SNP Links for Gene (Select 388428) - SNP

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Items: 1 to 20 of 5181

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Select item 14914593151.

rs1491459315 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:81166821 (GRCh38)
17:79140621 (GRCh37)
Canonical SPDI:: NC_000017.11:81166818:TCTC:TC
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81166819TC[1], NC_000017.10:g.79140619TC[1], NG_029981.1:g.4251GA[1], NM_001354639.2:c.-365TC[1], NM_001354639.1:c.-365TC[1], NR_027255.1:n.384TC[1], NM_207389.1:c.326_327del

Select item 14914295002.

rs1491429500 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81166504 (GRCh38)
17:79140305 (GRCh37)
Canonical SPDI:: NC_000017.11:81166504::C
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81166504_81166505insC, NC_000017.10:g.79140304_79140305insC, NG_029981.1:g.4568_4569insG

Select item 14913877383.

rs1491387738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81166819 (GRCh38)
17:79140620 (GRCh37)
Canonical SPDI:: NC_000017.11:81166819:C:CC
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81166820dup, NC_000017.10:g.79140620dup, NG_029981.1:g.4253dup, NM_001354639.2:c.-364dup, NM_001354639.1:c.-364dup, NR_027255.1:n.385dup, NM_207389.1:c.325dup

Select item 14913356394.

rs1491335639 has merged into rs1352693269 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGG>-,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 17:81166510 (GRCh38)
17:79140310 (GRCh37)
Canonical SPDI:: NC_000017.11:81166503:GGGGGGGGGGG:GGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:81166503:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.81166510_81166514del, NC_000017.11:g.81166513_81166514del, NC_000017.11:g.81166514del, NC_000017.11:g.81166514dup, NC_000017.11:g.81166513_81166514dup, NC_000017.11:g.81166512_81166514dup, NC_000017.11:g.81166511_81166514dup, NC_000017.11:g.81166510_81166514dup, NC_000017.10:g.79140310_79140314del, NC_000017.10:g.79140313_79140314del, NC_000017.10:g.79140314del, NC_000017.10:g.79140314dup, NC_000017.10:g.79140313_79140314dup, NC_000017.10:g.79140312_79140314dup, NC_000017.10:g.79140311_79140314dup, NC_000017.10:g.79140310_79140314dup, NG_029981.1:g.4565_4569del, NG_029981.1:g.4568_4569del, NG_029981.1:g.4569del, NG_029981.1:g.4569dup, NG_029981.1:g.4568_4569dup, NG_029981.1:g.4567_4569dup, NG_029981.1:g.4566_4569dup, NG_029981.1:g.4565_4569dup

Select item 14906824645.

rs1490682464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81164466 (GRCh38)
17:79138266 (GRCh37)
Canonical SPDI:: NC_000017.11:81164465:C:T
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81164466C>T, NC_000017.10:g.79138266C>T, NG_029981.1:g.6607G>A

Select item 14906169076.

rs1490616907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81174113 (GRCh38)
17:79147913 (GRCh37)
Canonical SPDI:: NC_000017.11:81174112:C:G
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.81174113C>G, NC_000017.10:g.79147913C>G

Select item 14904047817.

rs1490404781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81170072 (GRCh38)
17:79143872 (GRCh37)
Canonical SPDI:: NC_000017.11:81170071:G:A,NC_000017.11:81170071:G:T
Gene:: PVALEF (Varview)
Functional Consequence:: intron_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_000017.11:g.81170072G>A, NC_000017.11:g.81170072G>T, NC_000017.10:g.79143872G>A, NC_000017.10:g.79143872G>T, NG_029981.1:g.1001C>T, NG_029981.1:g.1001C>A

Select item 14902877748.

rs1490287774 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:81174411 (GRCh38)
17:79148211 (GRCh37)
Canonical SPDI:: NC_000017.11:81174410:CT:
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0022/36 (ALFA)
-=0.00131/22 (TOMMO)
-=0.00826/37 (Estonian)
HGVS:: NC_000017.11:g.81174411_81174412del, NC_000017.10:g.79148211_79148212del

Select item 14901942759.

rs1490194275 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:81164816 (GRCh38)
17:79138616 (GRCh37)
Canonical SPDI:: NC_000017.11:81164815:CCCC:CCC
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81164819del, NC_000017.10:g.79138619del, NG_029981.1:g.6257del

Select item 148979796710.

rs1489797967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81175254 (GRCh38)
17:79149054 (GRCh37)
Canonical SPDI:: NC_000017.11:81175253:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000017.11:g.81175254C>T, NC_000017.10:g.79149054C>T

Select item 148978641511.

rs1489786415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81166404 (GRCh38)
17:79140204 (GRCh37)
Canonical SPDI:: NC_000017.11:81166403:G:A
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.81166404G>A, NC_000017.10:g.79140204G>A, NG_029981.1:g.4669C>T

Select item 148962418212.

rs1489624182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81165305 (GRCh38)
17:79139105 (GRCh37)
Canonical SPDI:: NC_000017.11:81165304:G:A
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81165305G>A, NC_000017.10:g.79139105G>A, NG_029981.1:g.5768C>T

Select item 148958275313.

rs1489582753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81178213 (GRCh38)
17:79152013 (GRCh37)
Canonical SPDI:: NC_000017.11:81178212:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81178213C>T, NC_000017.10:g.79152013C>T

Select item 148946703514.

rs1489467035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81171428 (GRCh38)
17:79145228 (GRCh37)
Canonical SPDI:: NC_000017.11:81171427:G:A
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81171428G>A, NC_000017.10:g.79145228G>A

Select item 148900019915.

rs1489000199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:81180031 (GRCh38)
17:79153831 (GRCh37)
Canonical SPDI:: NC_000017.11:81180030:A:T
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.81180031A>T, NC_000017.10:g.79153831A>T

Select item 148889930416.

rs1488899304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81171977 (GRCh38)
17:79145777 (GRCh37)
Canonical SPDI:: NC_000017.11:81171976:C:A,NC_000017.11:81171976:C:T
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00009/1 (ALFA)
HGVS:: NC_000017.11:g.81171977C>A, NC_000017.11:g.81171977C>T, NC_000017.10:g.79145777C>A, NC_000017.10:g.79145777C>T

Select item 148886945417.

rs1488869454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81166137 (GRCh38)
17:79139937 (GRCh37)
Canonical SPDI:: NC_000017.11:81166136:G:A
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81166137G>A, NC_000017.10:g.79139937G>A, NG_029981.1:g.4936C>T, NM_001080395.3:c.-145C>T

Select item 148881526818.

rs1488815268 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81166511 (GRCh38)
17:79140312 (GRCh37)
Canonical SPDI:: NC_000017.11:81166511::C
Gene:: AATK (Varview), PVALEF (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.81166511_81166512insC, NC_000017.10:g.79140311_79140312insC, NG_029981.1:g.4561_4562insG

Select item 148874207419.

rs1488742074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81172633 (GRCh38)
17:79146433 (GRCh37)
Canonical SPDI:: NC_000017.11:81172632:A:G
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81172633A>G, NC_000017.10:g.79146433A>G

Select item 148856081420.

rs1488560814 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:81180838 (GRCh38)
17:79154638 (GRCh37)
Canonical SPDI:: NC_000017.11:81180837:T:
Gene:: PVALEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.81180838del, NC_000017.10:g.79154638del

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