SNP Links for Nucleotide (Select 542133193) - SNP

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Select item 14915455441.

rs1491545544 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAA>-,GAAAGAAGAAAGAA [Show Flanks]
Chromosome:: X:150481976 (GRCh38)
X:149650250 (GRCh37)
Canonical SPDI:: NC_000023.11:150481973:AAGAAAGAA:AA,NC_000023.11:150481973:AAGAAAGAA:AAGAAAGAAGAAAGAA
Gene:: MAMLD1 (Varview), LOC124905223 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAGAAAGAA=0./0 (ALFA)
AAGAAAG=0.00002/1 (GnomAD)
HGVS:: NC_000023.11:g.150481976_150481982del, NC_000023.11:g.150481976_150481982dup, NW_004070890.2:g.6006374_6006380del, NW_004070890.2:g.6006374_6006380dup, NG_017093.2:g.123679_123685del, NG_017093.2:g.123679_123685dup, NC_000023.10:g.149650250_149650256del, NC_000023.10:g.149650250_149650256dup

Select item 14915386222.

rs1491538622 has merged into rs782288545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: X:150423386 (GRCh38)
X:149591661 (GRCh37)
Canonical SPDI:: NC_000023.11:150423384:TTT:T,NC_000023.11:150423384:TTT:TT,NC_000023.11:150423384:TTT:TTTT,NC_000023.11:150423384:TTT:TTTTT
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00084/10 (ALFA)
-=0.00119/118 (GnomAD)
TT=0.99806/12782 (TOMMO)
HGVS:: NC_000023.11:g.150423386_150423387del, NC_000023.11:g.150423387del, NC_000023.11:g.150423387dup, NC_000023.11:g.150423386_150423387dup, NW_004070890.2:g.5947784_5947785del, NW_004070890.2:g.5947785del, NW_004070890.2:g.5947785dup, NW_004070890.2:g.5947784_5947785dup, NG_017093.2:g.65089_65090del, NG_017093.2:g.65090del, NG_017093.2:g.65090dup, NG_017093.2:g.65089_65090dup, NC_000023.10:g.149591660G>T, NC_000023.10:g.149591623TG[19], NC_000023.10:g.149591660del, NC_000023.10:g.149591660delinsTT, NC_000023.10:g.149591660delinsTTT

Select item 14915269193.

rs1491526919 has merged into rs56866886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:150414039 (GRCh38)
X:9 (GRCh37)
Canonical SPDI:: NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150414028:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.150414039_150414048del, NC_000023.11:g.150414041_150414048del, NC_000023.11:g.150414042_150414048del, NC_000023.11:g.150414043_150414048del, NC_000023.11:g.150414044_150414048del, NC_000023.11:g.150414045_150414048del, NC_000023.11:g.150414046_150414048del, NC_000023.11:g.150414047_150414048del, NC_000023.11:g.150414048del, NC_000023.11:g.150414048dup, NC_000023.11:g.150414047_150414048dup, NC_000023.11:g.150414046_150414048dup, NC_000023.11:g.150414045_150414048dup, NC_000023.11:g.150414044_150414048dup, NC_000023.11:g.150414043_150414048dup, NC_000023.11:g.150414042_150414048dup, NC_000023.11:g.150414041_150414048dup, NC_000023.11:g.150414040_150414048dup, NC_000023.11:g.150414039_150414048dup, NC_000023.11:g.150414038_150414048dup, NC_000023.11:g.150414036_150414048dup, NC_000023.11:g.150414035_150414048dup, NC_000023.11:g.150414031_150414048dup, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.150414048_150414049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938437_5938446del, NW_004070890.2:g.5938439_5938446del, NW_004070890.2:g.5938440_5938446del, NW_004070890.2:g.5938441_5938446del, NW_004070890.2:g.5938442_5938446del, NW_004070890.2:g.5938443_5938446del, NW_004070890.2:g.5938444_5938446del, NW_004070890.2:g.5938445_5938446del, NW_004070890.2:g.5938446del, NW_004070890.2:g.5938446dup, NW_004070890.2:g.5938445_5938446dup, NW_004070890.2:g.5938444_5938446dup, NW_004070890.2:g.5938443_5938446dup, NW_004070890.2:g.5938442_5938446dup, NW_004070890.2:g.5938441_5938446dup, NW_004070890.2:g.5938440_5938446dup, NW_004070890.2:g.5938439_5938446dup, NW_004070890.2:g.5938438_5938446dup, NW_004070890.2:g.5938437_5938446dup, NW_004070890.2:g.5938436_5938446dup, NW_004070890.2:g.5938434_5938446dup, NW_004070890.2:g.5938433_5938446dup, NW_004070890.2:g.5938429_5938446dup, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070890.2:g.5938446_5938447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55742_55751del, NG_017093.2:g.55744_55751del, NG_017093.2:g.55745_55751del, NG_017093.2:g.55746_55751del, NG_017093.2:g.55747_55751del, NG_017093.2:g.55748_55751del, NG_017093.2:g.55749_55751del, NG_017093.2:g.55750_55751del, NG_017093.2:g.55751del, NG_017093.2:g.55751dup, NG_017093.2:g.55750_55751dup, NG_017093.2:g.55749_55751dup, NG_017093.2:g.55748_55751dup, NG_017093.2:g.55747_55751dup, NG_017093.2:g.55746_55751dup, NG_017093.2:g.55745_55751dup, NG_017093.2:g.55744_55751dup, NG_017093.2:g.55743_55751dup, NG_017093.2:g.55742_55751dup, NG_017093.2:g.55741_55751dup, NG_017093.2:g.55739_55751dup, NG_017093.2:g.55738_55751dup, NG_017093.2:g.55734_55751dup, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017093.2:g.55751_55752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915195664.

rs1491519566 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAGAAAGAA [Show Flanks]
Chromosome:: X:150481969 (GRCh38)
X:149650244 (GRCh37)
Canonical SPDI:: NC_000023.11:150481969:AAGAAAGAAAGAA:AAGAAAGAAAGAAGAAAGAAAGAA
Gene:: MAMLD1 (Varview), LOC124905223 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGAAGAAAGAAAGAA=0./0 (ALFA)
AAGAAAGAAAG=0.00009/3 (GnomAD)
AAGAAAGAAAG=0.00011/2 (TOMMO)
HGVS:: NC_000023.11:g.150481972_150481982dup, NW_004070890.2:g.6006370_6006380dup, NG_017093.2:g.123675_123685dup, NC_000023.10:g.149650246_149650256dup

Select item 14915045385.

rs1491504538 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTGTG,GTGTGTGTG [Show Flanks]
Chromosome:: X:150423385 (GRCh38)
X:149591660 (GRCh37)
Canonical SPDI:: NC_000023.11:150423385::G,NC_000023.11:150423385::GTGTG,NC_000023.11:150423385::GTGTGTGTG
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.150423385_150423386insG, NC_000023.11:g.150423385_150423386insGTGTG, NC_000023.11:g.150423385_150423386insGTGTGTGTG, NW_004070890.2:g.5947783_5947784insG, NW_004070890.2:g.5947783_5947784insGTGTG, NW_004070890.2:g.5947783_5947784insGTGTGTGTG, NG_017093.2:g.65088_65089insG, NG_017093.2:g.65088_65089insGTGTG, NG_017093.2:g.65088_65089insGTGTGTGTG, NC_000023.10:g.149591660dup, NC_000023.10:g.149591660_149591662GT[2]GGTG[1], NC_000023.10:g.149591660_149591662GT[4]GGTG[1]

Select item 14914771136.

rs1491477113 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:150414028 (GRCh38)
X:-1 (GRCh37)
Canonical SPDI:: NC_000023.11:150414027:CA:
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00278/33 (ALFA)
-=0.02669/36 (GnomAD)
HGVS:: NC_000023.11:g.150414028_150414029del, NW_004070890.2:g.5938426_5938427del, NG_017093.2:g.55731_55732del

Select item 14914237677.

rs1491423767 has merged into rs1410651339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: X:150481970 (GRCh38)
X:149650244 (GRCh37)
Canonical SPDI:: NC_000023.11:150481968:AAA:A,NC_000023.11:150481968:AAA:AA,NC_000023.11:150481968:AAA:AAAA,NC_000023.11:150481968:AAA:AAAAA
Gene:: MAMLD1 (Varview), LOC124905223 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00012/2 (TOMMO)
-=0.00041/13 (GnomAD)
HGVS:: NC_000023.11:g.150481970_150481971del, NC_000023.11:g.150481971del, NC_000023.11:g.150481971dup, NC_000023.11:g.150481970_150481971dup, NW_004070890.2:g.6006368_6006369del, NW_004070890.2:g.6006369del, NW_004070890.2:g.6006369dup, NW_004070890.2:g.6006368_6006369dup, NG_017093.2:g.123673_123674del, NG_017093.2:g.123674del, NG_017093.2:g.123674dup, NG_017093.2:g.123673_123674dup, NC_000023.10:g.149650244_149650245del, NC_000023.10:g.149650245del, NC_000023.10:g.149650245dup, NC_000023.10:g.149650244_149650245dup

Select item 14913903098.

rs1491390309 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:150431750 (GRCh38)
X:149600011 (GRCh37)
Canonical SPDI:: NC_000023.11:150431749:CT:
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000214/3 (ALFA)
-=0.000623/165 (TOPMED)
-=0.004627/73 (GnomAD)
HGVS:: NC_000023.11:g.150431750_150431751del, NW_004070890.2:g.5956148_5956149del, NG_017093.2:g.73453_73454del, NC_000023.10:g.149600011_149600012del

Select item 14913841979.

rs1491384197 has merged into rs200212837 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: X:150455791 (GRCh38)
X:149624057 (GRCh37)
Canonical SPDI:: NC_000023.11:150455780:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:150455780:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:150455780:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:150455780:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:150455780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:150455780:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.2379/898 (1000Genomes)
-=0.3538/1022 (ALSPAC)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000023.11:g.150455791_150455794del, NC_000023.11:g.150455792_150455794del, NC_000023.11:g.150455793_150455794del, NC_000023.11:g.150455794del, NC_000023.11:g.150455794dup, NC_000023.11:g.150455793_150455794dup, NW_004070890.2:g.5980189_5980192del, NW_004070890.2:g.5980190_5980192del, NW_004070890.2:g.5980191_5980192del, NW_004070890.2:g.5980192del, NW_004070890.2:g.5980192dup, NW_004070890.2:g.5980191_5980192dup, NG_017093.2:g.97494_97497del, NG_017093.2:g.97495_97497del, NG_017093.2:g.97496_97497del, NG_017093.2:g.97497del, NG_017093.2:g.97497dup, NG_017093.2:g.97496_97497dup, NC_000023.10:g.149624057_149624060del, NC_000023.10:g.149624058_149624060del, NC_000023.10:g.149624059_149624060del, NC_000023.10:g.149624060del, NC_000023.10:g.149624060dup, NC_000023.10:g.149624059_149624060dup

Select item 149138049510.

rs1491380495 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:150482028 (GRCh38)
X:0 (GRCh37)
Canonical SPDI:: NC_000023.11:150482026:AGA:A
Gene:: MAMLD1 (Varview), LOC124905223 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.150482028_150482029del, NW_004070890.2:g.6006426_6006427del, NG_017093.2:g.123731_123732del

Select item 149137466611.

rs1491374666 has merged into rs34242695 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: X:150376888 (GRCh38)
X:149545154 (GRCh37)
Canonical SPDI:: NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3807/1437 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.150376888_150376890del, NC_000023.11:g.150376889_150376890del, NC_000023.11:g.150376890del, NC_000023.11:g.150376890dup, NC_000023.11:g.150376889_150376890dup, NW_004070890.2:g.5901286_5901288del, NW_004070890.2:g.5901287_5901288del, NW_004070890.2:g.5901288del, NW_004070890.2:g.5901288dup, NW_004070890.2:g.5901287_5901288dup, NG_017093.2:g.18591_18593del, NG_017093.2:g.18592_18593del, NG_017093.2:g.18593del, NG_017093.2:g.18593dup, NG_017093.2:g.18592_18593dup, NC_000023.10:g.149545154_149545156del, NC_000023.10:g.149545155_149545156del, NC_000023.10:g.149545156del, NC_000023.10:g.149545156dup, NC_000023.10:g.149545155_149545156dup

Select item 149134611012.

rs1491346110 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:150394129 (GRCh38)
X:149562397 (GRCh37)
Canonical SPDI:: NC_000023.11:150394128:CT:
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.150394129_150394130del, NW_004070890.2:g.5918527_5918528del, NG_017093.2:g.35832_35833del, NC_000023.10:g.149562397_149562398del

Select item 149131944713.

rs1491319447 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: X:150431750 (GRCh38)
X:149600012 (GRCh37)
Canonical SPDI:: NC_000023.11:150431750::A
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150431750_150431751insA, NW_004070890.2:g.5956148_5956149insA, NG_017093.2:g.73453_73454insA, NC_000023.10:g.149600011_149600012insA

Select item 149126596014.

rs1491265960 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:150403996 (GRCh38)
X:0 (GRCh37)
Canonical SPDI:: NC_000023.11:150403994:AGA:A
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00185/22 (ALFA)
-=0.00048/41 (GnomAD)
HGVS:: NC_000023.11:g.150403996_150403997del, NW_004070890.2:g.5928394_5928395del, NG_017093.2:g.45699_45700del

Select item 149122068115.

rs1491220681 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: X:150376876 (GRCh38)
X:149545142 (GRCh37)
Canonical SPDI:: NC_000023.11:150376875:GA:
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00285/40 (ALFA)
-=0.00348/244 (GnomAD)
-=0.00604/29 (1000Genomes)
HGVS:: NC_000023.11:g.150376876_150376877del, NW_004070890.2:g.5901274_5901275del, NG_017093.2:g.18579_18580del, NC_000023.10:g.149545142_149545143del

Select item 149118931816.

rs1491189318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:150403995 (GRCh38)
X:-1 (GRCh37)
Canonical SPDI:: NC_000023.11:150403995:G:GG
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150403996dup, NW_004070890.2:g.5928394dup, NG_017093.2:g.45699dup

Select item 149118289917.

rs1491182899 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA,AAAAA [Show Flanks]
Chromosome:: X:150481974 (GRCh38)
X:149650248 (GRCh37)
Canonical SPDI:: NC_000023.11:150481972:AAA:A,NC_000023.11:150481972:AAA:AA,NC_000023.11:150481972:AAA:AAAAA,NC_000023.11:150481972:AAA:AAAAAA
Gene:: MAMLD1 (Varview), LOC124905223 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.150481974_150481975del, NC_000023.11:g.150481975del, NC_000023.11:g.150481974_150481975dup, NC_000023.11:g.150481973_150481975dup, NW_004070890.2:g.6006372_6006373del, NW_004070890.2:g.6006373del, NW_004070890.2:g.6006372_6006373dup, NW_004070890.2:g.6006371_6006373dup, NG_017093.2:g.123677_123678del, NG_017093.2:g.123678del, NG_017093.2:g.123677_123678dup, NG_017093.2:g.123676_123678dup, NC_000023.10:g.149650248_149650249del, NC_000023.10:g.149650249del, NC_000023.10:g.149650248_149650249dup, NC_000023.10:g.149650247_149650249dup

Select item 149115949418.

rs1491159494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: X:150482027 (GRCh38)
X:-1 (GRCh37)
Canonical SPDI:: NC_000023.11:150482027:GAA:GAAGGAA
Gene:: MAMLD1 (Varview), LOC124905223 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAA=0./0 (ALFA)
GAAG=0.00013/13 (GnomAD)
HGVS:: NC_000023.11:g.150482030_150482031insGGAA, NW_004070890.2:g.6006428_6006429insGGAA, NG_017093.2:g.123733_123734insGGAA

Select item 149113067619.

rs1491130676 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCTTCT [Show Flanks]
Chromosome:: X:150455781 (GRCh38)
X:149624048 (GRCh37)
Canonical SPDI:: NC_000023.11:150455781:T:TCT,NC_000023.11:150455781:T:TCTTCTTCT
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCTTCT=0./0 (ALFA)
TC=0.00002/1 (GnomAD)
HGVS:: NC_000023.11:g.150455782_150455783insCT, NC_000023.11:g.150455782_150455783insCTTCTTCT, NW_004070890.2:g.5980180_5980181insCT, NW_004070890.2:g.5980180_5980181insCTTCTTCT, NG_017093.2:g.97485_97486insCT, NG_017093.2:g.97485_97486insCTTCTTCT, NC_000023.10:g.149624048_149624049insCT, NC_000023.10:g.149624048_149624049insCTTCTTCT

Select item 149106755720.

rs1491067557 has merged into rs368567940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: X:150373481 (GRCh38)
X:149541750 (GRCh37)
Canonical SPDI:: NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:150373466:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
CA=0.25/2 (KOREAN)
-=0.323099/85521 (TOPMED)
-=0.495099/1869 (1000Genomes)
HGVS:: NC_000023.11:g.150373467CA[7], NC_000023.11:g.150373467CA[8], NC_000023.11:g.150373467CA[9], NC_000023.11:g.150373467CA[10], NC_000023.11:g.150373467CA[11], NC_000023.11:g.150373467CA[13], NC_000023.11:g.150373467CA[14], NC_000023.11:g.150373467CA[15], NC_000023.11:g.150373467CA[16], NW_004070890.2:g.5897865CA[7], NW_004070890.2:g.5897865CA[8], NW_004070890.2:g.5897865CA[9], NW_004070890.2:g.5897865CA[10], NW_004070890.2:g.5897865CA[11], NW_004070890.2:g.5897865CA[13], NW_004070890.2:g.5897865CA[14], NW_004070890.2:g.5897865CA[15], NW_004070890.2:g.5897865CA[16], NG_017093.2:g.15170CA[7], NG_017093.2:g.15170CA[8], NG_017093.2:g.15170CA[9], NG_017093.2:g.15170CA[10], NG_017093.2:g.15170CA[11], NG_017093.2:g.15170CA[13], NG_017093.2:g.15170CA[14], NG_017093.2:g.15170CA[15], NG_017093.2:g.15170CA[16], NC_000023.10:g.149541736delinsACA, NC_000023.10:g.149541736_149541743del, NC_000023.10:g.149541736_149541741del, NC_000023.10:g.149541736_149541739del, NC_000023.10:g.149541722TC[7], NC_000023.10:g.149541736T>A, NC_000023.10:g.149541736delinsACACA, NC_000023.10:g.149541736delinsACACACA, NC_000023.10:g.149541736delinsACACACACA, NC_000023.10:g.149541736delinsACACACACACA

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