SNP Links for Nucleotide (Select 295148074) - SNP

Links from Nucleotide

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Select item 14915647191.

rs1491564719 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:51585537 (GRCh38)
15:51877734 (GRCh37)
Canonical SPDI:: NC_000015.10:51585534:TATA:TA
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATA=0.000427/6 (ALFA)
-=0.0004/106 (TOPMED)
HGVS:: NC_000015.10:g.51585535TA[1], NC_000015.9:g.51877732TA[1], NG_017155.1:g.42233TA[1]

Select item 14915298262.

rs1491529826 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:51599438 (GRCh38)
15:51891636 (GRCh37)
Canonical SPDI:: NC_000015.10:51599438:T:TT
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.51599439dup, NC_000015.9:g.51891636dup, NG_017155.1:g.28332dup

Select item 14915026433.

rs1491502643 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGT [Show Flanks]
Chromosome:: 15:51450584 (GRCh38)
15:51742782 (GRCh37)
Canonical SPDI:: NC_000015.10:51450584:AAGT:AAGTAAGT
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGTAAGT=0./0 (ALFA)
AAGT=0.000007/1 (GnomAD)
AAGT=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.51450585_51450588dup, NC_000015.9:g.51742782_51742785dup, NG_017155.1:g.177183_177186dup

Select item 14914614604.

rs1491461460 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:51454825 (GRCh38)
15:51747022 (GRCh37)
Canonical SPDI:: NC_000015.10:51454824:AT:
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51454825_51454826del, NC_000015.9:g.51747022_51747023del, NG_017155.1:g.172945_172946del

Select item 14914411345.

rs1491441134 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 15:51585535 (GRCh38)
15:51877733 (GRCh37)
Canonical SPDI:: NC_000015.10:51585535::TC
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: TC=0.000399/56 (GnomAD)
HGVS:: NC_000015.10:g.51585535_51585536insTC, NC_000015.9:g.51877732_51877733insTC, NG_017155.1:g.42235_42236insGA

Select item 14913920936.

rs1491392093 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 15:51487388 (GRCh38)
15:51779585 (GRCh37)
Canonical SPDI:: NC_000015.10:51487386:AAA:A
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.51487388_51487389del, NC_000015.9:g.51779585_51779586del, NG_017155.1:g.140383_140384del

Select item 14913628947.

rs1491362894 has merged into rs34051640 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:51616948 (GRCh38)
15:51909145 (GRCh37)
Canonical SPDI:: NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51616935:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000015.10:g.51616948_51616960del, NC_000015.10:g.51616949_51616960del, NC_000015.10:g.51616950_51616960del, NC_000015.10:g.51616951_51616960del, NC_000015.10:g.51616954_51616960del, NC_000015.10:g.51616955_51616960del, NC_000015.10:g.51616956_51616960del, NC_000015.10:g.51616957_51616960del, NC_000015.10:g.51616958_51616960del, NC_000015.10:g.51616959_51616960del, NC_000015.10:g.51616960del, NC_000015.10:g.51616960dup, NC_000015.10:g.51616959_51616960dup, NC_000015.10:g.51616958_51616960dup, NC_000015.10:g.51616957_51616960dup, NC_000015.10:g.51616956_51616960dup, NC_000015.10:g.51616955_51616960dup, NC_000015.10:g.51616938_51616960dup, NC_000015.9:g.51909145_51909157del, NC_000015.9:g.51909146_51909157del, NC_000015.9:g.51909147_51909157del, NC_000015.9:g.51909148_51909157del, NC_000015.9:g.51909151_51909157del, NC_000015.9:g.51909152_51909157del, NC_000015.9:g.51909153_51909157del, NC_000015.9:g.51909154_51909157del, NC_000015.9:g.51909155_51909157del, NC_000015.9:g.51909156_51909157del, NC_000015.9:g.51909157del, NC_000015.9:g.51909157dup, NC_000015.9:g.51909156_51909157dup, NC_000015.9:g.51909155_51909157dup, NC_000015.9:g.51909154_51909157dup, NC_000015.9:g.51909153_51909157dup, NC_000015.9:g.51909152_51909157dup, NC_000015.9:g.51909135_51909157dup, NG_017155.1:g.10823_10835del, NG_017155.1:g.10824_10835del, NG_017155.1:g.10825_10835del, NG_017155.1:g.10826_10835del, NG_017155.1:g.10829_10835del, NG_017155.1:g.10830_10835del, NG_017155.1:g.10831_10835del, NG_017155.1:g.10832_10835del, NG_017155.1:g.10833_10835del, NG_017155.1:g.10834_10835del, NG_017155.1:g.10835del, NG_017155.1:g.10835dup, NG_017155.1:g.10834_10835dup, NG_017155.1:g.10833_10835dup, NG_017155.1:g.10832_10835dup, NG_017155.1:g.10831_10835dup, NG_017155.1:g.10830_10835dup, NG_017155.1:g.10813_10835dup

Select item 14913387468.

rs1491338746 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:51616935 (GRCh38)
15:51909132 (GRCh37)
Canonical SPDI:: NC_000015.10:51616934:TA:
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51616935_51616936del, NC_000015.9:g.51909132_51909133del, NG_017155.1:g.10835_10836del

Select item 14913360919.

rs1491336091 has merged into rs61062444 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:51519647 (GRCh38)
15:51811844 (GRCh37)
Canonical SPDI:: NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51519636:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.51519647_51519659del, NC_000015.10:g.51519648_51519659del, NC_000015.10:g.51519649_51519659del, NC_000015.10:g.51519650_51519659del, NC_000015.10:g.51519652_51519659del, NC_000015.10:g.51519653_51519659del, NC_000015.10:g.51519655_51519659del, NC_000015.10:g.51519658_51519659del, NC_000015.10:g.51519659del, NC_000015.10:g.51519659dup, NC_000015.10:g.51519658_51519659dup, NC_000015.10:g.51519657_51519659dup, NC_000015.10:g.51519656_51519659dup, NC_000015.10:g.51519655_51519659dup, NC_000015.10:g.51519654_51519659dup, NC_000015.10:g.51519653_51519659dup, NC_000015.10:g.51519652_51519659dup, NC_000015.10:g.51519651_51519659dup, NC_000015.10:g.51519650_51519659dup, NC_000015.10:g.51519649_51519659dup, NC_000015.10:g.51519648_51519659dup, NC_000015.10:g.51519639_51519659dup, NC_000015.9:g.51811844_51811856del, NC_000015.9:g.51811845_51811856del, NC_000015.9:g.51811846_51811856del, NC_000015.9:g.51811847_51811856del, NC_000015.9:g.51811849_51811856del, NC_000015.9:g.51811850_51811856del, NC_000015.9:g.51811852_51811856del, NC_000015.9:g.51811855_51811856del, NC_000015.9:g.51811856del, NC_000015.9:g.51811856dup, NC_000015.9:g.51811855_51811856dup, NC_000015.9:g.51811854_51811856dup, NC_000015.9:g.51811853_51811856dup, NC_000015.9:g.51811852_51811856dup, NC_000015.9:g.51811851_51811856dup, NC_000015.9:g.51811850_51811856dup, NC_000015.9:g.51811849_51811856dup, NC_000015.9:g.51811848_51811856dup, NC_000015.9:g.51811847_51811856dup, NC_000015.9:g.51811846_51811856dup, NC_000015.9:g.51811845_51811856dup, NC_000015.9:g.51811836_51811856dup, NG_017155.1:g.108122_108134del, NG_017155.1:g.108123_108134del, NG_017155.1:g.108124_108134del, NG_017155.1:g.108125_108134del, NG_017155.1:g.108127_108134del, NG_017155.1:g.108128_108134del, NG_017155.1:g.108130_108134del, NG_017155.1:g.108133_108134del, NG_017155.1:g.108134del, NG_017155.1:g.108134dup, NG_017155.1:g.108133_108134dup, NG_017155.1:g.108132_108134dup, NG_017155.1:g.108131_108134dup, NG_017155.1:g.108130_108134dup, NG_017155.1:g.108129_108134dup, NG_017155.1:g.108128_108134dup, NG_017155.1:g.108127_108134dup, NG_017155.1:g.108126_108134dup, NG_017155.1:g.108125_108134dup, NG_017155.1:g.108124_108134dup, NG_017155.1:g.108123_108134dup, NG_017155.1:g.108114_108134dup

Select item 149129720810.

rs1491297208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 15:51450585 (GRCh38)
15:51742782 (GRCh37)
Canonical SPDI:: NC_000015.10:51450583:AAA:A
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51450585_51450586del, NC_000015.9:g.51742782_51742783del, NG_017155.1:g.177186_177187del

Select item 149126260311.

rs1491262603 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:51599440 (GRCh38)
15:51891637 (GRCh37)
Canonical SPDI:: NC_000015.10:51599437:ATAT:AT
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.51599438AT[1], NC_000015.9:g.51891635AT[1], NG_017155.1:g.28330AT[1]

Select item 149124705812.

rs1491247058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:51466364 (GRCh38)
15:51758561 (GRCh37)
Canonical SPDI:: NC_000015.10:51466360:ATATA:ATA
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000019/1 (GnomAD_exomes)
-=0.000022/3 (GnomAD)
-=0.000055/1 (ExAC)
HGVS:: NC_000015.10:g.51466362TA[1], NC_000015.9:g.51758559TA[1], NG_017155.1:g.161407AT[1]

Select item 149120645813.

rs1491206458 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:51610767 (GRCh38)
15:51902964 (GRCh37)
Canonical SPDI:: NC_000015.10:51610766:CA:
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0046/17 (TWINSUK)
-=0.0049/19 (ALSPAC)
HGVS:: NC_000015.10:g.51610767_51610768del, NC_000015.9:g.51902964_51902965del, NG_017155.1:g.17003_17004del

Select item 149116245214.

rs1491162452 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:51454825 (GRCh38)
15:51747023 (GRCh37)
Canonical SPDI:: NC_000015.10:51454825::G
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000136/19 (GnomAD)
HGVS:: NC_000015.10:g.51454825_51454826insG, NC_000015.9:g.51747022_51747023insG, NG_017155.1:g.172945_172946insC

Select item 149115709215.

rs1491157092 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 149106266916.

rs1491062669 has merged into rs531570148 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:51506459 (GRCh38)
15:51798656 (GRCh37)
Canonical SPDI:: NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51506450:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.02259/113 (1000Genomes)
HGVS:: NC_000015.10:g.51506459_51506471del, NC_000015.10:g.51506460_51506471del, NC_000015.10:g.51506461_51506471del, NC_000015.10:g.51506466_51506471del, NC_000015.10:g.51506468_51506471del, NC_000015.10:g.51506469_51506471del, NC_000015.10:g.51506470_51506471del, NC_000015.10:g.51506471del, NC_000015.10:g.51506471dup, NC_000015.10:g.51506470_51506471dup, NC_000015.10:g.51506469_51506471dup, NC_000015.10:g.51506468_51506471dup, NC_000015.10:g.51506467_51506471dup, NC_000015.10:g.51506466_51506471dup, NC_000015.10:g.51506465_51506471dup, NC_000015.10:g.51506464_51506471dup, NC_000015.10:g.51506462_51506471dup, NC_000015.9:g.51798656_51798668del, NC_000015.9:g.51798657_51798668del, NC_000015.9:g.51798658_51798668del, NC_000015.9:g.51798663_51798668del, NC_000015.9:g.51798665_51798668del, NC_000015.9:g.51798666_51798668del, NC_000015.9:g.51798667_51798668del, NC_000015.9:g.51798668del, NC_000015.9:g.51798668dup, NC_000015.9:g.51798667_51798668dup, NC_000015.9:g.51798666_51798668dup, NC_000015.9:g.51798665_51798668dup, NC_000015.9:g.51798664_51798668dup, NC_000015.9:g.51798663_51798668dup, NC_000015.9:g.51798662_51798668dup, NC_000015.9:g.51798661_51798668dup, NC_000015.9:g.51798659_51798668dup, NG_017155.1:g.121308_121320del, NG_017155.1:g.121309_121320del, NG_017155.1:g.121310_121320del, NG_017155.1:g.121315_121320del, NG_017155.1:g.121317_121320del, NG_017155.1:g.121318_121320del, NG_017155.1:g.121319_121320del, NG_017155.1:g.121320del, NG_017155.1:g.121320dup, NG_017155.1:g.121319_121320dup, NG_017155.1:g.121318_121320dup, NG_017155.1:g.121317_121320dup, NG_017155.1:g.121316_121320dup, NG_017155.1:g.121315_121320dup, NG_017155.1:g.121314_121320dup, NG_017155.1:g.121313_121320dup, NG_017155.1:g.121311_121320dup

Select item 149100218617.

rs1491002186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:51516580 (GRCh38)
15:51808777 (GRCh37)
Canonical SPDI:: NC_000015.10:51516579:A:C
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.51516580A>C, NC_000015.9:g.51808777A>C, NG_017155.1:g.111191T>G

Select item 149099332618.

rs1490993326 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 15:51587179 (GRCh38)
15:51879376 (GRCh37)
Canonical SPDI:: NC_000015.10:51587173:TTTTTTT:TTTTT,NC_000015.10:51587173:TTTTTTT:TTTTTT,NC_000015.10:51587173:TTTTTTT:TTTTTTTT
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.51587179_51587180del, NC_000015.10:g.51587180del, NC_000015.10:g.51587180dup, NC_000015.9:g.51879376_51879377del, NC_000015.9:g.51879377del, NC_000015.9:g.51879377dup, NG_017155.1:g.40596_40597del, NG_017155.1:g.40597del, NG_017155.1:g.40597dup

Select item 149098292019.

rs1490982920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:51459284 (GRCh38)
15:51751481 (GRCh37)
Canonical SPDI:: NC_000015.10:51459283:G:A
Gene:: DMXL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.51459284G>A, NC_000015.9:g.51751481G>A, NG_017155.1:g.168487C>T

Select item 149097896720.

rs1490978967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:51572633 (GRCh38)
15:51864830 (GRCh37)
Canonical SPDI:: NC_000015.10:51572632:A:G
Gene:: DMXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.51572633A>G, NC_000015.9:g.51864830A>G, NG_017155.1:g.55138T>C

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