SNP Links for Gene (Select 29115) - SNP

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Select item 14910797551.

rs1491079755 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:75683054 (GRCh38)
17:73679134 (GRCh37)
Canonical SPDI:: NC_000017.11:75683052:TAT:T
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000017.11:g.75683054_75683055del, NC_000017.10:g.73679134_73679135del

Select item 14910536282.

rs1491053628 has merged into rs35174866 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:75677765 (GRCh38)
17:73673845 (GRCh37)
Canonical SPDI:: NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75677755:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.14058/704 (1000Genomes)
-=0.375/3 (KOREAN)
HGVS:: NC_000017.11:g.75677765_75677776del, NC_000017.11:g.75677767_75677776del, NC_000017.11:g.75677768_75677776del, NC_000017.11:g.75677770_75677776del, NC_000017.11:g.75677772_75677776del, NC_000017.11:g.75677773_75677776del, NC_000017.11:g.75677774_75677776del, NC_000017.11:g.75677775_75677776del, NC_000017.11:g.75677776del, NC_000017.11:g.75677776dup, NC_000017.11:g.75677775_75677776dup, NC_000017.11:g.75677774_75677776dup, NC_000017.11:g.75677773_75677776dup, NC_000017.11:g.75677772_75677776dup, NC_000017.11:g.75677771_75677776dup, NC_000017.10:g.73673845_73673856del, NC_000017.10:g.73673847_73673856del, NC_000017.10:g.73673848_73673856del, NC_000017.10:g.73673850_73673856del, NC_000017.10:g.73673852_73673856del, NC_000017.10:g.73673853_73673856del, NC_000017.10:g.73673854_73673856del, NC_000017.10:g.73673855_73673856del, NC_000017.10:g.73673856del, NC_000017.10:g.73673856dup, NC_000017.10:g.73673855_73673856dup, NC_000017.10:g.73673854_73673856dup, NC_000017.10:g.73673853_73673856dup, NC_000017.10:g.73673852_73673856dup, NC_000017.10:g.73673851_73673856dup

Select item 14909403573.

rs1490940357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:75688096 (GRCh38)
17:73684176 (GRCh37)
Canonical SPDI:: NC_000017.11:75688095:C:A
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75688096C>A, NC_000017.10:g.73684176C>A

Select item 14909125634.

rs1490912563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:75667581 (GRCh38)
17:73663661 (GRCh37)
Canonical SPDI:: NC_000017.11:75667580:A:C
Gene:: RECQL5 (Varview), SAP30BP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75667581A>C, NC_000017.10:g.73663661A>C, NG_029617.1:g.4609T>G

Select item 14909116415.

rs1490911641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75675323 (GRCh38)
17:73671403 (GRCh37)
Canonical SPDI:: NC_000017.11:75675322:G:A
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75675323G>A, NC_000017.10:g.73671403G>A

Select item 14908865706.

rs1490886570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75674663 (GRCh38)
17:73670743 (GRCh37)
Canonical SPDI:: NC_000017.11:75674662:C:T
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.75674663C>T, NC_000017.10:g.73670743C>T

Select item 14907862497.

rs1490786249 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 17:75696562 (GRCh38)
17:73692642 (GRCh37)
Canonical SPDI:: NC_000017.11:75696559:AAGAA:AA
Gene:: SAP30BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.75696562_75696564del, NC_000017.10:g.73692642_73692644del

Select item 14906975358.

rs1490697535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75704212 (GRCh38)
17:73700292 (GRCh37)
Canonical SPDI:: NC_000017.11:75704211:A:G
Gene:: SAP30BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75704212A>G, NC_000017.10:g.73700292A>G

Select item 14906232959.

rs1490623295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75695636 (GRCh38)
17:73691716 (GRCh37)
Canonical SPDI:: NC_000017.11:75695635:A:G
Gene:: SAP30BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75695636A>G, NC_000017.10:g.73691716A>G

Select item 149055881410.

rs1490558814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75696169 (GRCh38)
17:73692249 (GRCh37)
Canonical SPDI:: NC_000017.11:75696168:A:G
Gene:: SAP30BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75696169A>G, NC_000017.10:g.73692249A>G

Select item 149046418711.

rs1490464187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75689509 (GRCh38)
17:73685589 (GRCh37)
Canonical SPDI:: NC_000017.11:75689508:G:T
Gene:: SAP30BP (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.75689509G>T, NC_000017.10:g.73685589G>T

Select item 149042145912.

rs1490421459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75675774 (GRCh38)
17:73671854 (GRCh37)
Canonical SPDI:: NC_000017.11:75675773:G:A
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.75675774G>A, NC_000017.10:g.73671854G>A

Select item 149039044913.

rs1490390449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75673226 (GRCh38)
17:73669306 (GRCh37)
Canonical SPDI:: NC_000017.11:75673225:A:G
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.75673226A>G, NC_000017.10:g.73669306A>G

Select item 149024489514.

rs1490244895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75695150 (GRCh38)
17:73691230 (GRCh37)
Canonical SPDI:: NC_000017.11:75695149:T:C
Gene:: SAP30BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75695150T>C, NC_000017.10:g.73691230T>C

Select item 149020673415.

rs1490206734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75666485 (GRCh38)
17:73662565 (GRCh37)
Canonical SPDI:: NC_000017.11:75666484:C:T
Gene:: RECQL5 (Varview), SAP30BP (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75666485C>T, NC_000017.10:g.73662565C>T, NG_029617.1:g.5705G>A, NM_004259.7:c.73G>A, NM_004259.6:c.73G>A, NM_001003716.4:c.73G>A, NM_001003716.3:c.73G>A, NM_001003715.4:c.73G>A, NM_001003715.3:c.73G>A, XM_005257818.5:c.73G>A, XM_005257818.4:c.73G>A, XM_005257818.3:c.73G>A, XM_005257818.2:c.73G>A, XM_005257818.1:c.73G>A, XM_047437085.1:c.73G>A, XM_047437092.1:c.73G>A, XM_047437091.1:c.73G>A, NP_004250.4:p.Gly25Arg, NP_001003716.1:p.Gly25Arg, NP_001003715.1:p.Gly25Arg, XP_005257875.1:p.Gly25Arg, XP_047293041.1:p.Gly25Arg, XP_047293048.1:p.Gly25Arg, XP_047293047.1:p.Gly25Arg

Select item 149017527016.

rs1490175270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75702852 (GRCh38)
17:73698932 (GRCh37)
Canonical SPDI:: NC_000017.11:75702851:G:T
Gene:: SAP30BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75702852G>T, NC_000017.10:g.73698932G>T

Select item 149014128617.

rs1490141286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75679137 (GRCh38)
17:73675217 (GRCh37)
Canonical SPDI:: NC_000017.11:75679136:C:T
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75679137C>T, NC_000017.10:g.73675217C>T

Select item 149011687518.

rs1490116875 has merged into rs68006166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 17:75687931 (GRCh38)
17:73684011 (GRCh37)
Canonical SPDI:: NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75687917:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000017.11:g.75687919TG[6], NC_000017.11:g.75687919TG[12], NC_000017.11:g.75687919TG[13], NC_000017.11:g.75687919TG[16], NC_000017.11:g.75687919TG[17], NC_000017.11:g.75687919TG[18], NC_000017.11:g.75687919TG[20], NC_000017.11:g.75687919TG[21], NC_000017.11:g.75687919TG[22], NC_000017.11:g.75687919TG[23], NC_000017.11:g.75687919TG[24], NC_000017.11:g.75687919TG[25], NC_000017.11:g.75687919TG[26], NC_000017.11:g.75687919TG[27], NC_000017.11:g.75687919TG[28], NC_000017.11:g.75687919TG[29], NC_000017.11:g.75687919TG[30], NC_000017.11:g.75687919TG[31], NC_000017.10:g.73683999TG[6], NC_000017.10:g.73683999TG[12], NC_000017.10:g.73683999TG[13], NC_000017.10:g.73683999TG[16], NC_000017.10:g.73683999TG[17], NC_000017.10:g.73683999TG[18], NC_000017.10:g.73683999TG[20], NC_000017.10:g.73683999TG[21], NC_000017.10:g.73683999TG[22], NC_000017.10:g.73683999TG[23], NC_000017.10:g.73683999TG[24], NC_000017.10:g.73683999TG[25], NC_000017.10:g.73683999TG[26], NC_000017.10:g.73683999TG[27], NC_000017.10:g.73683999TG[28], NC_000017.10:g.73683999TG[29], NC_000017.10:g.73683999TG[30], NC_000017.10:g.73683999TG[31]

Select item 149000191419.

rs1490001914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:75681402 (GRCh38)
17:73677482 (GRCh37)
Canonical SPDI:: NC_000017.11:75681401:C:G,NC_000017.11:75681401:C:T
Gene:: SAP30BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75681402C>G, NC_000017.11:g.75681402C>T, NC_000017.10:g.73677482C>G, NC_000017.10:g.73677482C>T

Select item 148997981720.

rs1489979817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:75678257 (GRCh38)
17:73674337 (GRCh37)
Canonical SPDI:: NC_000017.11:75678256:C:G
Gene:: SAP30BP (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.75678257C>G, NC_000017.10:g.73674337C>G

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