SNP Links for Gene (Select 392465) - SNP

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Select item 14915484831.

rs1491548483 has merged into rs66661999 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:48765589 (GRCh38)
X:48623993 (GRCh37)
Canonical SPDI:: NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:48765577:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.00132/5 (1000Genomes)
HGVS:: NC_000023.11:g.48765589_48765602del, NC_000023.11:g.48765590_48765602del, NC_000023.11:g.48765592_48765602del, NC_000023.11:g.48765593_48765602del, NC_000023.11:g.48765594_48765602del, NC_000023.11:g.48765595_48765602del, NC_000023.11:g.48765596_48765602del, NC_000023.11:g.48765597_48765602del, NC_000023.11:g.48765598_48765602del, NC_000023.11:g.48765599_48765602del, NC_000023.11:g.48765600_48765602del, NC_000023.11:g.48765601_48765602del, NC_000023.11:g.48765602del, NC_000023.11:g.48765602dup, NC_000023.11:g.48765601_48765602dup, NC_000023.11:g.48765600_48765602dup, NC_000023.11:g.48765599_48765602dup, NC_000023.11:g.48765598_48765602dup, NC_000023.11:g.48765597_48765602dup, NC_000023.11:g.48765596_48765602dup, NC_000023.11:g.48765595_48765602dup, NC_000023.11:g.48765594_48765602dup, NC_000023.11:g.48765593_48765602dup, NC_000023.11:g.48765592_48765602dup, NC_000023.11:g.48765589_48765602dup, NC_000023.11:g.48765578_48765602dup, NW_004070880.2:g.1005018_1005031del, NW_004070880.2:g.1005019_1005031del, NW_004070880.2:g.1005021_1005031del, NW_004070880.2:g.1005022_1005031del, NW_004070880.2:g.1005023_1005031del, NW_004070880.2:g.1005024_1005031del, NW_004070880.2:g.1005025_1005031del, NW_004070880.2:g.1005026_1005031del, NW_004070880.2:g.1005027_1005031del, NW_004070880.2:g.1005028_1005031del, NW_004070880.2:g.1005029_1005031del, NW_004070880.2:g.1005030_1005031del, NW_004070880.2:g.1005031del, NW_004070880.2:g.1005031dup, NW_004070880.2:g.1005030_1005031dup, NW_004070880.2:g.1005029_1005031dup, NW_004070880.2:g.1005028_1005031dup, NW_004070880.2:g.1005027_1005031dup, NW_004070880.2:g.1005026_1005031dup, NW_004070880.2:g.1005025_1005031dup, NW_004070880.2:g.1005024_1005031dup, NW_004070880.2:g.1005023_1005031dup, NW_004070880.2:g.1005022_1005031dup, NW_004070880.2:g.1005021_1005031dup, NW_004070880.2:g.1005018_1005031dup, NW_004070880.2:g.1005007_1005031dup, NG_021291.2:g.8844_8857del, NG_021291.2:g.8845_8857del, NG_021291.2:g.8847_8857del, NG_021291.2:g.8848_8857del, NG_021291.2:g.8849_8857del, NG_021291.2:g.8850_8857del, NG_021291.2:g.8851_8857del, NG_021291.2:g.8852_8857del, NG_021291.2:g.8853_8857del, NG_021291.2:g.8854_8857del, NG_021291.2:g.8855_8857del, NG_021291.2:g.8856_8857del, NG_021291.2:g.8857del, NG_021291.2:g.8857dup, NG_021291.2:g.8856_8857dup, NG_021291.2:g.8855_8857dup, NG_021291.2:g.8854_8857dup, NG_021291.2:g.8853_8857dup, NG_021291.2:g.8852_8857dup, NG_021291.2:g.8851_8857dup, NG_021291.2:g.8850_8857dup, NG_021291.2:g.8849_8857dup, NG_021291.2:g.8848_8857dup, NG_021291.2:g.8847_8857dup, NG_021291.2:g.8844_8857dup, NG_021291.2:g.8833_8857dup, NG_021291.1:g.8841_8854del, NG_021291.1:g.8842_8854del, NG_021291.1:g.8844_8854del, NG_021291.1:g.8845_8854del, NG_021291.1:g.8846_8854del, NG_021291.1:g.8847_8854del, NG_021291.1:g.8848_8854del, NG_021291.1:g.8849_8854del, NG_021291.1:g.8850_8854del, NG_021291.1:g.8851_8854del, NG_021291.1:g.8852_8854del, NG_021291.1:g.8853_8854del, NG_021291.1:g.8854del, NG_021291.1:g.8854dup, NG_021291.1:g.8853_8854dup, NG_021291.1:g.8852_8854dup, NG_021291.1:g.8851_8854dup, NG_021291.1:g.8850_8854dup, NG_021291.1:g.8849_8854dup, NG_021291.1:g.8848_8854dup, NG_021291.1:g.8847_8854dup, NG_021291.1:g.8846_8854dup, NG_021291.1:g.8845_8854dup, NG_021291.1:g.8844_8854dup, NG_021291.1:g.8841_8854dup, NG_021291.1:g.8830_8854dup, NC_000023.10:g.48623994_48624007del, NC_000023.10:g.48623995_48624007del, NC_000023.10:g.48623997_48624007del, NC_000023.10:g.48623998_48624007del, NC_000023.10:g.48623999_48624007del, NC_000023.10:g.48624000_48624007del, NC_000023.10:g.48624001_48624007del, NC_000023.10:g.48624002_48624007del, NC_000023.10:g.48624003_48624007del, NC_000023.10:g.48624004_48624007del, NC_000023.10:g.48624005_48624007del, NC_000023.10:g.48624006_48624007del, NC_000023.10:g.48624007del, NC_000023.10:g.48624007dup, NC_000023.10:g.48624006_48624007dup, NC_000023.10:g.48624005_48624007dup, NC_000023.10:g.48624004_48624007dup, NC_000023.10:g.48624003_48624007dup, NC_000023.10:g.48624002_48624007dup, NC_000023.10:g.48624001_48624007dup, NC_000023.10:g.48624000_48624007dup, NC_000023.10:g.48623999_48624007dup, NC_000023.10:g.48623998_48624007dup, NC_000023.10:g.48623997_48624007dup, NC_000023.10:g.48623994_48624007dup, NC_000023.10:g.48623983_48624007dup

Select item 14913377062.

rs1491337706 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:48765578 (GRCh38)
X:48623983 (GRCh37)
Canonical SPDI:: NC_000023.11:48765578::G
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.0001/2 (GnomAD)
HGVS:: NC_000023.11:g.48765578_48765579insG, NW_004070880.2:g.1005007_1005008insG, NG_021291.2:g.8833_8834insG, NG_021291.1:g.8830_8831insG, NC_000023.10:g.48623982_48623983insG

Select item 14909152123.

rs1490915212 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: X:48760334 (GRCh38)
X:48618738 (GRCh37)
Canonical SPDI:: NC_000023.11:48760327:ACACACAC:ACACAC
Gene:: GLOD5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48760328AC[3], NW_004070880.2:g.999757AC[3], NG_021291.2:g.3583AC[3], NG_021291.1:g.3579AC[3], NC_000023.10:g.48618732AC[3]

Select item 14908442094.

rs1490844209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48761693 (GRCh38)
X:48620097 (GRCh37)
Canonical SPDI:: NC_000023.11:48761692:A:G
Gene:: GLOD5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000038/4 (GnomAD)
G=0.000098/26 (TOPMED)
G=0.00072/9 (TOMMO)
HGVS:: NC_000023.11:g.48761693A>G, NW_004070880.2:g.1001122A>G, NG_021291.2:g.4948A>G, NG_021291.1:g.4944A>G, NG_070973.1:g.295A>G, NC_000023.10:g.48620097A>G

Select item 14906070175.

rs1490607017 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:48772084 (GRCh38)
X:48630500 (GRCh37)
Canonical SPDI:: NC_000023.11:48772082:ACA:A
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48772084_48772085del, NW_004070880.2:g.1011513_1011514del, NG_021291.2:g.15339_15340del, NG_021291.1:g.15347_15348del, NC_000023.10:g.48630500_48630501del

Select item 14904238056.

rs1490423805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48761040 (GRCh38)
X:48619444 (GRCh37)
Canonical SPDI:: NC_000023.11:48761039:A:G
Gene:: GLOD5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.48761040A>G, NW_004070880.2:g.1000469A>G, NG_021291.2:g.4295A>G, NG_021291.1:g.4291A>G, NC_000023.10:g.48619444A>G

Select item 14903520827.

rs1490352082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48762243 (GRCh38)
X:48620647 (GRCh37)
Canonical SPDI:: NC_000023.11:48762242:G:T
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48762243G>T, NW_004070880.2:g.1001672G>T, NG_021291.2:g.5498G>T, NG_021291.1:g.5494G>T, NG_070973.1:g.845G>T, NC_000023.10:g.48620647G>T

Select item 14903320678.

rs1490332067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48768240 (GRCh38)
X:48626657 (GRCh37)
Canonical SPDI:: NC_000023.11:48768239:T:C
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.48768240T>C, NW_004070880.2:g.1007669T>C, NG_021291.2:g.11495T>C, NG_021291.1:g.11504T>C, NC_000023.10:g.48626657T>C

Select item 14903006569.

rs1490300656 has merged into rs1275749280 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: X:48769591 (GRCh38)
X:48628008 (GRCh37)
Canonical SPDI:: NC_000023.11:48769589:AGAGA:A,NC_000023.11:48769589:AGAGA:AGA
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000023.11:g.48769591_48769594del, NC_000023.11:g.48769591GA[1], NW_004070880.2:g.1009020_1009023del, NW_004070880.2:g.1009020GA[1], NG_021291.2:g.12846_12849del, NG_021291.2:g.12846GA[1], NG_021291.1:g.12855_12858del, NG_021291.1:g.12855GA[1], NC_000023.10:g.48628008_48628011del, NC_000023.10:g.48628008GA[1]

Select item 149009875510.

rs1490098755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48759637 (GRCh38)
X:48618040 (GRCh37)
Canonical SPDI:: NC_000023.11:48759636:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.48759637G>C, NW_004070880.2:g.999066G>C, NG_021291.2:g.2892G>C, NG_021291.1:g.2887G>C, NC_000023.10:g.48618040G>C

Select item 148987820411.

rs1489878204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48768969 (GRCh38)
X:48627386 (GRCh37)
Canonical SPDI:: NC_000023.11:48768968:G:A
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48768969G>A, NW_004070880.2:g.1008398G>A, NG_021291.2:g.12224G>A, NG_021291.1:g.12233G>A, NC_000023.10:g.48627386G>A

Select item 148978550112.

rs1489785501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48771535 (GRCh38)
X:48629951 (GRCh37)
Canonical SPDI:: NC_000023.11:48771534:C:T
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48771535C>T, NW_004070880.2:g.1010964C>T, NG_021291.2:g.14790C>T, NG_021291.1:g.14798C>T, NC_000023.10:g.48629951C>T

Select item 148949524113.

rs1489495241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48771979 (GRCh38)
X:48630395 (GRCh37)
Canonical SPDI:: NC_000023.11:48771978:G:A
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48771979G>A, NW_004070880.2:g.1011408G>A, NG_021291.2:g.15234G>A, NG_021291.1:g.15242G>A, NC_000023.10:g.48630395G>A

Select item 148943898114.

rs1489438981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48763216 (GRCh38)
X:48621620 (GRCh37)
Canonical SPDI:: NC_000023.11:48763215:G:A
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.48763216G>A, NW_004070880.2:g.1002645G>A, NG_021291.2:g.6471G>A, NG_021291.1:g.6467G>A, NC_000023.10:g.48621620G>A

Select item 148940860815.

rs1489408608 has merged into rs1163188143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: X:48764565 (GRCh38)
X:48622969 (GRCh37)
Canonical SPDI:: NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:48764552:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.375/3 (KOREAN)
HGVS:: NC_000023.11:g.48764565_48764570del, NC_000023.11:g.48764567_48764570del, NC_000023.11:g.48764568_48764570del, NC_000023.11:g.48764569_48764570del, NC_000023.11:g.48764570del, NC_000023.11:g.48764570dup, NC_000023.11:g.48764569_48764570dup, NC_000023.11:g.48764568_48764570dup, NW_004070880.2:g.1003994_1003999del, NW_004070880.2:g.1003996_1003999del, NW_004070880.2:g.1003997_1003999del, NW_004070880.2:g.1003998_1003999del, NW_004070880.2:g.1003999del, NW_004070880.2:g.1003999dup, NW_004070880.2:g.1003998_1003999dup, NW_004070880.2:g.1003997_1003999dup, NG_021291.2:g.7820_7825del, NG_021291.2:g.7822_7825del, NG_021291.2:g.7823_7825del, NG_021291.2:g.7824_7825del, NG_021291.2:g.7825del, NG_021291.2:g.7825dup, NG_021291.2:g.7824_7825dup, NG_021291.2:g.7823_7825dup, NG_021291.1:g.7816_7821del, NG_021291.1:g.7818_7821del, NG_021291.1:g.7819_7821del, NG_021291.1:g.7820_7821del, NG_021291.1:g.7821del, NG_021291.1:g.7821dup, NG_021291.1:g.7820_7821dup, NG_021291.1:g.7819_7821dup, NC_000023.10:g.48622969_48622974del, NC_000023.10:g.48622971_48622974del, NC_000023.10:g.48622972_48622974del, NC_000023.10:g.48622973_48622974del, NC_000023.10:g.48622974del, NC_000023.10:g.48622974dup, NC_000023.10:g.48622973_48622974dup, NC_000023.10:g.48622972_48622974dup

Select item 148920445816.

rs1489204458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48768069 (GRCh38)
X:48626486 (GRCh37)
Canonical SPDI:: NC_000023.11:48768068:G:A
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48768069G>A, NW_004070880.2:g.1007498G>A, NG_021291.2:g.11324G>A, NG_021291.1:g.11333G>A, NC_000023.10:g.48626486G>A

Select item 148894529617.

rs1488945296 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:48763659 (GRCh38)
X:48622063 (GRCh37)
Canonical SPDI:: NC_000023.11:48763658:C:
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00054/7 (TOMMO)
HGVS:: NC_000023.11:g.48763659del, NW_004070880.2:g.1003088del, NG_021291.2:g.6914del, NG_021291.1:g.6910del, NC_000023.10:g.48622063del

Select item 148891820118.

rs1488918201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48765003 (GRCh38)
X:48623407 (GRCh37)
Canonical SPDI:: NC_000023.11:48765002:G:A
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.48765003G>A, NW_004070880.2:g.1004432G>A, NG_021291.2:g.8258G>A, NG_021291.1:g.8254G>A, NG_076164.1:g.79G>A, NC_000023.10:g.48623407G>A

Select item 148848378119.

rs1488483781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:48773480 (GRCh38)
X:48631896 (GRCh37)
Canonical SPDI:: NC_000023.11:48773479:C:G,NC_000023.11:48773479:C:T
Gene:: GLOD5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.48773480C>G, NC_000023.11:g.48773480C>T, NW_004070880.2:g.1012909C>G, NW_004070880.2:g.1012909C>T, NG_021291.2:g.16735C>G, NG_021291.2:g.16735C>T, NG_021291.1:g.16743C>G, NG_021291.1:g.16743C>T, NM_001080489.3:c.*45C>G, NM_001080489.3:c.*45C>T, NM_001080489.2:c.*45C>G, NM_001080489.2:c.*45C>T, NC_000023.10:g.48631896C>G, NC_000023.10:g.48631896C>T

Select item 148824583320.

rs1488245833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48772229 (GRCh38)
X:48630645 (GRCh37)
Canonical SPDI:: NC_000023.11:48772228:C:T
Gene:: GLOD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48772229C>T, NW_004070880.2:g.1011658C>T, NG_021291.2:g.15484C>T, NG_021291.1:g.15492C>T, NC_000023.10:g.48630645C>T

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