SNP Links for Gene (Select 114049) - SNP

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Select item 14915399001.

rs1491539900 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 7:73684618 (GRCh38)
7:73098949 (GRCh37)
Canonical SPDI:: NC_000007.14:73684618::A,NC_000007.14:73684618::C,NC_000007.14:73684618::T
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.73684618_73684619insA, NC_000007.14:g.73684618_73684619insC, NC_000007.14:g.73684618_73684619insT, NC_000007.13:g.73098948_73098949insA, NC_000007.13:g.73098948_73098949insC, NC_000007.13:g.73098948_73098949insT, NW_003871064.1:g.1213854_1213855insA, NW_003871064.1:g.1213854_1213855insC, NW_003871064.1:g.1213854_1213855insT

Select item 14912337052.

rs1491233705 has merged into rs35734688 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 7:73684625 (GRCh38)
7:73098955 (GRCh37)
Canonical SPDI:: NC_000007.14:73684617:GGGGGGGGG:GGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGGGGGGGG,NC_000007.14:73684617:GGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000007.14:g.73684625_73684626del, NC_000007.14:g.73684626del, NC_000007.14:g.73684626dup, NC_000007.14:g.73684625_73684626dup, NC_000007.14:g.73684624_73684626dup, NC_000007.14:g.73684623_73684626dup, NC_000007.14:g.73684622_73684626dup, NC_000007.14:g.73684621_73684626dup, NC_000007.13:g.73098955_73098956del, NC_000007.13:g.73098956del, NC_000007.13:g.73098956dup, NC_000007.13:g.73098955_73098956dup, NC_000007.13:g.73098954_73098956dup, NC_000007.13:g.73098953_73098956dup, NC_000007.13:g.73098952_73098956dup, NC_000007.13:g.73098951_73098956dup, NW_003871064.1:g.1213861_1213862del, NW_003871064.1:g.1213862del, NW_003871064.1:g.1213862dup, NW_003871064.1:g.1213861_1213862dup, NW_003871064.1:g.1213860_1213862dup, NW_003871064.1:g.1213859_1213862dup, NW_003871064.1:g.1213858_1213862dup, NW_003871064.1:g.1213857_1213862dup

Select item 14911608683.

rs1491160868 has merged into rs35703206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:73686108 (GRCh38)
7:73100438 (GRCh37)
Canonical SPDI:: NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:73686098:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2939/1472 (1000Genomes)
HGVS:: NC_000007.14:g.73686108_73686113del, NC_000007.14:g.73686111_73686113del, NC_000007.14:g.73686112_73686113del, NC_000007.14:g.73686113del, NC_000007.14:g.73686113dup, NC_000007.14:g.73686112_73686113dup, NC_000007.14:g.73686111_73686113dup, NC_000007.14:g.73686106_73686113dup, NC_000007.13:g.73100438_73100443del, NC_000007.13:g.73100441_73100443del, NC_000007.13:g.73100442_73100443del, NC_000007.13:g.73100443del, NC_000007.13:g.73100443dup, NC_000007.13:g.73100442_73100443dup, NC_000007.13:g.73100441_73100443dup, NC_000007.13:g.73100436_73100443dup, NW_003871064.1:g.1215344_1215349del, NW_003871064.1:g.1215347_1215349del, NW_003871064.1:g.1215348_1215349del, NW_003871064.1:g.1215349del, NW_003871064.1:g.1215349dup, NW_003871064.1:g.1215348_1215349dup, NW_003871064.1:g.1215347_1215349dup, NW_003871064.1:g.1215342_1215349dup

Select item 14908702634.

rs1490870263 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 7:73687282 (GRCh38)
7:73101612 (GRCh37)
Canonical SPDI:: NC_000007.14:73687281:TTTTTT:TTTTT,NC_000007.14:73687281:TTTTTT:TTTTTTT
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.73687287del, NC_000007.14:g.73687287dup, NC_000007.13:g.73101617del, NC_000007.13:g.73101617dup, NW_003871064.1:g.1216523del, NW_003871064.1:g.1216523dup

Select item 14906632905.

rs1490663290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73695209 (GRCh38)
7:73109539 (GRCh37)
Canonical SPDI:: NC_000007.14:73695208:C:T
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.73695209C>T, NC_000007.13:g.73109539C>T, NW_003871064.1:g.1224445C>T

Select item 14904263576.

rs1490426357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:73687845 (GRCh38)
7:73102175 (GRCh37)
Canonical SPDI:: NC_000007.14:73687844:A:T
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73687845A>T, NC_000007.13:g.73102175A>T, NW_003871064.1:g.1217081A>T

Select item 14903806637.

rs1490380663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73686640 (GRCh38)
7:73100970 (GRCh37)
Canonical SPDI:: NC_000007.14:73686639:C:A,NC_000007.14:73686639:C:T
Gene:: BUD23 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73686640C>A, NC_000007.14:g.73686640C>T, NC_000007.13:g.73100970C>A, NC_000007.13:g.73100970C>T, NW_003871064.1:g.1215876C>A, NW_003871064.1:g.1215876C>T, NM_017528.5:c.91C>A, NM_017528.5:c.91C>T, NM_017528.4:c.91C>A, NM_017528.4:c.91C>T, NR_037776.3:n.316C>A, NR_037776.3:n.316C>T, NR_037776.2:n.345C>A, NR_037776.2:n.345C>T, NM_001202560.3:c.91C>A, NM_001202560.3:c.91C>T, NM_001202560.2:c.91C>A, NM_001202560.2:c.91C>T, XM_011515779.3:c.91C>A, XM_011515779.3:c.91C>T, XM_011515779.2:c.91C>A, XM_011515779.2:c.91C>T, XM_011515779.1:c.91C>A, XM_011515779.1:c.91C>T, XM_006715847.2:c.160C>A, XM_006715847.2:c.160C>T, XM_006715847.1:c.160C>A, XM_006715847.1:c.160C>T, XM_011515778.2:c.160C>A, XM_011515778.2:c.160C>T, XM_011515778.1:c.160C>A, XM_011515778.1:c.160C>T, NR_045512.2:n.120C>A, NR_045512.2:n.120C>T, NR_045512.1:n.149C>A, NR_045512.1:n.149C>T, NP_059998.2:p.Arg31Trp, NP_001189489.1:p.Arg31Trp, XP_011514081.1:p.Arg31Trp, XP_006715910.1:p.Arg54Trp, XP_011514080.1:p.Arg54Trp

Select item 14901746758.

rs1490174675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:73694643 (GRCh38)
7:73108973 (GRCh37)
Canonical SPDI:: NC_000007.14:73694642:A:G
Gene:: BUD23 (Varview)
Functional Consequence:: 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_000007.14:g.73694643A>G, NC_000007.13:g.73108973A>G, NW_003871064.1:g.1223879A>G

Select item 14901438959.

rs1490143895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:73693642 (GRCh38)
7:73107972 (GRCh37)
Canonical SPDI:: NC_000007.14:73693639:TTTT:TT
Gene:: BUD23 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73693642_73693643del, NC_000007.13:g.73107972_73107973del, NW_003871064.1:g.1222878_1222879del, NM_017528.5:c.615_616del, NM_017528.4:c.615_616del, NR_037776.3:n.840_841del, NR_037776.2:n.869_870del, NM_001202560.3:c.615_616del, NM_001202560.2:c.615_616del, XM_011515779.3:c.615_616del, XM_011515779.2:c.615_616del, XM_011515779.1:c.615_616del, XM_006715847.2:c.684_685del, XM_006715847.1:c.684_685del, XM_011515778.2:c.684_685del, XM_011515778.1:c.684_685del, NR_045512.2:n.547_548del, NR_045512.1:n.576_577del, NP_059998.2:p.Ser206fs, NP_001189489.1:p.Ser206fs, XP_011514081.1:p.Ser206fs, XP_006715910.1:p.Ser229fs, XP_011514080.1:p.Ser229fs

Select item 148986458310.

rs1489864583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:73685259 (GRCh38)
7:73099589 (GRCh37)
Canonical SPDI:: NC_000007.14:73685258:G:A,NC_000007.14:73685258:G:T
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73685259G>A, NC_000007.14:g.73685259G>T, NC_000007.13:g.73099589G>A, NC_000007.13:g.73099589G>T, NW_003871064.1:g.1214495G>A, NW_003871064.1:g.1214495G>T

Select item 148957281311.

rs1489572813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:73694156 (GRCh38)
7:73108486 (GRCh37)
Canonical SPDI:: NC_000007.14:73694155:C:A
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73694156C>A, NC_000007.13:g.73108486C>A, NW_003871064.1:g.1223392C>A

Select item 148951218912.

rs1489512189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:73693177 (GRCh38)
7:73107507 (GRCh37)
Canonical SPDI:: NC_000007.14:73693176:C:A
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.73693177C>A, NC_000007.13:g.73107507C>A, NW_003871064.1:g.1222413C>A

Select item 148935410813.

rs1489354108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73685248 (GRCh38)
7:73099578 (GRCh37)
Canonical SPDI:: NC_000007.14:73685247:C:T
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000007.14:g.73685248C>T, NC_000007.13:g.73099578C>T, NW_003871064.1:g.1214484C>T

Select item 148924783514.

rs1489247835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:73697265 (GRCh38)
7:73111595 (GRCh37)
Canonical SPDI:: NC_000007.14:73697264:G:T
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.73697265G>T, NC_000007.13:g.73111595G>T, NG_013360.1:g.27423C>A, NW_003871064.1:g.1226501G>T

Select item 148915109715.

rs1489151097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:73683193 (GRCh38)
7:73097523 (GRCh37)
Canonical SPDI:: NC_000007.14:73683192:G:A,NC_000007.14:73683192:G:C
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.73683193G>A, NC_000007.14:g.73683193G>C, NC_000007.13:g.73097523G>A, NC_000007.13:g.73097523G>C, NW_003871064.1:g.1212429G>A, NW_003871064.1:g.1212429G>C, NM_032317.3:c.231C>T, NM_032317.3:c.231C>G, NM_032317.2:c.231C>T, NM_032317.2:c.231C>G, NP_115693.2:p.His77Gln

Select item 148904630716.

rs1489046307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73694141 (GRCh38)
7:73108471 (GRCh37)
Canonical SPDI:: NC_000007.14:73694140:T:C
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.73694141T>C, NC_000007.13:g.73108471T>C, NW_003871064.1:g.1223377T>C

Select item 148894617017.

rs1488946170 has merged into rs56229090 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:73684934 (GRCh38)
7:73099264 (GRCh37)
Canonical SPDI:: NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:73684923:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.0209/11 (NorthernSweden)
HGVS:: NC_000007.14:g.73684934_73684959del, NC_000007.14:g.73684935_73684959del, NC_000007.14:g.73684936_73684959del, NC_000007.14:g.73684937_73684959del, NC_000007.14:g.73684938_73684959del, NC_000007.14:g.73684939_73684959del, NC_000007.14:g.73684940_73684959del, NC_000007.14:g.73684941_73684959del, NC_000007.14:g.73684942_73684959del, NC_000007.14:g.73684943_73684959del, NC_000007.14:g.73684944_73684959del, NC_000007.14:g.73684945_73684959del, NC_000007.14:g.73684946_73684959del, NC_000007.14:g.73684947_73684959del, NC_000007.14:g.73684948_73684959del, NC_000007.14:g.73684949_73684959del, NC_000007.14:g.73684950_73684959del, NC_000007.14:g.73684951_73684959del, NC_000007.14:g.73684952_73684959del, NC_000007.14:g.73684953_73684959del, NC_000007.14:g.73684954_73684959del, NC_000007.14:g.73684955_73684959del, NC_000007.14:g.73684956_73684959del, NC_000007.14:g.73684957_73684959del, NC_000007.14:g.73684958_73684959del, NC_000007.14:g.73684959del, NC_000007.14:g.73684959dup, NC_000007.14:g.73684958_73684959dup, NC_000007.14:g.73684957_73684959dup, NC_000007.14:g.73684956_73684959dup, NC_000007.14:g.73684955_73684959dup, NC_000007.14:g.73684954_73684959dup, NC_000007.14:g.73684953_73684959dup, NC_000007.14:g.73684952_73684959dup, NC_000007.14:g.73684951_73684959dup, NC_000007.14:g.73684950_73684959dup, NC_000007.14:g.73684949_73684959dup, NC_000007.14:g.73684947_73684959dup, NC_000007.14:g.73684945_73684959dup, NC_000007.14:g.73684943_73684959dup, NC_000007.14:g.73684941_73684959dup, NC_000007.13:g.73099264_73099289del, NC_000007.13:g.73099265_73099289del, NC_000007.13:g.73099266_73099289del, NC_000007.13:g.73099267_73099289del, NC_000007.13:g.73099268_73099289del, NC_000007.13:g.73099269_73099289del, NC_000007.13:g.73099270_73099289del, NC_000007.13:g.73099271_73099289del, NC_000007.13:g.73099272_73099289del, NC_000007.13:g.73099273_73099289del, NC_000007.13:g.73099274_73099289del, NC_000007.13:g.73099275_73099289del, NC_000007.13:g.73099276_73099289del, NC_000007.13:g.73099277_73099289del, NC_000007.13:g.73099278_73099289del, NC_000007.13:g.73099279_73099289del, NC_000007.13:g.73099280_73099289del, NC_000007.13:g.73099281_73099289del, NC_000007.13:g.73099282_73099289del, NC_000007.13:g.73099283_73099289del, NC_000007.13:g.73099284_73099289del, NC_000007.13:g.73099285_73099289del, NC_000007.13:g.73099286_73099289del, NC_000007.13:g.73099287_73099289del, NC_000007.13:g.73099288_73099289del, NC_000007.13:g.73099289del, NC_000007.13:g.73099289dup, NC_000007.13:g.73099288_73099289dup, NC_000007.13:g.73099287_73099289dup, NC_000007.13:g.73099286_73099289dup, NC_000007.13:g.73099285_73099289dup, NC_000007.13:g.73099284_73099289dup, NC_000007.13:g.73099283_73099289dup, NC_000007.13:g.73099282_73099289dup, NC_000007.13:g.73099281_73099289dup, NC_000007.13:g.73099280_73099289dup, NC_000007.13:g.73099279_73099289dup, NC_000007.13:g.73099277_73099289dup, NC_000007.13:g.73099275_73099289dup, NC_000007.13:g.73099273_73099289dup, NC_000007.13:g.73099271_73099289dup, NW_003871064.1:g.1214170_1214195del, NW_003871064.1:g.1214171_1214195del, NW_003871064.1:g.1214172_1214195del, NW_003871064.1:g.1214173_1214195del, NW_003871064.1:g.1214174_1214195del, NW_003871064.1:g.1214175_1214195del, NW_003871064.1:g.1214176_1214195del, NW_003871064.1:g.1214177_1214195del, NW_003871064.1:g.1214178_1214195del, NW_003871064.1:g.1214179_1214195del, NW_003871064.1:g.1214180_1214195del, NW_003871064.1:g.1214181_1214195del, NW_003871064.1:g.1214182_1214195del, NW_003871064.1:g.1214183_1214195del, NW_003871064.1:g.1214184_1214195del, NW_003871064.1:g.1214185_1214195del, NW_003871064.1:g.1214186_1214195del, NW_003871064.1:g.1214187_1214195del, NW_003871064.1:g.1214188_1214195del, NW_003871064.1:g.1214189_1214195del, NW_003871064.1:g.1214190_1214195del, NW_003871064.1:g.1214191_1214195del, NW_003871064.1:g.1214192_1214195del, NW_003871064.1:g.1214193_1214195del, NW_003871064.1:g.1214194_1214195del, NW_003871064.1:g.1214195del, NW_003871064.1:g.1214195dup, NW_003871064.1:g.1214194_1214195dup, NW_003871064.1:g.1214193_1214195dup, NW_003871064.1:g.1214192_1214195dup, NW_003871064.1:g.1214191_1214195dup, NW_003871064.1:g.1214190_1214195dup, NW_003871064.1:g.1214189_1214195dup, NW_003871064.1:g.1214188_1214195dup, NW_003871064.1:g.1214187_1214195dup, NW_003871064.1:g.1214186_1214195dup, NW_003871064.1:g.1214185_1214195dup, NW_003871064.1:g.1214183_1214195dup, NW_003871064.1:g.1214181_1214195dup, NW_003871064.1:g.1214179_1214195dup, NW_003871064.1:g.1214177_1214195dup

Select item 148801502518.

rs1488015025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:73685364 (GRCh38)
7:73099694 (GRCh37)
Canonical SPDI:: NC_000007.14:73685363:A:G
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.73685364A>G, NC_000007.13:g.73099694A>G, NW_003871064.1:g.1214600A>G

Select item 148796430419.

rs1487964304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:73684659 (GRCh38)
7:73098989 (GRCh37)
Canonical SPDI:: NC_000007.14:73684658:A:C,NC_000007.14:73684658:A:T
Gene:: DNAJC30 (Varview), BUD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.001249/8 (1000Genomes)
T=0.001277/338 (TOPMED)
HGVS:: NC_000007.14:g.73684659A>C, NC_000007.14:g.73684659A>T, NC_000007.13:g.73098989A>C, NC_000007.13:g.73098989A>T, NW_003871064.1:g.1213895A>C, NW_003871064.1:g.1213895A>T

Select item 148765548220.

rs1487655482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:73687380 (GRCh38)
7:73101710 (GRCh37)
Canonical SPDI:: NC_000007.14:73687379:G:A,NC_000007.14:73687379:G:T
Gene:: BUD23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.73687380G>A, NC_000007.14:g.73687380G>T, NC_000007.13:g.73101710G>A, NC_000007.13:g.73101710G>T, NW_003871064.1:g.1216616G>A, NW_003871064.1:g.1216616G>T

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