SNP Links for Gene (Select 54960) - SNP

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Select item 14915830291.

rs1491583029 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: X:14011517 (GRCh38)
X:14029637 (GRCh37)
Canonical SPDI:: NC_000023.11:14011517::C,NC_000023.11:14011517::G
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00006/1 (TOMMO)
HGVS:: NC_000023.11:g.14011517_14011518insC, NC_000023.11:g.14011517_14011518insG, NC_000023.10:g.14029636_14029637insC, NC_000023.10:g.14029636_14029637insG, NG_021285.1:g.23399_23400insG, NG_021285.1:g.23399_23400insC

Select item 14915516692.

rs1491551669 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: X:14021815 (GRCh38)
X:14039935 (GRCh37)
Canonical SPDI:: NC_000023.11:14021815:A:ACA
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000023.11:g.14021816_14021817insCA, NC_000023.10:g.14039935_14039936insCA, NG_021285.1:g.13101_13102insGT

Select item 14915202773.

rs1491520277 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTGAAAATAGTCTTTG,TTGAAAATAGTCTTTGAA [Show Flanks]
Chromosome:: X:14030356 (GRCh38)
X:14048476 (GRCh37)
Canonical SPDI:: NC_000023.11:14030356::TTGAAAATAGTCTTTG,NC_000023.11:14030356::TTGAAAATAGTCTTTGAA
Gene:: GEMIN8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGAAAATAGTCTTTG=0./0 (ALFA)
TTGAAAATAGTCTTTG=0.000008/2 (TOPMED)
TTGAAAATAGTCTTTGAA=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.14030356_14030357insTTGAAAATAGTCTTTG, NC_000023.11:g.14030356_14030357insTTGAAAATAGTCTTTGAA, NC_000023.10:g.14048475_14048476insTTGAAAATAGTCTTTG, NC_000023.10:g.14048475_14048476insTTGAAAATAGTCTTTGAA, NG_021285.1:g.4560_4561insCAAAGACTATTTTCAA, NG_021285.1:g.4560_4561insTTCAAAGACTATTTTCAA

Select item 14913181954.

rs1491318195 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:14030356 (GRCh38)
X:14048475 (GRCh37)
Canonical SPDI:: NC_000023.11:14030355:TA:
Gene:: GEMIN8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.14030356_14030357del, NC_000023.10:g.14048475_14048476del, NG_021285.1:g.4560_4561del

Select item 14911850005.

rs1491185000 has merged into rs147147045 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: X:14021825 (GRCh38)
X:14039944 (GRCh37)
Canonical SPDI:: NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:14021814:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
HGVS:: NC_000023.11:g.14021815TA[5], NC_000023.11:g.14021815TA[6], NC_000023.11:g.14021815TA[7], NC_000023.11:g.14021815TA[8], NC_000023.11:g.14021815TA[9], NC_000023.11:g.14021815TA[10], NC_000023.11:g.14021815TA[11], NC_000023.11:g.14021815TA[12], NC_000023.11:g.14021815TA[13], NC_000023.11:g.14021815TA[14], NC_000023.11:g.14021815TA[16], NC_000023.11:g.14021815TA[17], NC_000023.11:g.14021815TA[18], NC_000023.11:g.14021815TA[19], NC_000023.11:g.14021815TA[20], NC_000023.11:g.14021815TA[21], NC_000023.11:g.14021815TA[22], NC_000023.11:g.14021815TA[23], NC_000023.11:g.14021815TA[24], NC_000023.11:g.14021815TA[25], NC_000023.11:g.14021815TA[26], NC_000023.11:g.14021815TA[27], NC_000023.11:g.14021815TA[28], NC_000023.10:g.14039934TA[5], NC_000023.10:g.14039934TA[6], NC_000023.10:g.14039934TA[7], NC_000023.10:g.14039934TA[8], NC_000023.10:g.14039934TA[9], NC_000023.10:g.14039934TA[10], NC_000023.10:g.14039934TA[11], NC_000023.10:g.14039934TA[12], NC_000023.10:g.14039934TA[13], NC_000023.10:g.14039934TA[14], NC_000023.10:g.14039934TA[16], NC_000023.10:g.14039934TA[17], NC_000023.10:g.14039934TA[18], NC_000023.10:g.14039934TA[19], NC_000023.10:g.14039934TA[20], NC_000023.10:g.14039934TA[21], NC_000023.10:g.14039934TA[22], NC_000023.10:g.14039934TA[23], NC_000023.10:g.14039934TA[24], NC_000023.10:g.14039934TA[25], NC_000023.10:g.14039934TA[26], NC_000023.10:g.14039934TA[27], NC_000023.10:g.14039934TA[28], NG_021285.1:g.13073TA[5], NG_021285.1:g.13073TA[6], NG_021285.1:g.13073TA[7], NG_021285.1:g.13073TA[8], NG_021285.1:g.13073TA[9], NG_021285.1:g.13073TA[10], NG_021285.1:g.13073TA[11], NG_021285.1:g.13073TA[12], NG_021285.1:g.13073TA[13], NG_021285.1:g.13073TA[14], NG_021285.1:g.13073TA[16], NG_021285.1:g.13073TA[17], NG_021285.1:g.13073TA[18], NG_021285.1:g.13073TA[19], NG_021285.1:g.13073TA[20], NG_021285.1:g.13073TA[21], NG_021285.1:g.13073TA[22], NG_021285.1:g.13073TA[23], NG_021285.1:g.13073TA[24], NG_021285.1:g.13073TA[25], NG_021285.1:g.13073TA[26], NG_021285.1:g.13073TA[27], NG_021285.1:g.13073TA[28]

Select item 14911439166.

rs1491143916 has merged into rs575651297 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:14011527 (GRCh38)
X:14029646 (GRCh37)
Canonical SPDI:: NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.39391/1487 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000023.11:g.14011527_14011543del, NC_000023.11:g.14011528_14011543del, NC_000023.11:g.14011529_14011543del, NC_000023.11:g.14011530_14011543del, NC_000023.11:g.14011531_14011543del, NC_000023.11:g.14011532_14011543del, NC_000023.11:g.14011533_14011543del, NC_000023.11:g.14011534_14011543del, NC_000023.11:g.14011535_14011543del, NC_000023.11:g.14011536_14011543del, NC_000023.11:g.14011537_14011543del, NC_000023.11:g.14011538_14011543del, NC_000023.11:g.14011539_14011543del, NC_000023.11:g.14011540_14011543del, NC_000023.11:g.14011541_14011543del, NC_000023.11:g.14011542_14011543del, NC_000023.11:g.14011543del, NC_000023.11:g.14011543dup, NC_000023.11:g.14011542_14011543dup, NC_000023.11:g.14011541_14011543dup, NC_000023.11:g.14011540_14011543dup, NC_000023.11:g.14011539_14011543dup, NC_000023.11:g.14011538_14011543dup, NC_000023.11:g.14011537_14011543dup, NC_000023.11:g.14011536_14011543dup, NC_000023.11:g.14011535_14011543dup, NC_000023.11:g.14011534_14011543dup, NC_000023.11:g.14011533_14011543dup, NC_000023.11:g.14011532_14011543dup, NC_000023.11:g.14011531_14011543dup, NC_000023.11:g.14011530_14011543dup, NC_000023.11:g.14011529_14011543dup, NC_000023.11:g.14011528_14011543dup, NC_000023.11:g.14011527_14011543dup, NC_000023.11:g.14011526_14011543dup, NC_000023.11:g.14011525_14011543dup, NC_000023.11:g.14011524_14011543dup, NC_000023.11:g.14011543_14011544insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.14029646_14029662del, NC_000023.10:g.14029647_14029662del, NC_000023.10:g.14029648_14029662del, NC_000023.10:g.14029649_14029662del, NC_000023.10:g.14029650_14029662del, NC_000023.10:g.14029651_14029662del, NC_000023.10:g.14029652_14029662del, NC_000023.10:g.14029653_14029662del, NC_000023.10:g.14029654_14029662del, NC_000023.10:g.14029655_14029662del, NC_000023.10:g.14029656_14029662del, NC_000023.10:g.14029657_14029662del, NC_000023.10:g.14029658_14029662del, NC_000023.10:g.14029659_14029662del, NC_000023.10:g.14029660_14029662del, NC_000023.10:g.14029661_14029662del, NC_000023.10:g.14029662del, NC_000023.10:g.14029662dup, NC_000023.10:g.14029661_14029662dup, NC_000023.10:g.14029660_14029662dup, NC_000023.10:g.14029659_14029662dup, NC_000023.10:g.14029658_14029662dup, NC_000023.10:g.14029657_14029662dup, NC_000023.10:g.14029656_14029662dup, NC_000023.10:g.14029655_14029662dup, NC_000023.10:g.14029654_14029662dup, NC_000023.10:g.14029653_14029662dup, NC_000023.10:g.14029652_14029662dup, NC_000023.10:g.14029651_14029662dup, NC_000023.10:g.14029650_14029662dup, NC_000023.10:g.14029649_14029662dup, NC_000023.10:g.14029648_14029662dup, NC_000023.10:g.14029647_14029662dup, NC_000023.10:g.14029646_14029662dup, NC_000023.10:g.14029645_14029662dup, NC_000023.10:g.14029644_14029662dup, NC_000023.10:g.14029643_14029662dup, NC_000023.10:g.14029662_14029663insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021285.1:g.23384_23400del, NG_021285.1:g.23385_23400del, NG_021285.1:g.23386_23400del, NG_021285.1:g.23387_23400del, NG_021285.1:g.23388_23400del, NG_021285.1:g.23389_23400del, NG_021285.1:g.23390_23400del, NG_021285.1:g.23391_23400del, NG_021285.1:g.23392_23400del, NG_021285.1:g.23393_23400del, NG_021285.1:g.23394_23400del, NG_021285.1:g.23395_23400del, NG_021285.1:g.23396_23400del, NG_021285.1:g.23397_23400del, NG_021285.1:g.23398_23400del, NG_021285.1:g.23399_23400del, NG_021285.1:g.23400del, NG_021285.1:g.23400dup, NG_021285.1:g.23399_23400dup, NG_021285.1:g.23398_23400dup, NG_021285.1:g.23397_23400dup, NG_021285.1:g.23396_23400dup, NG_021285.1:g.23395_23400dup, NG_021285.1:g.23394_23400dup, NG_021285.1:g.23393_23400dup, NG_021285.1:g.23392_23400dup, NG_021285.1:g.23391_23400dup, NG_021285.1:g.23390_23400dup, NG_021285.1:g.23389_23400dup, NG_021285.1:g.23388_23400dup, NG_021285.1:g.23387_23400dup, NG_021285.1:g.23386_23400dup, NG_021285.1:g.23385_23400dup, NG_021285.1:g.23384_23400dup, NG_021285.1:g.23383_23400dup, NG_021285.1:g.23382_23400dup, NG_021285.1:g.23381_23400dup, NG_021285.1:g.23400_23401insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910388647.

rs1491038864 has merged into rs745394786 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAAAGA [Show Flanks]
Chromosome:: X:14002342 (GRCh38)
X:14020461 (GRCh37)
Canonical SPDI:: NC_000023.11:14002340:AGA:A,NC_000023.11:14002340:AGA:AGAAAGA
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AGAA=0.1163/336 (ALSPAC)
AAGA=0.1241/460 (TWINSUK)
HGVS:: NC_000023.11:g.14002342_14002343del, NC_000023.11:g.14002343_14002344insAAGA, NC_000023.10:g.14020461_14020462del, NC_000023.10:g.14020462_14020463insAAGA, XR_950467.4:n.5735_5736del, XR_950467.4:n.5736_5737insTTCT, XR_001755702.2:n.2208_2209del, XR_001755702.2:n.2209_2210insTTCT, XR_001755703.2:n.2180_2181del, XR_001755703.2:n.2181_2182insTTCT

Select item 14910298748.

rs1491029874 has merged into rs61127994 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: X:14016881 (GRCh38)
X:14035000 (GRCh37)
Canonical SPDI:: NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000023.11:14016866:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.14016867AT[7], NC_000023.11:g.14016867AT[8], NC_000023.11:g.14016867AT[9], NC_000023.11:g.14016867AT[10], NC_000023.11:g.14016867AT[11], NC_000023.11:g.14016867AT[12], NC_000023.11:g.14016867AT[14], NC_000023.11:g.14016867AT[15], NC_000023.11:g.14016867AT[16], NC_000023.11:g.14016867AT[17], NC_000023.11:g.14016867AT[18], NC_000023.11:g.14016867AT[19], NC_000023.11:g.14016867AT[20], NC_000023.10:g.14034986AT[7], NC_000023.10:g.14034986AT[8], NC_000023.10:g.14034986AT[9], NC_000023.10:g.14034986AT[10], NC_000023.10:g.14034986AT[11], NC_000023.10:g.14034986AT[12], NC_000023.10:g.14034986AT[14], NC_000023.10:g.14034986AT[15], NC_000023.10:g.14034986AT[16], NC_000023.10:g.14034986AT[17], NC_000023.10:g.14034986AT[18], NC_000023.10:g.14034986AT[19], NC_000023.10:g.14034986AT[20], NG_021285.1:g.18025AT[7], NG_021285.1:g.18025AT[8], NG_021285.1:g.18025AT[9], NG_021285.1:g.18025AT[10], NG_021285.1:g.18025AT[11], NG_021285.1:g.18025AT[12], NG_021285.1:g.18025AT[14], NG_021285.1:g.18025AT[15], NG_021285.1:g.18025AT[16], NG_021285.1:g.18025AT[17], NG_021285.1:g.18025AT[18], NG_021285.1:g.18025AT[19], NG_021285.1:g.18025AT[20]

Select item 14909746519.

rs1490974651 has merged into rs58599457 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATAGATAGATAGATAGATAGATA>-,GATA,GATAGATA,GATAGATAGATA,GATAGATAGATAGATA,GATAGATAGATAGATAGATA,GATAGATAGATAGATAGATAGATAGATA,GATAGATAGATAGATAGATAGATAGATAGATA,GATAGATAGATAGATAGATAGATAGATAGATAGATA,GATAGATAGATAGATAGATAGATAGATAGATAGATAGATA [Show Flanks]
Chromosome:: X:14002350 (GRCh38)
X:14020469 (GRCh37)
Canonical SPDI:: NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA,NC_000023.11:14002329:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA:GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA
Gene:: GEMIN8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATAGATAGATAGATAGATAGATAGATA=0./0 (ALFA)
HGVS:: NC_000023.11:g.14002330GATA[5], NC_000023.11:g.14002330GATA[6], NC_000023.11:g.14002330GATA[7], NC_000023.11:g.14002330GATA[8], NC_000023.11:g.14002330GATA[9], NC_000023.11:g.14002330GATA[10], NC_000023.11:g.14002330GATA[12], NC_000023.11:g.14002330GATA[13], NC_000023.11:g.14002330GATA[14], NC_000023.11:g.14002330GATA[15], NC_000023.10:g.14020449GATA[5], NC_000023.10:g.14020449GATA[6], NC_000023.10:g.14020449GATA[7], NC_000023.10:g.14020449GATA[8], NC_000023.10:g.14020449GATA[9], NC_000023.10:g.14020449GATA[10], NC_000023.10:g.14020449GATA[12], NC_000023.10:g.14020449GATA[13], NC_000023.10:g.14020449GATA[14], NC_000023.10:g.14020449GATA[15], XR_950467.4:n.5704TATC[5], XR_950467.4:n.5704TATC[6], XR_950467.4:n.5704TATC[7], XR_950467.4:n.5704TATC[8], XR_950467.4:n.5704TATC[9], XR_950467.4:n.5704TATC[10], XR_950467.4:n.5704TATC[12], XR_950467.4:n.5704TATC[13], XR_950467.4:n.5704TATC[14], XR_950467.4:n.5704TATC[15], XR_001755702.2:n.2177TATC[5], XR_001755702.2:n.2177TATC[6], XR_001755702.2:n.2177TATC[7], XR_001755702.2:n.2177TATC[8], XR_001755702.2:n.2177TATC[9], XR_001755702.2:n.2177TATC[10], XR_001755702.2:n.2177TATC[12], XR_001755702.2:n.2177TATC[13], XR_001755702.2:n.2177TATC[14], XR_001755702.2:n.2177TATC[15], XR_001755703.2:n.2149TATC[5], XR_001755703.2:n.2149TATC[6], XR_001755703.2:n.2149TATC[7], XR_001755703.2:n.2149TATC[8], XR_001755703.2:n.2149TATC[9], XR_001755703.2:n.2149TATC[10], XR_001755703.2:n.2149TATC[12], XR_001755703.2:n.2149TATC[13], XR_001755703.2:n.2149TATC[14], XR_001755703.2:n.2149TATC[15]

Select item 149063257510.

rs1490632575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:14014023 (GRCh38)
X:14032142 (GRCh37)
Canonical SPDI:: NC_000023.11:14014022:G:A
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.14014023G>A, NC_000023.10:g.14032142G>A, NG_021285.1:g.20894C>T

Select item 149059968411.

rs1490599684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:14013382 (GRCh38)
X:14031501 (GRCh37)
Canonical SPDI:: NC_000023.11:14013381:T:G
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.14013382T>G, NC_000023.10:g.14031501T>G, NG_021285.1:g.21535A>C

Select item 149046103912.

rs1490461039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:14024750 (GRCh38)
X:14042869 (GRCh37)
Canonical SPDI:: NC_000023.11:14024749:A:G
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.14024750A>G, NC_000023.10:g.14042869A>G, NG_021285.1:g.10167T>C

Select item 149028252513.

rs1490282525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:14012163 (GRCh38)
X:14030282 (GRCh37)
Canonical SPDI:: NC_000023.11:14012162:G:A,NC_000023.11:14012162:G:C
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.14012163G>A, NC_000023.11:g.14012163G>C, NC_000023.10:g.14030282G>A, NC_000023.10:g.14030282G>C, NG_021285.1:g.22754C>T, NG_021285.1:g.22754C>G

Select item 148974178514.

rs1489741785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:14030020 (GRCh38)
X:14048139 (GRCh37)
Canonical SPDI:: NC_000023.11:14030019:G:C
Gene:: GEMIN8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000019/2 (GnomAD)
C=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.14030020G>C, NC_000023.10:g.14048139G>C, NG_021285.1:g.4897C>G

Select item 148972798215.

rs1489727982 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:14020987 (GRCh38)
X:14039106 (GRCh37)
Canonical SPDI:: NC_000023.11:14020986:AA:A
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.14020988del, NC_000023.10:g.14039107del, NG_021285.1:g.13930del

Select item 148967926516.

rs1489679265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:14022271 (GRCh38)
X:14040390 (GRCh37)
Canonical SPDI:: NC_000023.11:14022270:A:C
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.14022271A>C, NC_000023.10:g.14040390A>C, NG_021285.1:g.12646T>G

Select item 148957342517.

rs1489573425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:14016363 (GRCh38)
X:14034482 (GRCh37)
Canonical SPDI:: NC_000023.11:14016362:A:G
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.14016363A>G, NC_000023.10:g.14034482A>G, NG_021285.1:g.18554T>C

Select item 148948829818.

rs1489488298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:14021925 (GRCh38)
X:14040044 (GRCh37)
Canonical SPDI:: NC_000023.11:14021924:A:G
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000023.11:g.14021925A>G, NC_000023.10:g.14040044A>G, NG_021285.1:g.12992T>C

Select item 148938089019.

rs1489380890 has merged into rs575651297 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:14011527 (GRCh38)
X:14029646 (GRCh37)
Canonical SPDI:: NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:14011516:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GEMIN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.39391/1487 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000023.11:g.14011527_14011543del, NC_000023.11:g.14011528_14011543del, NC_000023.11:g.14011529_14011543del, NC_000023.11:g.14011530_14011543del, NC_000023.11:g.14011531_14011543del, NC_000023.11:g.14011532_14011543del, NC_000023.11:g.14011533_14011543del, NC_000023.11:g.14011534_14011543del, NC_000023.11:g.14011535_14011543del, NC_000023.11:g.14011536_14011543del, NC_000023.11:g.14011537_14011543del, NC_000023.11:g.14011538_14011543del, NC_000023.11:g.14011539_14011543del, NC_000023.11:g.14011540_14011543del, NC_000023.11:g.14011541_14011543del, NC_000023.11:g.14011542_14011543del, NC_000023.11:g.14011543del, NC_000023.11:g.14011543dup, NC_000023.11:g.14011542_14011543dup, NC_000023.11:g.14011541_14011543dup, NC_000023.11:g.14011540_14011543dup, NC_000023.11:g.14011539_14011543dup, NC_000023.11:g.14011538_14011543dup, NC_000023.11:g.14011537_14011543dup, NC_000023.11:g.14011536_14011543dup, NC_000023.11:g.14011535_14011543dup, NC_000023.11:g.14011534_14011543dup, NC_000023.11:g.14011533_14011543dup, NC_000023.11:g.14011532_14011543dup, NC_000023.11:g.14011531_14011543dup, NC_000023.11:g.14011530_14011543dup, NC_000023.11:g.14011529_14011543dup, NC_000023.11:g.14011528_14011543dup, NC_000023.11:g.14011527_14011543dup, NC_000023.11:g.14011526_14011543dup, NC_000023.11:g.14011525_14011543dup, NC_000023.11:g.14011524_14011543dup, NC_000023.11:g.14011543_14011544insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.14029646_14029662del, NC_000023.10:g.14029647_14029662del, NC_000023.10:g.14029648_14029662del, NC_000023.10:g.14029649_14029662del, NC_000023.10:g.14029650_14029662del, NC_000023.10:g.14029651_14029662del, NC_000023.10:g.14029652_14029662del, NC_000023.10:g.14029653_14029662del, NC_000023.10:g.14029654_14029662del, NC_000023.10:g.14029655_14029662del, NC_000023.10:g.14029656_14029662del, NC_000023.10:g.14029657_14029662del, NC_000023.10:g.14029658_14029662del, NC_000023.10:g.14029659_14029662del, NC_000023.10:g.14029660_14029662del, NC_000023.10:g.14029661_14029662del, NC_000023.10:g.14029662del, NC_000023.10:g.14029662dup, NC_000023.10:g.14029661_14029662dup, NC_000023.10:g.14029660_14029662dup, NC_000023.10:g.14029659_14029662dup, NC_000023.10:g.14029658_14029662dup, NC_000023.10:g.14029657_14029662dup, NC_000023.10:g.14029656_14029662dup, NC_000023.10:g.14029655_14029662dup, NC_000023.10:g.14029654_14029662dup, NC_000023.10:g.14029653_14029662dup, NC_000023.10:g.14029652_14029662dup, NC_000023.10:g.14029651_14029662dup, NC_000023.10:g.14029650_14029662dup, NC_000023.10:g.14029649_14029662dup, NC_000023.10:g.14029648_14029662dup, NC_000023.10:g.14029647_14029662dup, NC_000023.10:g.14029646_14029662dup, NC_000023.10:g.14029645_14029662dup, NC_000023.10:g.14029644_14029662dup, NC_000023.10:g.14029643_14029662dup, NC_000023.10:g.14029662_14029663insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021285.1:g.23384_23400del, NG_021285.1:g.23385_23400del, NG_021285.1:g.23386_23400del, NG_021285.1:g.23387_23400del, NG_021285.1:g.23388_23400del, NG_021285.1:g.23389_23400del, NG_021285.1:g.23390_23400del, NG_021285.1:g.23391_23400del, NG_021285.1:g.23392_23400del, NG_021285.1:g.23393_23400del, NG_021285.1:g.23394_23400del, NG_021285.1:g.23395_23400del, NG_021285.1:g.23396_23400del, NG_021285.1:g.23397_23400del, NG_021285.1:g.23398_23400del, NG_021285.1:g.23399_23400del, NG_021285.1:g.23400del, NG_021285.1:g.23400dup, NG_021285.1:g.23399_23400dup, NG_021285.1:g.23398_23400dup, NG_021285.1:g.23397_23400dup, NG_021285.1:g.23396_23400dup, NG_021285.1:g.23395_23400dup, NG_021285.1:g.23394_23400dup, NG_021285.1:g.23393_23400dup, NG_021285.1:g.23392_23400dup, NG_021285.1:g.23391_23400dup, NG_021285.1:g.23390_23400dup, NG_021285.1:g.23389_23400dup, NG_021285.1:g.23388_23400dup, NG_021285.1:g.23387_23400dup, NG_021285.1:g.23386_23400dup, NG_021285.1:g.23385_23400dup, NG_021285.1:g.23384_23400dup, NG_021285.1:g.23383_23400dup, NG_021285.1:g.23382_23400dup, NG_021285.1:g.23381_23400dup, NG_021285.1:g.23400_23401insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148930174920.

rs1489301749 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGAAGG>- [Show Flanks]
Chromosome:: X:14031588 (GRCh38)
X:14049707 (GRCh37)
Canonical SPDI:: NC_000023.11:14031583:AAGGCAGAAGG:AAGG
Gene:: GEMIN8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGG=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.14031588_14031594del, NC_000023.10:g.14049707_14049713del, NG_021285.1:g.3327_3333del

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