, XM_011529965.2:c.*1061G>A, XM_011529965.1:c.*1061G>A, XM_011529960.3:c.*783G>A, XM_011529960.2:c.*783G>A, XM_011529960.1:c.*783G>A, NM_001008917.1:c.*1286G>A

Select item 148310996720.

rs1483109967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:46246496 (GRCh38)
22:46642393 (GRCh37)
Canonical SPDI:: NC_000022.11:46246495:A:T
Gene:: CDPF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46246496A>T, NC_000022.10:g.46642393A>T

<< First< Prev

Page of 112

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2221

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity