SNP Links for Gene (Select 79849) - SNP

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Select item 14914896211.

rs1491489621 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119185354 (GRCh38)
11:119056064 (GRCh37)
Canonical SPDI:: NC_000011.10:119185354:G:GG
Gene:: PDZD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.119185355dup, NC_000011.9:g.119056064dup, NG_047185.1:g.22022dup

Select item 14914384752.

rs1491438475 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:119185355 (GRCh38)
11:119056064 (GRCh37)
Canonical SPDI:: NC_000011.10:119185353:AGA:A
Gene:: PDZD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119185355_119185356del, NC_000011.9:g.119056064_119056065del, NG_047185.1:g.22022_22023del

Select item 14908858593.

rs1490885859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:119187825 (GRCh38)
11:119058534 (GRCh37)
Canonical SPDI:: NC_000011.10:119187824:C:G
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_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_000011.10:g.119187825C>G, NC_000011.9:g.119058534C>G

Select item 14907303724.

rs1490730372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:119186786 (GRCh38)
11:119057495 (GRCh37)
Canonical SPDI:: NC_000011.10:119186785:C:A,NC_000011.10:119186785:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119186786C>A, NC_000011.10:g.119186786C>T, NC_000011.9:g.119057495C>A, NC_000011.9:g.119057495C>T

Select item 14905681425.

rs1490568142 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119187152 (GRCh38)
11:119057862 (GRCh37)
Canonical SPDI:: NC_000011.10:119187152::G
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
G=0.000257/36 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.119187152_119187153insG, NC_000011.9:g.119057861_119057862insG

Select item 14905462036.

rs1490546203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119187992 (GRCh38)
11:119058701 (GRCh37)
Canonical SPDI:: NC_000011.10:119187991:A:G
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119187992A>G, NC_000011.9:g.119058701A>G, NM_024791.4:c.668A>G, NM_024791.3:c.668A>G, XM_011543002.3:c.908A>G, XM_011543002.2:c.908A>G, XM_011543002.1:c.908A>G, XM_011543001.3:c.908A>G, XM_011543001.2:c.908A>G, XM_011543001.1:c.908A>G, XM_011543005.3:c.713A>G, XM_011543005.2:c.713A>G, XM_011543005.1:c.713A>G, XM_017018334.2:c.866A>G, XM_017018334.1:c.866A>G, NR_033122.2:n.806A>G, NR_033122.1:n.824A>G, NM_001168468.2:c.710A>G, NM_001168468.1:c.710A>G, XM_017018335.2:c.908A>G, XM_017018335.1:c.908A>G, XM_017018336.2:c.908A>G, XM_017018336.1:c.908A>G, XM_017018337.2:c.*74A>G, XM_017018337.1:c.*74A>G, XM_047427615.1:c.671A>G, NP_079067.3:p.Glu223Gly, XP_011541304.1:p.Glu303Gly, XP_011541303.1:p.Glu303Gly, XP_011541307.1:p.Glu238Gly, XP_016873823.1:p.Glu289Gly, NP_001161940.1:p.Glu237Gly, XP_016873824.1:p.Glu303Gly, XP_016873825.1:p.Glu303Gly, XP_047283571.1:p.Glu224Gly

Select item 14903173687.

rs1490317368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119183588 (GRCh38)
11:119054297 (GRCh37)
Canonical SPDI:: NC_000011.10:119183587:G:A
Gene:: NLRX1 (Varview), PDZD3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119183588G>A, NC_000011.9:g.119054297G>A, NG_047185.1:g.20255G>A, NM_024618.4:c.*149G>A, NM_024618.3:c.*149G>A, NM_024618.2:c.*149G>A, NM_001282144.2:c.*149G>A, NM_001282144.1:c.*149G>A, NM_001282143.2:c.*149G>A, NM_001282143.1:c.*149G>A, NM_001282358.2:c.*149G>A, NM_001282358.1:c.*149G>A, XM_005271669.2:c.*149G>A, XM_005271669.1:c.*149G>A, XM_011542980.2:c.*149G>A, XM_011542980.1:c.*149G>A, XM_047427589.1:c.*149G>A

Select item 14900336388.

rs1490033638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119186830 (GRCh38)
11:119057539 (GRCh37)
Canonical SPDI:: NC_000011.10:119186829:A:G
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119186830A>G, NC_000011.9:g.119057539A>G

Select item 14898349869.

rs1489834986 has merged into rs372668954 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:119187147 (GRCh38)
11:119057856 (GRCh37)
Canonical SPDI:: NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119187140:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA=0.00175/1 (NorthernSweden)
HGVS:: NC_000011.10:g.119187147_119187158del, NC_000011.10:g.119187150_119187158del, NC_000011.10:g.119187151_119187158del, NC_000011.10:g.119187152_119187158del, NC_000011.10:g.119187153_119187158del, NC_000011.10:g.119187155_119187158del, NC_000011.10:g.119187156_119187158del, NC_000011.10:g.119187157_119187158del, NC_000011.10:g.119187158del, NC_000011.10:g.119187158dup, NC_000011.10:g.119187157_119187158dup, NC_000011.10:g.119187156_119187158dup, NC_000011.10:g.119187155_119187158dup, NC_000011.10:g.119187154_119187158dup, NC_000011.10:g.119187153_119187158dup, NC_000011.10:g.119187146_119187158dup, NC_000011.10:g.119187141_119187158A[34]CAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.119057856_119057867del, NC_000011.9:g.119057859_119057867del, NC_000011.9:g.119057860_119057867del, NC_000011.9:g.119057861_119057867del, NC_000011.9:g.119057862_119057867del, NC_000011.9:g.119057864_119057867del, NC_000011.9:g.119057865_119057867del, NC_000011.9:g.119057866_119057867del, NC_000011.9:g.119057867del, NC_000011.9:g.119057867dup, NC_000011.9:g.119057866_119057867dup, NC_000011.9:g.119057865_119057867dup, NC_000011.9:g.119057864_119057867dup, NC_000011.9:g.119057863_119057867dup, NC_000011.9:g.119057862_119057867dup, NC_000011.9:g.119057855_119057867dup, NC_000011.9:g.119057850_119057867A[34]CAAAAAAAAAAAAAAAAAAAA[1]

Select item 148945123410.

rs1489451234 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:119184072 (GRCh38)
11:119054781 (GRCh37)
Canonical SPDI:: NC_000011.10:119184071:TTT:TT
Gene:: NLRX1 (Varview), PDZD3 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119184074del, NC_000011.9:g.119054783del, NG_047185.1:g.20741del

Select item 148941943011.

rs1489419430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:119185102 (GRCh38)
11:119055811 (GRCh37)
Canonical SPDI:: NC_000011.10:119185101:T:A
Gene:: PDZD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119185102T>A, NC_000011.9:g.119055811T>A, NG_047185.1:g.21769T>A

Select item 148920186312.

rs1489201863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119187569 (GRCh38)
11:119058278 (GRCh37)
Canonical SPDI:: NC_000011.10:119187568:C:T
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119187569C>T, NC_000011.9:g.119058278C>T, NM_024791.4:c.526C>T, NM_024791.3:c.526C>T, XM_011543002.3:c.724C>T, XM_011543002.2:c.724C>T, XM_011543002.1:c.724C>T, XM_011543001.3:c.724C>T, XM_011543001.2:c.724C>T, XM_011543001.1:c.724C>T, XM_011543005.3:c.529C>T, XM_011543005.2:c.529C>T, XM_011543005.1:c.529C>T, XM_017018334.2:c.724C>T, XM_017018334.1:c.724C>T, NR_033122.2:n.622C>T, NR_033122.1:n.640C>T, NM_001168468.2:c.526C>T, NM_001168468.1:c.526C>T, XM_017018335.2:c.724C>T, XM_017018335.1:c.724C>T, XM_017018336.2:c.724C>T, XM_017018336.1:c.724C>T, XM_017018337.2:c.724C>T, XM_017018337.1:c.724C>T, XM_047427615.1:c.487C>T, NP_079067.3:p.Gln176Ter, XP_011541304.1:p.Gln242Ter, XP_011541303.1:p.Gln242Ter, XP_011541307.1:p.Gln177Ter, XP_016873823.1:p.Gln242Ter, NP_001161940.1:p.Gln176Ter, XP_016873824.1:p.Gln242Ter, XP_016873825.1:p.Gln242Ter, XP_016873826.1:p.Gln242Ter, XP_047283571.1:p.Gln163Ter

Select item 148899337813.

rs1488993378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:119187593 (GRCh38)
11:119058302 (GRCh37)
Canonical SPDI:: NC_000011.10:119187592:A:C
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119187593A>C, NC_000011.9:g.119058302A>C, NM_024791.4:c.550A>C, NM_024791.3:c.550A>C, XM_011543002.3:c.748A>C, XM_011543002.2:c.748A>C, XM_011543002.1:c.748A>C, XM_011543001.3:c.748A>C, XM_011543001.2:c.748A>C, XM_011543001.1:c.748A>C, XM_011543005.3:c.553A>C, XM_011543005.2:c.553A>C, XM_011543005.1:c.553A>C, XM_017018334.2:c.748A>C, XM_017018334.1:c.748A>C, NR_033122.2:n.646A>C, NR_033122.1:n.664A>C, NM_001168468.2:c.550A>C, NM_001168468.1:c.550A>C, XM_017018335.2:c.748A>C, XM_017018335.1:c.748A>C, XM_017018336.2:c.748A>C, XM_017018336.1:c.748A>C, XM_017018337.2:c.748A>C, XM_017018337.1:c.748A>C, XM_047427615.1:c.511A>C, NP_079067.3:p.Ser184Arg, XP_011541304.1:p.Ser250Arg, XP_011541303.1:p.Ser250Arg, XP_011541307.1:p.Ser185Arg, XP_016873823.1:p.Ser250Arg, NP_001161940.1:p.Ser184Arg, XP_016873824.1:p.Ser250Arg, XP_016873825.1:p.Ser250Arg, XP_016873826.1:p.Ser250Arg, XP_047283571.1:p.Ser171Arg

Select item 148883461614.

rs1488834616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119183999 (GRCh38)
11:119054708 (GRCh37)
Canonical SPDI:: NC_000011.10:119183998:C:T
Gene:: NLRX1 (Varview), PDZD3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119183999C>T, NC_000011.9:g.119054708C>T, NG_047185.1:g.20666C>T, NM_024618.4:c.*560C>T, NM_024618.3:c.*560C>T, NM_024618.2:c.*560C>T, NM_001282144.2:c.*560C>T, NM_001282144.1:c.*560C>T, NM_001282143.2:c.*560C>T, NM_001282143.1:c.*560C>T, NM_001282358.2:c.*560C>T, NM_001282358.1:c.*560C>T, NM_170722.2:c.*19C>T, NM_170722.1:c.*19C>T, XM_005271669.2:c.*560C>T, XM_005271669.1:c.*560C>T, XM_011542980.2:c.*560C>T, XM_011542980.1:c.*560C>T, XM_006718904.2:c.*19C>T, XM_006718904.1:c.*19C>T, XM_047427589.1:c.*560C>T, XM_047427586.1:c.*19C>T, XM_047427588.1:c.*19C>T, XM_047427587.1:c.*19C>T

Select item 148870242315.

rs1488702423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119189975 (GRCh38)
11:119060684 (GRCh37)
Canonical SPDI:: NC_000011.10:119189974:G:A
Gene:: PDZD3 (Varview), CCDC153 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119189975G>A, NC_000011.9:g.119060684G>A, NM_024791.4:c.*483G>A, NM_024791.3:c.*483G>A, XM_011543002.3:c.*483G>A, XM_011543002.2:c.*483G>A, XM_011543001.3:c.*483G>A, XM_011543001.2:c.*483G>A, XM_011543005.3:c.*483G>A, XM_011543005.2:c.*483G>A, XM_017018334.2:c.*483G>A, XM_017018334.1:c.*483G>A, NR_033122.2:n.2097G>A, NR_033122.1:n.2115G>A, NM_001168468.2:c.*483G>A, NM_001168468.1:c.*483G>A, NM_001145018.2:c.*325C>T, XM_047427615.1:c.*483G>A

Select item 148864304516.

rs1488643045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:119187095 (GRCh38)
11:119057804 (GRCh37)
Canonical SPDI:: NC_000011.10:119187094:G:A,NC_000011.10:119187094:G:C
Gene:: PDZD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.119187095G>A, NC_000011.10:g.119187095G>C, NC_000011.9:g.119057804G>A, NC_000011.9:g.119057804G>C

Select item 148785933517.

rs1487859335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119184318 (GRCh38)
11:119055027 (GRCh37)
Canonical SPDI:: NC_000011.10:119184317:G:A
Gene:: NLRX1 (Varview), PDZD3 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_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_000011.10:g.119184318G>A, NC_000011.9:g.119055027G>A, NG_047185.1:g.20985G>A

Select item 148572905618.

rs1485729056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119187600 (GRCh38)
11:119058309 (GRCh37)
Canonical SPDI:: NC_000011.10:119187599:G:C
Gene:: PDZD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119187600G>C, NC_000011.9:g.119058309G>C, NM_024791.4:c.557G>C, NM_024791.3:c.557G>C, XM_011543002.3:c.755G>C, XM_011543002.2:c.755G>C, XM_011543002.1:c.755G>C, XM_011543001.3:c.755G>C, XM_011543001.2:c.755G>C, XM_011543001.1:c.755G>C, XM_011543005.3:c.560G>C, XM_011543005.2:c.560G>C, XM_011543005.1:c.560G>C, XM_017018334.2:c.755G>C, XM_017018334.1:c.755G>C, NR_033122.2:n.653G>C, NR_033122.1:n.671G>C, NM_001168468.2:c.557G>C, NM_001168468.1:c.557G>C, XM_017018335.2:c.755G>C, XM_017018335.1:c.755G>C, XM_017018336.2:c.755G>C, XM_017018336.1:c.755G>C, XM_017018337.2:c.755G>C, XM_017018337.1:c.755G>C, XM_047427615.1:c.518G>C, NP_079067.3:p.Gly186Ala, XP_011541304.1:p.Gly252Ala, XP_011541303.1:p.Gly252Ala, XP_011541307.1:p.Gly187Ala, XP_016873823.1:p.Gly252Ala, NP_001161940.1:p.Gly186Ala, XP_016873824.1:p.Gly252Ala, XP_016873825.1:p.Gly252Ala, XP_016873826.1:p.Gly252Ala, XP_047283571.1:p.Gly173Ala

Select item 148570018219.

rs1485700182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119190246 (GRCh38)
11:119060955 (GRCh37)
Canonical SPDI:: NC_000011.10:119190245:C:T
Gene:: PDZD3 (Varview), CCDC153 (Varview), SNORD150 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119190246C>T, NC_000011.9:g.119060955C>T, NM_001145018.2:c.*54G>A

Select item 148438590720.

rs1484385907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119184861 (GRCh38)
11:119055570 (GRCh37)
Canonical SPDI:: NC_000011.10:119184860:A:G
Gene:: PDZD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000091/24 (TOPMED)
G=0.000684/2 (KOREAN)
G=0.001026/17 (TOMMO)
G=0.001638/3 (Korea1K)
HGVS:: NC_000011.10:g.119184861A>G, NC_000011.9:g.119055570A>G, NG_047185.1:g.21528A>G

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