SNP Links for Gene (Select 3295) - SNP

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Select item 14915889221.

rs1491588922 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:119491461 (GRCh38)
5:118827156 (GRCh37)
Canonical SPDI:: NC_000005.10:119491460:CT:
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000005.10:g.119491461_119491462del, NC_000005.9:g.118827156_118827157del, NG_008182.1:g.44009_44010del

Select item 14915815922.

rs1491581592 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:119489170 (GRCh38)
5:118824865 (GRCh37)
Canonical SPDI:: NC_000005.10:119489167:ATAT:AT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000071/1 (ALFA)
-=0./0 (TWINSUK)
-=0.000066/8 (ExAC)
-=0.000079/21 (TOPMED)
-=0.000092/23 (GnomAD_exomes)
-=0.000093/13 (GnomAD)
-=0.000259/1 (ALSPAC)
-=0.001438/18 (GoESP)
HGVS:: NC_000005.10:g.119489168AT[1], NC_000005.9:g.118824863AT[1], NG_008182.1:g.41716AT[1]

Select item 14915687733.

rs1491568773 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:119481925 (GRCh38)
5:118817620 (GRCh37)
Canonical SPDI:: NC_000005.10:119481922:CTCT:CT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.119481923CT[1], NC_000005.9:g.118817618CT[1], NG_008182.1:g.34471CT[1]

Select item 14915576964.

rs1491557696 has merged into rs3839243 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 5:119490032 (GRCh38)
5:118825727 (GRCh37)
Canonical SPDI:: NC_000005.10:119490024:CCCCCCCCC:CCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCCCCCC
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000005.10:g.119490032_119490033del, NC_000005.10:g.119490033del, NC_000005.10:g.119490033dup, NC_000005.10:g.119490032_119490033dup, NC_000005.10:g.119490031_119490033dup, NC_000005.9:g.118825727_118825728del, NC_000005.9:g.118825728del, NC_000005.9:g.118825728dup, NC_000005.9:g.118825727_118825728dup, NC_000005.9:g.118825726_118825728dup, NG_008182.1:g.42580_42581del, NG_008182.1:g.42581del, NG_008182.1:g.42581dup, NG_008182.1:g.42580_42581dup, NG_008182.1:g.42579_42581dup

Select item 14915538035.

rs1491553803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:119503742 (GRCh38)
5:118839438 (GRCh37)
Canonical SPDI:: NC_000005.10:119503742:G:GG
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.119503743dup, NC_000005.9:g.118839438dup, NG_008182.1:g.56291dup

Select item 14915350376.

rs1491535037 [Homo sapiens]

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

Select item 14915238137.

rs1491523813 has merged into rs10524491 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:119462261 (GRCh38)
5:118797956 (GRCh37)
Canonical SPDI:: NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119462248:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTT=0.2434/1219 (1000Genomes)
HGVS:: NC_000005.10:g.119462261_119462283del, NC_000005.10:g.119462262_119462283del, NC_000005.10:g.119462263_119462283del, NC_000005.10:g.119462264_119462283del, NC_000005.10:g.119462265_119462283del, NC_000005.10:g.119462266_119462283del, NC_000005.10:g.119462267_119462283del, NC_000005.10:g.119462268_119462283del, NC_000005.10:g.119462269_119462283del, NC_000005.10:g.119462270_119462283del, NC_000005.10:g.119462271_119462283del, NC_000005.10:g.119462272_119462283del, NC_000005.10:g.119462273_119462283del, NC_000005.10:g.119462274_119462283del, NC_000005.10:g.119462275_119462283del, NC_000005.10:g.119462276_119462283del, NC_000005.10:g.119462277_119462283del, NC_000005.10:g.119462278_119462283del, NC_000005.10:g.119462279_119462283del, NC_000005.10:g.119462280_119462283del, NC_000005.10:g.119462281_119462283del, NC_000005.10:g.119462282_119462283del, NC_000005.10:g.119462283del, NC_000005.10:g.119462283dup, NC_000005.10:g.119462282_119462283dup, NC_000005.10:g.119462281_119462283dup, NC_000005.10:g.119462280_119462283dup, NC_000005.10:g.119462279_119462283dup, NC_000005.10:g.119462278_119462283dup, NC_000005.10:g.119462277_119462283dup, NC_000005.10:g.119462276_119462283dup, NC_000005.10:g.119462275_119462283dup, NC_000005.10:g.119462274_119462283dup, NC_000005.10:g.119462273_119462283dup, NC_000005.10:g.119462272_119462283dup, NC_000005.10:g.119462271_119462283dup, NC_000005.10:g.119462270_119462283dup, NC_000005.10:g.119462269_119462283dup, NC_000005.10:g.119462268_119462283dup, NC_000005.10:g.119462267_119462283dup, NC_000005.10:g.119462266_119462283dup, NC_000005.10:g.119462264_119462283dup, NC_000005.10:g.119462261_119462283dup, NC_000005.10:g.119462260_119462283dup, NC_000005.10:g.119462259_119462283dup, NC_000005.10:g.119462258_119462283dup, NC_000005.10:g.119462257_119462283dup, NC_000005.10:g.119462256_119462283dup, NC_000005.10:g.119462255_119462283dup, NC_000005.10:g.119462283_119462284insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.118797956_118797978del, NC_000005.9:g.118797957_118797978del, NC_000005.9:g.118797958_118797978del, NC_000005.9:g.118797959_118797978del, NC_000005.9:g.118797960_118797978del, NC_000005.9:g.118797961_118797978del, NC_000005.9:g.118797962_118797978del, NC_000005.9:g.118797963_118797978del, NC_000005.9:g.118797964_118797978del, NC_000005.9:g.118797965_118797978del, NC_000005.9:g.118797966_118797978del, NC_000005.9:g.118797967_118797978del, NC_000005.9:g.118797968_118797978del, NC_000005.9:g.118797969_118797978del, NC_000005.9:g.118797970_118797978del, NC_000005.9:g.118797971_118797978del, NC_000005.9:g.118797972_118797978del, NC_000005.9:g.118797973_118797978del, NC_000005.9:g.118797974_118797978del, NC_000005.9:g.118797975_118797978del, NC_000005.9:g.118797976_118797978del, NC_000005.9:g.118797977_118797978del, NC_000005.9:g.118797978del, NC_000005.9:g.118797978dup, NC_000005.9:g.118797977_118797978dup, NC_000005.9:g.118797976_118797978dup, NC_000005.9:g.118797975_118797978dup, NC_000005.9:g.118797974_118797978dup, NC_000005.9:g.118797973_118797978dup, NC_000005.9:g.118797972_118797978dup, NC_000005.9:g.118797971_118797978dup, NC_000005.9:g.118797970_118797978dup, NC_000005.9:g.118797969_118797978dup, NC_000005.9:g.118797968_118797978dup, NC_000005.9:g.118797967_118797978dup, NC_000005.9:g.118797966_118797978dup, NC_000005.9:g.118797965_118797978dup, NC_000005.9:g.118797964_118797978dup, NC_000005.9:g.118797963_118797978dup, NC_000005.9:g.118797962_118797978dup, NC_000005.9:g.118797961_118797978dup, NC_000005.9:g.118797959_118797978dup, NC_000005.9:g.118797956_118797978dup, NC_000005.9:g.118797955_118797978dup, NC_000005.9:g.118797954_118797978dup, NC_000005.9:g.118797953_118797978dup, NC_000005.9:g.118797952_118797978dup, NC_000005.9:g.118797951_118797978dup, NC_000005.9:g.118797950_118797978dup, NC_000005.9:g.118797978_118797979insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008182.1:g.14809_14831del, NG_008182.1:g.14810_14831del, NG_008182.1:g.14811_14831del, NG_008182.1:g.14812_14831del, NG_008182.1:g.14813_14831del, NG_008182.1:g.14814_14831del, NG_008182.1:g.14815_14831del, NG_008182.1:g.14816_14831del, NG_008182.1:g.14817_14831del, NG_008182.1:g.14818_14831del, NG_008182.1:g.14819_14831del, NG_008182.1:g.14820_14831del, NG_008182.1:g.14821_14831del, NG_008182.1:g.14822_14831del, NG_008182.1:g.14823_14831del, NG_008182.1:g.14824_14831del, NG_008182.1:g.14825_14831del, NG_008182.1:g.14826_14831del, NG_008182.1:g.14827_14831del, NG_008182.1:g.14828_14831del, NG_008182.1:g.14829_14831del, NG_008182.1:g.14830_14831del, NG_008182.1:g.14831del, NG_008182.1:g.14831dup, NG_008182.1:g.14830_14831dup, NG_008182.1:g.14829_14831dup, NG_008182.1:g.14828_14831dup, NG_008182.1:g.14827_14831dup, NG_008182.1:g.14826_14831dup, NG_008182.1:g.14825_14831dup, NG_008182.1:g.14824_14831dup, NG_008182.1:g.14823_14831dup, NG_008182.1:g.14822_14831dup, NG_008182.1:g.14821_14831dup, NG_008182.1:g.14820_14831dup, NG_008182.1:g.14819_14831dup, NG_008182.1:g.14818_14831dup, NG_008182.1:g.14817_14831dup, NG_008182.1:g.14816_14831dup, NG_008182.1:g.14815_14831dup, NG_008182.1:g.14814_14831dup, NG_008182.1:g.14812_14831dup, NG_008182.1:g.14809_14831dup, NG_008182.1:g.14808_14831dup, NG_008182.1:g.14807_14831dup, NG_008182.1:g.14806_14831dup, NG_008182.1:g.14805_14831dup, NG_008182.1:g.14804_14831dup, NG_008182.1:g.14803_14831dup, NG_008182.1:g.14831_14832insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915155118.

rs1491515511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 5:119531566 (GRCh38)
5:118867262 (GRCh37)
Canonical SPDI:: NC_000005.10:119531566:G:GTG,NC_000005.10:119531566:G:GTGTG,NC_000005.10:119531566:G:GTGTGTG,NC_000005.10:119531566:G:GTGTGTGTG,NC_000005.10:119531566:G:GTGTGTGTGTG,NC_000005.10:119531566:G:GTGTGTGTGTGTG,NC_000005.10:119531566:G:GTGTGTGTGTGTGTGTG
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
GT=0.00003/1 (GnomAD)
HGVS:: NC_000005.10:g.119531567_119531568insTG, NC_000005.10:g.119531567_119531568insTGTG, NC_000005.10:g.119531568TG[3], NC_000005.10:g.119531568TG[4], NC_000005.10:g.119531568TG[5], NC_000005.10:g.119531568TG[6], NC_000005.10:g.119531568TG[8], NC_000005.9:g.118867262_118867263insTG, NC_000005.9:g.118867262_118867263insTGTG, NC_000005.9:g.118867263TG[3], NC_000005.9:g.118867263TG[4], NC_000005.9:g.118867263TG[5], NC_000005.9:g.118867263TG[6], NC_000005.9:g.118867263TG[8], NG_008182.1:g.84115_84116insTG, NG_008182.1:g.84115_84116insTGTG, NG_008182.1:g.84116TG[3], NG_008182.1:g.84116TG[4], NG_008182.1:g.84116TG[5], NG_008182.1:g.84116TG[6], NG_008182.1:g.84116TG[8]

Select item 14915025689.

rs1491502568 has merged into rs3839243 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 5:119490032 (GRCh38)
5:118825727 (GRCh37)
Canonical SPDI:: NC_000005.10:119490024:CCCCCCCCC:CCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCCCCC,NC_000005.10:119490024:CCCCCCCCC:CCCCCCCCCCCC
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000005.10:g.119490032_119490033del, NC_000005.10:g.119490033del, NC_000005.10:g.119490033dup, NC_000005.10:g.119490032_119490033dup, NC_000005.10:g.119490031_119490033dup, NC_000005.9:g.118825727_118825728del, NC_000005.9:g.118825728del, NC_000005.9:g.118825728dup, NC_000005.9:g.118825727_118825728dup, NC_000005.9:g.118825726_118825728dup, NG_008182.1:g.42580_42581del, NG_008182.1:g.42581del, NG_008182.1:g.42581dup, NG_008182.1:g.42580_42581dup, NG_008182.1:g.42579_42581dup

Select item 149145892910.

rs1491458929 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:119503743 (GRCh38)
5:118839438 (GRCh37)
Canonical SPDI:: NC_000005.10:119503741:TGT:T
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000031/4 (GnomAD)
HGVS:: NC_000005.10:g.119503743_119503744del, NC_000005.9:g.118839438_118839439del, NG_008182.1:g.56291_56292del

Select item 149145005811.

rs1491450058 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:119508229 (GRCh38)
5:118843925 (GRCh37)
Canonical SPDI:: NC_000005.10:119508229::A
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00012/2 (ALFA)
HGVS:: NC_000005.10:g.119508229_119508230insA, NC_000005.9:g.118843924_118843925insA, NG_008182.1:g.60777_60778insA

Select item 149143403712.

rs1491434037 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:119462248 (GRCh38)
5:118797943 (GRCh37)
Canonical SPDI:: NC_000005.10:119462247:AT:
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00396/47 (ALFA)
HGVS:: NC_000005.10:g.119462248_119462249del, NC_000005.9:g.118797943_118797944del, NG_008182.1:g.14796_14797del

Select item 149137036513.

rs1491370365 has merged into rs759039800 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:119503088 (GRCh38)
5:118838783 (GRCh37)
Canonical SPDI:: NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:119503076:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.119503078GT[5], NC_000005.10:g.119503078GT[8], NC_000005.10:g.119503078GT[9], NC_000005.10:g.119503078GT[10], NC_000005.10:g.119503078GT[11], NC_000005.10:g.119503078GT[12], NC_000005.10:g.119503078GT[13], NC_000005.10:g.119503078GT[14], NC_000005.10:g.119503078GT[15], NC_000005.10:g.119503078GT[16], NC_000005.10:g.119503078GT[17], NC_000005.10:g.119503078GT[18], NC_000005.10:g.119503078GT[20], NC_000005.10:g.119503078GT[21], NC_000005.10:g.119503078GT[22], NC_000005.10:g.119503078GT[23], NC_000005.10:g.119503078GT[24], NC_000005.10:g.119503078GT[25], NC_000005.10:g.119503078GT[26], NC_000005.10:g.119503078GT[27], NC_000005.10:g.119503078GT[28], NC_000005.10:g.119503078GT[29], NC_000005.10:g.119503078GT[30], NC_000005.10:g.119503078GT[31], NC_000005.10:g.119503078GT[32], NC_000005.10:g.119503078GT[33], NC_000005.10:g.119503078GT[34], NC_000005.9:g.118838773GT[5], NC_000005.9:g.118838773GT[8], NC_000005.9:g.118838773GT[9], NC_000005.9:g.118838773GT[10], NC_000005.9:g.118838773GT[11], NC_000005.9:g.118838773GT[12], NC_000005.9:g.118838773GT[13], NC_000005.9:g.118838773GT[14], NC_000005.9:g.118838773GT[15], NC_000005.9:g.118838773GT[16], NC_000005.9:g.118838773GT[17], NC_000005.9:g.118838773GT[18], NC_000005.9:g.118838773GT[20], NC_000005.9:g.118838773GT[21], NC_000005.9:g.118838773GT[22], NC_000005.9:g.118838773GT[23], NC_000005.9:g.118838773GT[24], NC_000005.9:g.118838773GT[25], NC_000005.9:g.118838773GT[26], NC_000005.9:g.118838773GT[27], NC_000005.9:g.118838773GT[28], NC_000005.9:g.118838773GT[29], NC_000005.9:g.118838773GT[30], NC_000005.9:g.118838773GT[31], NC_000005.9:g.118838773GT[32], NC_000005.9:g.118838773GT[33], NC_000005.9:g.118838773GT[34], NG_008182.1:g.55626GT[5], NG_008182.1:g.55626GT[8], NG_008182.1:g.55626GT[9], NG_008182.1:g.55626GT[10], NG_008182.1:g.55626GT[11], NG_008182.1:g.55626GT[12], NG_008182.1:g.55626GT[13], NG_008182.1:g.55626GT[14], NG_008182.1:g.55626GT[15], NG_008182.1:g.55626GT[16], NG_008182.1:g.55626GT[17], NG_008182.1:g.55626GT[18], NG_008182.1:g.55626GT[20], NG_008182.1:g.55626GT[21], NG_008182.1:g.55626GT[22], NG_008182.1:g.55626GT[23], NG_008182.1:g.55626GT[24], NG_008182.1:g.55626GT[25], NG_008182.1:g.55626GT[26], NG_008182.1:g.55626GT[27], NG_008182.1:g.55626GT[28], NG_008182.1:g.55626GT[29], NG_008182.1:g.55626GT[30], NG_008182.1:g.55626GT[31], NG_008182.1:g.55626GT[32], NG_008182.1:g.55626GT[33], NG_008182.1:g.55626GT[34]

Select item 149135972814.

rs1491359728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATG [Show Flanks]
Chromosome:: 5:119501397 (GRCh38)
5:118837093 (GRCh37)
Canonical SPDI:: NC_000005.10:119501397:TGTATG:TGTATGTATG
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATGTATG=0./0 (ALFA)
TGTA=0.000029/4 (GnomAD)
TGTA=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.119501400_119501403dup, NC_000005.9:g.118837095_118837098dup, NG_008182.1:g.53948_53951dup

Select item 149131142315.

rs1491311423 has merged into rs200829499 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 5:119455558 (GRCh38)
5:118791253 (GRCh37)
Canonical SPDI:: NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000005.10:119455542:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
TCTCTCTCTCTCTCTC=0.000004/1 (TOPMED)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000005.10:g.119455544CT[7], NC_000005.10:g.119455544CT[8], NC_000005.10:g.119455544CT[9], NC_000005.10:g.119455544CT[10], NC_000005.10:g.119455544CT[11], NC_000005.10:g.119455544CT[12], NC_000005.10:g.119455544CT[14], NC_000005.10:g.119455544CT[15], NC_000005.10:g.119455544CT[16], NC_000005.10:g.119455544CT[17], NC_000005.10:g.119455544CT[18], NC_000005.10:g.119455544CT[20], NC_000005.10:g.119455544CT[21], NC_000005.9:g.118791239CT[7], NC_000005.9:g.118791239CT[8], NC_000005.9:g.118791239CT[9], NC_000005.9:g.118791239CT[10], NC_000005.9:g.118791239CT[11], NC_000005.9:g.118791239CT[12], NC_000005.9:g.118791239CT[14], NC_000005.9:g.118791239CT[15], NC_000005.9:g.118791239CT[16], NC_000005.9:g.118791239CT[17], NC_000005.9:g.118791239CT[18], NC_000005.9:g.118791239CT[20], NC_000005.9:g.118791239CT[21], NG_008182.1:g.8092CT[7], NG_008182.1:g.8092CT[8], NG_008182.1:g.8092CT[9], NG_008182.1:g.8092CT[10], NG_008182.1:g.8092CT[11], NG_008182.1:g.8092CT[12], NG_008182.1:g.8092CT[14], NG_008182.1:g.8092CT[15], NG_008182.1:g.8092CT[16], NG_008182.1:g.8092CT[17], NG_008182.1:g.8092CT[18], NG_008182.1:g.8092CT[20], NG_008182.1:g.8092CT[21]

Select item 149129733216.

rs1491297332 has merged into rs11308278 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:119491474 (GRCh38)
5:118827169 (GRCh37)
Canonical SPDI:: NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:119491461:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.081/312 (ALSPAC)
T=0.3488/1747 (1000Genomes)
HGVS:: NC_000005.10:g.119491474_119491479del, NC_000005.10:g.119491475_119491479del, NC_000005.10:g.119491476_119491479del, NC_000005.10:g.119491477_119491479del, NC_000005.10:g.119491478_119491479del, NC_000005.10:g.119491479del, NC_000005.10:g.119491479dup, NC_000005.10:g.119491478_119491479dup, NC_000005.10:g.119491476_119491479dup, NC_000005.10:g.119491471_119491479dup, NC_000005.10:g.119491465_119491479dup, NC_000005.9:g.118827169_118827174del, NC_000005.9:g.118827170_118827174del, NC_000005.9:g.118827171_118827174del, NC_000005.9:g.118827172_118827174del, NC_000005.9:g.118827173_118827174del, NC_000005.9:g.118827174del, NC_000005.9:g.118827174dup, NC_000005.9:g.118827173_118827174dup, NC_000005.9:g.118827171_118827174dup, NC_000005.9:g.118827166_118827174dup, NC_000005.9:g.118827160_118827174dup, NG_008182.1:g.44022_44027del, NG_008182.1:g.44023_44027del, NG_008182.1:g.44024_44027del, NG_008182.1:g.44025_44027del, NG_008182.1:g.44026_44027del, NG_008182.1:g.44027del, NG_008182.1:g.44027dup, NG_008182.1:g.44026_44027dup, NG_008182.1:g.44024_44027dup, NG_008182.1:g.44019_44027dup, NG_008182.1:g.44013_44027dup

Select item 149118482417.

rs1491184824 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:119502536 (GRCh38)
5:118838231 (GRCh37)
Canonical SPDI:: NC_000005.10:119502534:TTT:T
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.119502536_119502537del, NC_000005.9:g.118838231_118838232del, NG_008182.1:g.55084_55085del

Select item 149113556818.

rs1491135568 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:119501399 (GRCh38)
5:118837094 (GRCh37)
Canonical SPDI:: NC_000005.10:119501396:GTGT:GT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.119501397GT[1], NC_000005.9:g.118837092GT[1], NG_008182.1:g.53945GT[1]

Select item 149112160219.

rs1491121602 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 5:119508229 (GRCh38)
5:118843924 (GRCh37)
Canonical SPDI:: NC_000005.10:119508228:CC:
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0005/2 (ALFA)
HGVS:: NC_000005.10:g.119508229_119508230del, NC_000005.9:g.118843924_118843925del, NG_008182.1:g.60777_60778del

Select item 149108199620.

rs1491081996 has merged into rs34680033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 5:119495048 (GRCh38)
5:118830743 (GRCh37)
Canonical SPDI:: NC_000005.10:119495039:TTTTTTTTTT:TTTTTTTT,NC_000005.10:119495039:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:119495039:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:119495039:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: HSD17B4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.046823/28 (NorthernSweden)
T=0.096694/25594 (TOPMED)
-=0.278207/180 (1000Genomes)
-=0.472792/7924 (TOMMO)
HGVS:: NC_000005.10:g.119495048_119495049del, NC_000005.10:g.119495049del, NC_000005.10:g.119495049dup, NC_000005.10:g.119495048_119495049dup, NC_000005.9:g.118830743_118830744del, NC_000005.9:g.118830744del, NC_000005.9:g.118830744dup, NC_000005.9:g.118830743_118830744dup, NG_008182.1:g.47596_47597del, NG_008182.1:g.47597del, NG_008182.1:g.47597dup, NG_008182.1:g.47596_47597dup

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