SNP Links for Gene (Select 83884) - SNP

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Select item 14914885131.

rs1491488513 has merged into rs782092436 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:141304662 (GRCh38)
5:140684229 (GRCh37)
Canonical SPDI:: NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:141304650:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.141304662_141304664del, NC_000005.10:g.141304663_141304664del, NC_000005.10:g.141304664del, NC_000005.10:g.141304664dup, NC_000005.10:g.141304663_141304664dup, NC_000005.10:g.141304662_141304664dup, NC_000005.10:g.141304661_141304664dup, NC_000005.10:g.141304660_141304664dup, NC_000005.10:g.141304659_141304664dup, NC_000005.10:g.141304658_141304664dup, NC_000005.10:g.141304657_141304664dup, NC_000005.10:g.141304656_141304664dup, NC_000005.10:g.141304655_141304664dup, NC_000005.10:g.141304654_141304664dup, NC_000005.10:g.141304653_141304664dup, NC_000005.10:g.141304652_141304664dup, NC_000005.10:g.141304651_141304664dup, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.141304664_141304665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539838_539840del, NW_004775428.1:g.539839_539840del, NW_004775428.1:g.539840del, NW_004775428.1:g.539840dup, NW_004775428.1:g.539839_539840dup, NW_004775428.1:g.539838_539840dup, NW_004775428.1:g.539837_539840dup, NW_004775428.1:g.539836_539840dup, NW_004775428.1:g.539835_539840dup, NW_004775428.1:g.539834_539840dup, NW_004775428.1:g.539833_539840dup, NW_004775428.1:g.539832_539840dup, NW_004775428.1:g.539831_539840dup, NW_004775428.1:g.539830_539840dup, NW_004775428.1:g.539829_539840dup, NW_004775428.1:g.539828_539840dup, NW_004775428.1:g.539827_539840dup, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775428.1:g.539840_539841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14859_14861del, NG_000012.2:g.14860_14861del, NG_000012.2:g.14861del, NG_000012.2:g.14861dup, NG_000012.2:g.14860_14861dup, NG_000012.2:g.14859_14861dup, NG_000012.2:g.14858_14861dup, NG_000012.2:g.14857_14861dup, NG_000012.2:g.14856_14861dup, NG_000012.2:g.14855_14861dup, NG_000012.2:g.14854_14861dup, NG_000012.2:g.14853_14861dup, NG_000012.2:g.14852_14861dup, NG_000012.2:g.14851_14861dup, NG_000012.2:g.14850_14861dup, NG_000012.2:g.14849_14861dup, NG_000012.2:g.14848_14861dup, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000012.2:g.14861_14862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684229_140684231del, NC_000005.9:g.140684230_140684231del, NC_000005.9:g.140684231del, NC_000005.9:g.140684231dup, NC_000005.9:g.140684230_140684231dup, NC_000005.9:g.140684229_140684231dup, NC_000005.9:g.140684228_140684231dup, NC_000005.9:g.140684227_140684231dup, NC_000005.9:g.140684226_140684231dup, NC_000005.9:g.140684225_140684231dup, NC_000005.9:g.140684224_140684231dup, NC_000005.9:g.140684223_140684231dup, NC_000005.9:g.140684222_140684231dup, NC_000005.9:g.140684221_140684231dup, NC_000005.9:g.140684220_140684231dup, NC_000005.9:g.140684219_140684231dup, NC_000005.9:g.140684218_140684231dup, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.140684231_140684232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914114402.

rs1491411440 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTC [Show Flanks]
Chromosome:: 5:141304651 (GRCh38)
5:140684219 (GRCh37)
Canonical SPDI:: NC_000005.10:141304651::C,NC_000005.10:141304651::CTC
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
C=0.00029/26 (GnomAD)
HGVS:: NC_000005.10:g.141304651_141304652insC, NC_000005.10:g.141304651_141304652insCTC, NW_004775428.1:g.539827_539828insC, NW_004775428.1:g.539827_539828insCTC, NG_000012.2:g.14848_14849insC, NG_000012.2:g.14848_14849insCTC, NC_000005.9:g.140684218_140684219insC, NC_000005.9:g.140684218_140684219insCTC

Select item 14903617683.

rs1490361768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141305907 (GRCh38)
5:140685474 (GRCh37)
Canonical SPDI:: NC_000005.10:141305906:C:A
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141305907C>A, NW_004775428.1:g.541083C>A, NG_000012.2:g.16104C>A, NC_000005.9:g.140685474C>A

Select item 14898709414.

rs1489870941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141305444 (GRCh38)
5:140685011 (GRCh37)
Canonical SPDI:: NC_000005.10:141305443:A:G
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.141305444A>G, NW_004775428.1:g.540620A>G, NG_000012.2:g.15641A>G, NC_000005.9:g.140685011A>G

Select item 14898397975.

rs1489839797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141304564 (GRCh38)
5:140684131 (GRCh37)
Canonical SPDI:: NC_000005.10:141304563:G:A
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141304564G>A, NW_004775428.1:g.539740G>A, NG_000012.2:g.14761G>A, NC_000005.9:g.140684131G>A

Select item 14892398796.

rs1489239879 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGAACGTC>- [Show Flanks]
Chromosome:: 5:141303743 (GRCh38)
5:140683310 (GRCh37)
Canonical SPDI:: NC_000005.10:141303739:GTCAGGGAACGTC:GTC
Gene:: SLC25A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GTC=0./0 (ALFA)
HGVS:: NC_000005.10:g.141303743_141303752del, NW_004775428.1:g.538919_538928del, NG_000012.2:g.13940_13949del, NC_000005.9:g.140683310_140683319del, NM_031947.4:c.117_126del, NM_031947.3:c.117_126del, NM_031947.2:c.117_126del, NP_114153.1:p.Phe40fs

Select item 14891244497.

rs1489124449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141302589 (GRCh38)
5:140682156 (GRCh37)
Canonical SPDI:: NC_000005.10:141302588:G:C
Gene:: SLC25A2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.141302589G>C, NW_004775428.1:g.537765G>C, NG_000012.2:g.12786G>C, NC_000005.9:g.140682156G>C

Select item 14889052798.

rs1488905279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141304102 (GRCh38)
5:140683669 (GRCh37)
Canonical SPDI:: NC_000005.10:141304101:G:A,NC_000005.10:141304101:G:T
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141304102G>A, NC_000005.10:g.141304102G>T, NW_004775428.1:g.539278G>A, NW_004775428.1:g.539278G>T, NG_000012.2:g.14299G>A, NG_000012.2:g.14299G>T, NC_000005.9:g.140683669G>A, NC_000005.9:g.140683669G>T

Select item 14882561209.

rs1488256120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141303305 (GRCh38)
5:140682872 (GRCh37)
Canonical SPDI:: NC_000005.10:141303304:G:A
Gene:: SLC25A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141303305G>A, NW_004775428.1:g.538481G>A, NG_000012.2:g.13502G>A, NC_000005.9:g.140682872G>A, NM_031947.4:c.561C>T, NM_031947.3:c.561C>T, NM_031947.2:c.561C>T

Select item 148740793510.

rs1487407935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141302497 (GRCh38)
5:140682064 (GRCh37)
Canonical SPDI:: NC_000005.10:141302496:A:C
Gene:: SLC25A2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141302497A>C, NW_004775428.1:g.537673A>C, NG_000012.2:g.12694A>C, NC_000005.9:g.140682064A>C

Select item 148687891411.

rs1486878914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141304584 (GRCh38)
5:140684151 (GRCh37)
Canonical SPDI:: NC_000005.10:141304583:G:A,NC_000005.10:141304583:G:T
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.141304584G>A, NC_000005.10:g.141304584G>T, NW_004775428.1:g.539760G>A, NW_004775428.1:g.539760G>T, NG_000012.2:g.14781G>A, NG_000012.2:g.14781G>T, NC_000005.9:g.140684151G>A, NC_000005.9:g.140684151G>T

Select item 148255363912.

rs1482553639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141302245 (GRCh38)
5:140681812 (GRCh37)
Canonical SPDI:: NC_000005.10:141302244:T:C
Gene:: SLC25A2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141302245T>C, NW_004775428.1:g.537421T>C, NG_000012.2:g.12442T>C, NC_000005.9:g.140681812T>C

Select item 148232704213.

rs1482327042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141305841 (GRCh38)
5:140685408 (GRCh37)
Canonical SPDI:: NC_000005.10:141305840:G:A
Gene:: SLC25A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000057/15 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.141305841G>A, NW_004775428.1:g.541017G>A, NG_000012.2:g.16038G>A, NC_000005.9:g.140685408G>A

Select item 148170835214.

rs1481708352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141304914 (GRCh38)
5:140684481 (GRCh37)
Canonical SPDI:: NC_000005.10:141304913:T:C
Gene:: SLC25A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000049/13 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000005.10:g.141304914T>C, NW_004775428.1:g.540090T>C, NG_000012.2:g.15111T>C, NC_000005.9:g.140684481T>C

Select item 148082617915.

rs1480826179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141305274 (GRCh38)
5:140684841 (GRCh37)
Canonical SPDI:: NC_000005.10:141305273:G:A
Gene:: SLC25A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141305274G>A, NW_004775428.1:g.540450G>A, NG_000012.2:g.15471G>A, NC_000005.9:g.140684841G>A

Select item 148051345616.

rs1480513456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141306054 (GRCh38)
5:140685621 (GRCh37)
Canonical SPDI:: NC_000005.10:141306053:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141306054A>G, NW_004775428.1:g.541230A>G, NG_000012.2:g.16251A>G, NC_000005.9:g.140685621A>G

Select item 148017434217.

rs1480174342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141304413 (GRCh38)
5:140683980 (GRCh37)
Canonical SPDI:: NC_000005.10:141304412:G:A
Gene:: SLC25A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.141304413G>A, NW_004775428.1:g.539589G>A, NG_000012.2:g.14610G>A, NC_000005.9:g.140683980G>A

Select item 147870812618.

rs1478708126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141302705 (GRCh38)
5:140682272 (GRCh37)
Canonical SPDI:: NC_000005.10:141302704:C:G,NC_000005.10:141302704:C:T
Gene:: SLC25A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141302705C>G, NC_000005.10:g.141302705C>T, NW_004775428.1:g.537881C>G, NW_004775428.1:g.537881C>T, NG_000012.2:g.12902C>G, NG_000012.2:g.12902C>T, NC_000005.9:g.140682272C>G, NC_000005.9:g.140682272C>T, NM_031947.4:c.*255G>C, NM_031947.4:c.*255G>A, NM_031947.3:c.*255G>C, NM_031947.3:c.*255G>A, NM_031947.2:c.*255G>C, NM_031947.2:c.*255G>A

Select item 147832510719.

rs1478325107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:141304150 (GRCh38)
5:140683717 (GRCh37)
Canonical SPDI:: NC_000005.10:141304149:A:G,NC_000005.10:141304149:A:T
Gene:: SLC25A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141304150A>G, NC_000005.10:g.141304150A>T, NW_004775428.1:g.539326A>G, NW_004775428.1:g.539326A>T, NG_000012.2:g.14347A>G, NG_000012.2:g.14347A>T, NC_000005.9:g.140683717A>G, NC_000005.9:g.140683717A>T

Select item 147772930120.

rs1477729301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:141302228 (GRCh38)
5:140681795 (GRCh37)
Canonical SPDI:: NC_000005.10:141302227:C:A,NC_000005.10:141302227:C:T
Gene:: SLC25A2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141302228C>A, NC_000005.10:g.141302228C>T, NW_004775428.1:g.537404C>A, NW_004775428.1:g.537404C>T, NG_000012.2:g.12425C>A, NG_000012.2:g.12425C>T, NC_000005.9:g.140681795C>A, NC_000005.9:g.140681795C>T

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