SNP Links for Gene (Select 101927051) - SNP

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Select item 14914667961.

rs1491466796 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 22:37657365 (GRCh38)
22:38053373 (GRCh37)
Canonical SPDI:: NC_000022.11:37657365:TT:TTCTT
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.37657367_37657368insCTT, NC_000022.10:g.38053374_38053375insCTT, NG_053097.2:g.22893_22894insCTT

Select item 14914572262.

rs1491457226 has merged into rs1018873130 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:37657372 (GRCh38)
22:38053379 (GRCh37)
Canonical SPDI:: NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37657364:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.37657372_37657385del, NC_000022.11:g.37657376_37657385del, NC_000022.11:g.37657377_37657385del, NC_000022.11:g.37657378_37657385del, NC_000022.11:g.37657379_37657385del, NC_000022.11:g.37657380_37657385del, NC_000022.11:g.37657381_37657385del, NC_000022.11:g.37657382_37657385del, NC_000022.11:g.37657383_37657385del, NC_000022.11:g.37657384_37657385del, NC_000022.11:g.37657385del, NC_000022.11:g.37657385dup, NC_000022.11:g.37657384_37657385dup, NC_000022.11:g.37657383_37657385dup, NC_000022.11:g.37657382_37657385dup, NC_000022.11:g.37657381_37657385dup, NC_000022.11:g.37657380_37657385dup, NC_000022.11:g.37657379_37657385dup, NC_000022.11:g.37657378_37657385dup, NC_000022.11:g.37657377_37657385dup, NC_000022.11:g.37657376_37657385dup, NC_000022.11:g.37657375_37657385dup, NC_000022.11:g.37657374_37657385dup, NC_000022.11:g.37657373_37657385dup, NC_000022.11:g.37657372_37657385dup, NC_000022.11:g.37657371_37657385dup, NC_000022.11:g.37657370_37657385dup, NC_000022.11:g.37657369_37657385dup, NC_000022.11:g.37657368_37657385dup, NC_000022.11:g.37657367_37657385dup, NC_000022.11:g.37657366_37657385dup, NC_000022.11:g.37657365_37657385dup, NC_000022.11:g.37657385_37657386insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.37657385_37657386insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.37657385_37657386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38053379_38053392del, NC_000022.10:g.38053383_38053392del, NC_000022.10:g.38053384_38053392del, NC_000022.10:g.38053385_38053392del, NC_000022.10:g.38053386_38053392del, NC_000022.10:g.38053387_38053392del, NC_000022.10:g.38053388_38053392del, NC_000022.10:g.38053389_38053392del, NC_000022.10:g.38053390_38053392del, NC_000022.10:g.38053391_38053392del, NC_000022.10:g.38053392del, NC_000022.10:g.38053392dup, NC_000022.10:g.38053391_38053392dup, NC_000022.10:g.38053390_38053392dup, NC_000022.10:g.38053389_38053392dup, NC_000022.10:g.38053388_38053392dup, NC_000022.10:g.38053387_38053392dup, NC_000022.10:g.38053386_38053392dup, NC_000022.10:g.38053385_38053392dup, NC_000022.10:g.38053384_38053392dup, NC_000022.10:g.38053383_38053392dup, NC_000022.10:g.38053382_38053392dup, NC_000022.10:g.38053381_38053392dup, NC_000022.10:g.38053380_38053392dup, NC_000022.10:g.38053379_38053392dup, NC_000022.10:g.38053378_38053392dup, NC_000022.10:g.38053377_38053392dup, NC_000022.10:g.38053376_38053392dup, NC_000022.10:g.38053375_38053392dup, NC_000022.10:g.38053374_38053392dup, NC_000022.10:g.38053373_38053392dup, NC_000022.10:g.38053372_38053392dup, NC_000022.10:g.38053392_38053393insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38053392_38053393insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38053392_38053393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053097.2:g.22898_22911del, NG_053097.2:g.22902_22911del, NG_053097.2:g.22903_22911del, NG_053097.2:g.22904_22911del, NG_053097.2:g.22905_22911del, NG_053097.2:g.22906_22911del, NG_053097.2:g.22907_22911del, NG_053097.2:g.22908_22911del, NG_053097.2:g.22909_22911del, NG_053097.2:g.22910_22911del, NG_053097.2:g.22911del, NG_053097.2:g.22911dup, NG_053097.2:g.22910_22911dup, NG_053097.2:g.22909_22911dup, NG_053097.2:g.22908_22911dup, NG_053097.2:g.22907_22911dup, NG_053097.2:g.22906_22911dup, NG_053097.2:g.22905_22911dup, NG_053097.2:g.22904_22911dup, NG_053097.2:g.22903_22911dup, NG_053097.2:g.22902_22911dup, NG_053097.2:g.22901_22911dup, NG_053097.2:g.22900_22911dup, NG_053097.2:g.22899_22911dup, NG_053097.2:g.22898_22911dup, NG_053097.2:g.22897_22911dup, NG_053097.2:g.22896_22911dup, NG_053097.2:g.22895_22911dup, NG_053097.2:g.22894_22911dup, NG_053097.2:g.22893_22911dup, NG_053097.2:g.22892_22911dup, NG_053097.2:g.22891_22911dup, NG_053097.2:g.22911_22912insTTTTTTTTTTTTTTTTTTTTTT, NG_053097.2:g.22911_22912insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053097.2:g.22911_22912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912527323.

rs1491252732 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:37648701 (GRCh38)
22:38044709 (GRCh37)
Canonical SPDI:: NC_000022.11:37648701::C
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.37648701_37648702insC, NC_000022.10:g.38044708_38044709insC, NG_053097.2:g.14227_14228insC

Select item 14911086274.

rs1491108627 has merged into rs993648456 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:37648711 (GRCh38)
22:38044718 (GRCh37)
Canonical SPDI:: NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37648700:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00336/2 (NorthernSweden)
HGVS:: NC_000022.11:g.37648711_37648720del, NC_000022.11:g.37648713_37648720del, NC_000022.11:g.37648714_37648720del, NC_000022.11:g.37648716_37648720del, NC_000022.11:g.37648717_37648720del, NC_000022.11:g.37648718_37648720del, NC_000022.11:g.37648719_37648720del, NC_000022.11:g.37648720del, NC_000022.11:g.37648720dup, NC_000022.11:g.37648719_37648720dup, NC_000022.11:g.37648718_37648720dup, NC_000022.11:g.37648717_37648720dup, NC_000022.11:g.37648716_37648720dup, NC_000022.11:g.37648715_37648720dup, NC_000022.11:g.37648720_37648721insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38044718_38044727del, NC_000022.10:g.38044720_38044727del, NC_000022.10:g.38044721_38044727del, NC_000022.10:g.38044723_38044727del, NC_000022.10:g.38044724_38044727del, NC_000022.10:g.38044725_38044727del, NC_000022.10:g.38044726_38044727del, NC_000022.10:g.38044727del, NC_000022.10:g.38044727dup, NC_000022.10:g.38044726_38044727dup, NC_000022.10:g.38044725_38044727dup, NC_000022.10:g.38044724_38044727dup, NC_000022.10:g.38044723_38044727dup, NC_000022.10:g.38044722_38044727dup, NC_000022.10:g.38044727_38044728insTTTTTTTTTTTTTTTTTTTTTTT, NG_053097.2:g.14237_14246del, NG_053097.2:g.14239_14246del, NG_053097.2:g.14240_14246del, NG_053097.2:g.14242_14246del, NG_053097.2:g.14243_14246del, NG_053097.2:g.14244_14246del, NG_053097.2:g.14245_14246del, NG_053097.2:g.14246del, NG_053097.2:g.14246dup, NG_053097.2:g.14245_14246dup, NG_053097.2:g.14244_14246dup, NG_053097.2:g.14243_14246dup, NG_053097.2:g.14242_14246dup, NG_053097.2:g.14241_14246dup, NG_053097.2:g.14246_14247insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909934585.

rs1490993458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 22:37657029 (GRCh38)
22:38053036 (GRCh37)
Canonical SPDI:: NC_000022.11:37657028:A:C,NC_000022.11:37657028:A:G,NC_000022.11:37657028:A:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.37657029A>C, NC_000022.11:g.37657029A>G, NC_000022.11:g.37657029A>T, NC_000022.10:g.38053036A>C, NC_000022.10:g.38053036A>G, NC_000022.10:g.38053036A>T, NG_053097.2:g.22555A>C, NG_053097.2:g.22555A>G, NG_053097.2:g.22555A>T

Select item 14909617496.

rs1490961749 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:37657540 (GRCh38)
22:38053547 (GRCh37)
Canonical SPDI:: NC_000022.11:37657538:ACA:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37657540_37657541del, NC_000022.10:g.38053547_38053548del, NG_053097.2:g.23066_23067del

Select item 14908780027.

rs1490878002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37643385 (GRCh38)
22:38039392 (GRCh37)
Canonical SPDI:: NC_000022.11:37643384:C:G
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: 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_000022.11:g.37643385C>G, NC_000022.10:g.38039392C>G, NG_053097.2:g.8911C>G

Select item 14907574288.

rs1490757428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:37659183 (GRCh38)
22:38055190 (GRCh37)
Canonical SPDI:: NC_000022.11:37659182:G:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_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.37659183G>T, NC_000022.10:g.38055190G>T, NG_053097.2:g.24709G>T, NM_020315.5:c.401G>T, NM_020315.4:c.401G>T, NP_064711.1:p.Ser134Ile

Select item 14907355399.

rs1490735539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37649552 (GRCh38)
22:38045559 (GRCh37)
Canonical SPDI:: NC_000022.11:37649551:G:A
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37649552G>A, NC_000022.10:g.38045559G>A, NG_053097.2:g.15078G>A

Select item 149050203110.

rs1490502031 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:37656643 (GRCh38)
22:38052650 (GRCh37)
Canonical SPDI:: NC_000022.11:37656642:TT:
Gene:: PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37656643_37656644del, NC_000022.10:g.38052650_38052651del, NG_053097.2:g.22169_22170del

Select item 149047051311.

rs1490470513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37657332 (GRCh38)
22:38053339 (GRCh37)
Canonical SPDI:: NC_000022.11:37657331:G:A
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_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_000022.11:g.37657332G>A, NC_000022.10:g.38053339G>A, NG_053097.2:g.22858G>A

Select item 149044210412.

rs1490442104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37641513 (GRCh38)
22:38037520 (GRCh37)
Canonical SPDI:: NC_000022.11:37641512:C:T
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000022.11:g.37641513C>T, NC_000022.10:g.38037520C>T, NG_053097.2:g.7039C>T

Select item 149038626913.

rs1490386269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37642997 (GRCh38)
22:38039004 (GRCh37)
Canonical SPDI:: NC_000022.11:37642996:G:A
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000022.11:g.37642997G>A, NC_000022.10:g.38039004G>A, NG_053097.2:g.8523G>A, NM_018957.6:c.387G>A, NM_018957.5:c.387G>A, NM_018957.4:c.387G>A, NM_018957.3:c.387G>A, NM_001350055.2:c.387G>A, NM_001350055.1:c.387G>A, NM_032201.1:c.*705C>T

Select item 149034411414.

rs1490344114 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:37659193 (GRCh38)
22:38055201 (GRCh37)
Canonical SPDI:: NC_000022.11:37659193:GG:GGG
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.37659195dup, NC_000022.10:g.38055202dup, NG_053097.2:g.24721dup, NM_020315.5:c.413dup, NM_020315.4:c.413dup, NP_064711.1:p.Ala139fs

Select item 149020083515.

rs1490200835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37646668 (GRCh38)
22:38042675 (GRCh37)
Canonical SPDI:: NC_000022.11:37646667:C:T
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000343/1 (KOREAN)
HGVS:: NC_000022.11:g.37646668C>T, NC_000022.10:g.38042675C>T, NG_053097.2:g.12194C>T

Select item 148974135816.

rs1489741358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37649645 (GRCh38)
22:38045652 (GRCh37)
Canonical SPDI:: NC_000022.11:37649644:G:A
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.37649645G>A, NC_000022.10:g.38045652G>A, NG_053097.2:g.15171G>A

Select item 148973568717.

rs1489735687 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 22:37643443 (GRCh38)
22:38039450 (GRCh37)
Canonical SPDI:: NC_000022.11:37643442:G:
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000094/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.37643443del, NC_000022.10:g.38039450del, NG_053097.2:g.8969del

Select item 148962164418.

rs1489621644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37642526 (GRCh38)
22:38038533 (GRCh37)
Canonical SPDI:: NC_000022.11:37642525:A:G
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37642526A>G, NC_000022.10:g.38038533A>G, NG_053097.2:g.8052A>G, NR_109952.1:n.1251T>C

Select item 148952581819.

rs1489525818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:37657452 (GRCh38)
22:38053459 (GRCh37)
Canonical SPDI:: NC_000022.11:37657451:G:A,NC_000022.11:37657451:G:T
Gene:: PDXP (Varview), PDXP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.37657452G>A, NC_000022.11:g.37657452G>T, NC_000022.10:g.38053459G>A, NC_000022.10:g.38053459G>T, NG_053097.2:g.22978G>A, NG_053097.2:g.22978G>T

Select item 148941528720.

rs1489415287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:37649389 (GRCh38)
22:38045396 (GRCh37)
Canonical SPDI:: NC_000022.11:37649388:G:C
Gene:: SH3BP1 (Varview), PDXP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000022.11:g.37649389G>C, NC_000022.10:g.38045396G>C, NG_053097.2:g.14915G>C

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