SNP Links for Gene (Select 5214) - SNP

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Select item 14915586971.

rs1491558697 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:3121599 (GRCh38)
10:3163791 (GRCh37)
Canonical SPDI:: NC_000010.11:3121598:TC:
Gene:: PFKP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.3121599_3121600del, NC_000010.10:g.3163791_3163792del, NG_051598.1:g.59126_59127del

Select item 14915446862.

rs1491544686 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:3102250 (GRCh38)
10:3144442 (GRCh37)
Canonical SPDI:: NC_000010.11:3102249:CA:
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.01855/220 (ALFA)
HGVS:: NC_000010.11:g.3102250_3102251del, NC_000010.10:g.3144442_3144443del, NG_051598.1:g.39777_39778del

Select item 14914996173.

rs1491499617 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACACAC [Show Flanks]
Chromosome:: 10:3074875 (GRCh38)
10:3117068 (GRCh37)
Canonical SPDI:: NC_000010.11:3074875:CACACACACAC:CACACACACACCACACACACAC
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACCACACACACAC=0./0 (ALFA)
CACACACACAC=0.000029/4 (GnomAD)
CACACACACAC=0.000045/12 (TOPMED)
HGVS:: NC_000010.11:g.3074876_3074886dup, NC_000010.10:g.3117068_3117078dup, NG_051598.1:g.12403_12413dup

Select item 14914952144.

rs1491495214 has merged into rs71294492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3100871 (GRCh38)
10:3143063 (GRCh37)
Canonical SPDI:: NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3100862:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PFKP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.4034/2020 (1000Genomes)
HGVS:: NC_000010.11:g.3100871_3100882del, NC_000010.11:g.3100874_3100882del, NC_000010.11:g.3100875_3100882del, NC_000010.11:g.3100876_3100882del, NC_000010.11:g.3100877_3100882del, NC_000010.11:g.3100878_3100882del, NC_000010.11:g.3100879_3100882del, NC_000010.11:g.3100880_3100882del, NC_000010.11:g.3100881_3100882del, NC_000010.11:g.3100882del, NC_000010.11:g.3100882dup, NC_000010.11:g.3100881_3100882dup, NC_000010.11:g.3100880_3100882dup, NC_000010.11:g.3100879_3100882dup, NC_000010.11:g.3100878_3100882dup, NC_000010.11:g.3100877_3100882dup, NC_000010.11:g.3100876_3100882dup, NC_000010.11:g.3100875_3100882dup, NC_000010.11:g.3100874_3100882dup, NC_000010.11:g.3100873_3100882dup, NC_000010.11:g.3100872_3100882dup, NC_000010.11:g.3100871_3100882dup, NC_000010.11:g.3100870_3100882dup, NC_000010.11:g.3100869_3100882dup, NC_000010.11:g.3100868_3100882dup, NC_000010.11:g.3100867_3100882dup, NC_000010.11:g.3100866_3100882dup, NC_000010.11:g.3100865_3100882dup, NC_000010.11:g.3100864_3100882dup, NC_000010.11:g.3100882_3100883insAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3100882_3100883insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3143063_3143074del, NC_000010.10:g.3143066_3143074del, NC_000010.10:g.3143067_3143074del, NC_000010.10:g.3143068_3143074del, NC_000010.10:g.3143069_3143074del, NC_000010.10:g.3143070_3143074del, NC_000010.10:g.3143071_3143074del, NC_000010.10:g.3143072_3143074del, NC_000010.10:g.3143073_3143074del, NC_000010.10:g.3143074del, NC_000010.10:g.3143074dup, NC_000010.10:g.3143073_3143074dup, NC_000010.10:g.3143072_3143074dup, NC_000010.10:g.3143071_3143074dup, NC_000010.10:g.3143070_3143074dup, NC_000010.10:g.3143069_3143074dup, NC_000010.10:g.3143068_3143074dup, NC_000010.10:g.3143067_3143074dup, NC_000010.10:g.3143066_3143074dup, NC_000010.10:g.3143065_3143074dup, NC_000010.10:g.3143064_3143074dup, NC_000010.10:g.3143063_3143074dup, NC_000010.10:g.3143062_3143074dup, NC_000010.10:g.3143061_3143074dup, NC_000010.10:g.3143060_3143074dup, NC_000010.10:g.3143059_3143074dup, NC_000010.10:g.3143058_3143074dup, NC_000010.10:g.3143057_3143074dup, NC_000010.10:g.3143056_3143074dup, NC_000010.10:g.3143074_3143075insAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3143074_3143075insAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.38398_38409del, NG_051598.1:g.38401_38409del, NG_051598.1:g.38402_38409del, NG_051598.1:g.38403_38409del, NG_051598.1:g.38404_38409del, NG_051598.1:g.38405_38409del, NG_051598.1:g.38406_38409del, NG_051598.1:g.38407_38409del, NG_051598.1:g.38408_38409del, NG_051598.1:g.38409del, NG_051598.1:g.38409dup, NG_051598.1:g.38408_38409dup, NG_051598.1:g.38407_38409dup, NG_051598.1:g.38406_38409dup, NG_051598.1:g.38405_38409dup, NG_051598.1:g.38404_38409dup, NG_051598.1:g.38403_38409dup, NG_051598.1:g.38402_38409dup, NG_051598.1:g.38401_38409dup, NG_051598.1:g.38400_38409dup, NG_051598.1:g.38399_38409dup, NG_051598.1:g.38398_38409dup, NG_051598.1:g.38397_38409dup, NG_051598.1:g.38396_38409dup, NG_051598.1:g.38395_38409dup, NG_051598.1:g.38394_38409dup, NG_051598.1:g.38393_38409dup, NG_051598.1:g.38392_38409dup, NG_051598.1:g.38391_38409dup, NG_051598.1:g.38409_38410insAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.38409_38410insAAAAAAAAAAAAAAAAAAAAAA

Select item 14914720515.

rs1491472051 has merged into rs869281524 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3080527 (GRCh38)
10:3122719 (GRCh37)
Canonical SPDI:: NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3080516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.3080527_3080540del, NC_000010.11:g.3080530_3080540del, NC_000010.11:g.3080531_3080540del, NC_000010.11:g.3080532_3080540del, NC_000010.11:g.3080533_3080540del, NC_000010.11:g.3080534_3080540del, NC_000010.11:g.3080535_3080540del, NC_000010.11:g.3080536_3080540del, NC_000010.11:g.3080537_3080540del, NC_000010.11:g.3080538_3080540del, NC_000010.11:g.3080539_3080540del, NC_000010.11:g.3080540del, NC_000010.11:g.3080540dup, NC_000010.11:g.3080539_3080540dup, NC_000010.11:g.3080538_3080540dup, NC_000010.11:g.3080537_3080540dup, NC_000010.11:g.3080536_3080540dup, NC_000010.11:g.3080535_3080540dup, NC_000010.11:g.3080534_3080540dup, NC_000010.11:g.3080533_3080540dup, NC_000010.11:g.3080532_3080540dup, NC_000010.11:g.3080531_3080540dup, NC_000010.11:g.3080530_3080540dup, NC_000010.10:g.3122719_3122732del, NC_000010.10:g.3122722_3122732del, NC_000010.10:g.3122723_3122732del, NC_000010.10:g.3122724_3122732del, NC_000010.10:g.3122725_3122732del, NC_000010.10:g.3122726_3122732del, NC_000010.10:g.3122727_3122732del, NC_000010.10:g.3122728_3122732del, NC_000010.10:g.3122729_3122732del, NC_000010.10:g.3122730_3122732del, NC_000010.10:g.3122731_3122732del, NC_000010.10:g.3122732del, NC_000010.10:g.3122732dup, NC_000010.10:g.3122731_3122732dup, NC_000010.10:g.3122730_3122732dup, NC_000010.10:g.3122729_3122732dup, NC_000010.10:g.3122728_3122732dup, NC_000010.10:g.3122727_3122732dup, NC_000010.10:g.3122726_3122732dup, NC_000010.10:g.3122725_3122732dup, NC_000010.10:g.3122724_3122732dup, NC_000010.10:g.3122723_3122732dup, NC_000010.10:g.3122722_3122732dup, NG_051598.1:g.18054_18067del, NG_051598.1:g.18057_18067del, NG_051598.1:g.18058_18067del, NG_051598.1:g.18059_18067del, NG_051598.1:g.18060_18067del, NG_051598.1:g.18061_18067del, NG_051598.1:g.18062_18067del, NG_051598.1:g.18063_18067del, NG_051598.1:g.18064_18067del, NG_051598.1:g.18065_18067del, NG_051598.1:g.18066_18067del, NG_051598.1:g.18067del, NG_051598.1:g.18067dup, NG_051598.1:g.18066_18067dup, NG_051598.1:g.18065_18067dup, NG_051598.1:g.18064_18067dup, NG_051598.1:g.18063_18067dup, NG_051598.1:g.18062_18067dup, NG_051598.1:g.18061_18067dup, NG_051598.1:g.18060_18067dup, NG_051598.1:g.18059_18067dup, NG_051598.1:g.18058_18067dup, NG_051598.1:g.18057_18067dup

Select item 14914688176.

rs1491468817 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:3092692 (GRCh38)
10:3134884 (GRCh37)
Canonical SPDI:: NC_000010.11:3092691:GA:
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.3092692_3092693del, NC_000010.10:g.3134884_3134885del, NG_051598.1:g.30219_30220del

Select item 14914386707.

rs1491438670 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA,TAAAAAAAAATAAA,TAAAAAAAATAAA [Show Flanks]
Chromosome:: 10:3100863 (GRCh38)
10:3143056 (GRCh37)
Canonical SPDI:: NC_000010.11:3100863:AAA:AAATAAA,NC_000010.11:3100863:AAA:AAATAAAAAAAAATAAA,NC_000010.11:3100863:AAA:AAATAAAAAAAATAAA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAAAAAAAATAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.3100866_3100867insTAAA, NC_000010.11:g.3100866_3100867insTAAAAAAAAATAAA, NC_000010.11:g.3100866_3100867insTAAAAAAAATAAA, NC_000010.10:g.3143058_3143059insTAAA, NC_000010.10:g.3143058_3143059insTAAAAAAAAATAAA, NC_000010.10:g.3143058_3143059insTAAAAAAAATAAA, NG_051598.1:g.38393_38394insTAAA, NG_051598.1:g.38393_38394insTAAAAAAAAATAAA, NG_051598.1:g.38393_38394insTAAAAAAAATAAA

Select item 14913688448.

rs1491368844 has merged into rs757381364 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3102263 (GRCh38)
10:3144455 (GRCh37)
Canonical SPDI:: NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000010.11:g.3102263_3102273del, NC_000010.11:g.3102264_3102273del, NC_000010.11:g.3102265_3102273del, NC_000010.11:g.3102266_3102273del, NC_000010.11:g.3102267_3102273del, NC_000010.11:g.3102268_3102273del, NC_000010.11:g.3102269_3102273del, NC_000010.11:g.3102270_3102273del, NC_000010.11:g.3102271_3102273del, NC_000010.11:g.3102272_3102273del, NC_000010.11:g.3102273del, NC_000010.11:g.3102273dup, NC_000010.11:g.3102272_3102273dup, NC_000010.11:g.3102271_3102273dup, NC_000010.11:g.3102270_3102273dup, NC_000010.11:g.3102269_3102273dup, NC_000010.11:g.3102268_3102273dup, NC_000010.11:g.3102267_3102273dup, NC_000010.11:g.3102266_3102273dup, NC_000010.11:g.3102265_3102273dup, NC_000010.11:g.3102264_3102273dup, NC_000010.11:g.3102263_3102273dup, NC_000010.11:g.3102262_3102273dup, NC_000010.11:g.3102261_3102273dup, NC_000010.11:g.3102260_3102273dup, NC_000010.11:g.3102259_3102273dup, NC_000010.11:g.3102258_3102273dup, NC_000010.11:g.3102273_3102274insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3144455_3144465del, NC_000010.10:g.3144456_3144465del, NC_000010.10:g.3144457_3144465del, NC_000010.10:g.3144458_3144465del, NC_000010.10:g.3144459_3144465del, NC_000010.10:g.3144460_3144465del, NC_000010.10:g.3144461_3144465del, NC_000010.10:g.3144462_3144465del, NC_000010.10:g.3144463_3144465del, NC_000010.10:g.3144464_3144465del, NC_000010.10:g.3144465del, NC_000010.10:g.3144465dup, NC_000010.10:g.3144464_3144465dup, NC_000010.10:g.3144463_3144465dup, NC_000010.10:g.3144462_3144465dup, NC_000010.10:g.3144461_3144465dup, NC_000010.10:g.3144460_3144465dup, NC_000010.10:g.3144459_3144465dup, NC_000010.10:g.3144458_3144465dup, NC_000010.10:g.3144457_3144465dup, NC_000010.10:g.3144456_3144465dup, NC_000010.10:g.3144455_3144465dup, NC_000010.10:g.3144454_3144465dup, NC_000010.10:g.3144453_3144465dup, NC_000010.10:g.3144452_3144465dup, NC_000010.10:g.3144451_3144465dup, NC_000010.10:g.3144450_3144465dup, NC_000010.10:g.3144465_3144466insAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.39790_39800del, NG_051598.1:g.39791_39800del, NG_051598.1:g.39792_39800del, NG_051598.1:g.39793_39800del, NG_051598.1:g.39794_39800del, NG_051598.1:g.39795_39800del, NG_051598.1:g.39796_39800del, NG_051598.1:g.39797_39800del, NG_051598.1:g.39798_39800del, NG_051598.1:g.39799_39800del, NG_051598.1:g.39800del, NG_051598.1:g.39800dup, NG_051598.1:g.39799_39800dup, NG_051598.1:g.39798_39800dup, NG_051598.1:g.39797_39800dup, NG_051598.1:g.39796_39800dup, NG_051598.1:g.39795_39800dup, NG_051598.1:g.39794_39800dup, NG_051598.1:g.39793_39800dup, NG_051598.1:g.39792_39800dup, NG_051598.1:g.39791_39800dup, NG_051598.1:g.39790_39800dup, NG_051598.1:g.39789_39800dup, NG_051598.1:g.39788_39800dup, NG_051598.1:g.39787_39800dup, NG_051598.1:g.39786_39800dup, NG_051598.1:g.39785_39800dup, NG_051598.1:g.39800_39801insAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913674879.

rs1491367487 has merged into rs1224829610 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:3087995 (GRCh38)
10:3130187 (GRCh37)
Canonical SPDI:: NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:3087984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PFKP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.3087995_3088006del, NC_000010.11:g.3087997_3088006del, NC_000010.11:g.3087998_3088006del, NC_000010.11:g.3088000_3088006del, NC_000010.11:g.3088001_3088006del, NC_000010.11:g.3088002_3088006del, NC_000010.11:g.3088003_3088006del, NC_000010.11:g.3088004_3088006del, NC_000010.11:g.3088005_3088006del, NC_000010.11:g.3088006del, NC_000010.11:g.3088006dup, NC_000010.11:g.3088005_3088006dup, NC_000010.11:g.3088004_3088006dup, NC_000010.11:g.3088003_3088006dup, NC_000010.11:g.3088002_3088006dup, NC_000010.11:g.3088001_3088006dup, NC_000010.11:g.3088000_3088006dup, NC_000010.11:g.3087999_3088006dup, NC_000010.11:g.3087998_3088006dup, NC_000010.11:g.3087997_3088006dup, NC_000010.11:g.3087996_3088006dup, NC_000010.11:g.3087995_3088006dup, NC_000010.11:g.3087994_3088006dup, NC_000010.11:g.3087993_3088006dup, NC_000010.11:g.3087992_3088006dup, NC_000010.11:g.3087991_3088006dup, NC_000010.11:g.3087989_3088006dup, NC_000010.11:g.3087988_3088006dup, NC_000010.11:g.3087987_3088006dup, NC_000010.11:g.3087986_3088006dup, NC_000010.11:g.3088006_3088007insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.3088006_3088007insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.3088006_3088007insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.3130187_3130198del, NC_000010.10:g.3130189_3130198del, NC_000010.10:g.3130190_3130198del, NC_000010.10:g.3130192_3130198del, NC_000010.10:g.3130193_3130198del, NC_000010.10:g.3130194_3130198del, NC_000010.10:g.3130195_3130198del, NC_000010.10:g.3130196_3130198del, NC_000010.10:g.3130197_3130198del, NC_000010.10:g.3130198del, NC_000010.10:g.3130198dup, NC_000010.10:g.3130197_3130198dup, NC_000010.10:g.3130196_3130198dup, NC_000010.10:g.3130195_3130198dup, NC_000010.10:g.3130194_3130198dup, NC_000010.10:g.3130193_3130198dup, NC_000010.10:g.3130192_3130198dup, NC_000010.10:g.3130191_3130198dup, NC_000010.10:g.3130190_3130198dup, NC_000010.10:g.3130189_3130198dup, NC_000010.10:g.3130188_3130198dup, NC_000010.10:g.3130187_3130198dup, NC_000010.10:g.3130186_3130198dup, NC_000010.10:g.3130185_3130198dup, NC_000010.10:g.3130184_3130198dup, NC_000010.10:g.3130183_3130198dup, NC_000010.10:g.3130181_3130198dup, NC_000010.10:g.3130180_3130198dup, NC_000010.10:g.3130179_3130198dup, NC_000010.10:g.3130178_3130198dup, NC_000010.10:g.3130198_3130199insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.3130198_3130199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.3130198_3130199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051598.1:g.25522_25533del, NG_051598.1:g.25524_25533del, NG_051598.1:g.25525_25533del, NG_051598.1:g.25527_25533del, NG_051598.1:g.25528_25533del, NG_051598.1:g.25529_25533del, NG_051598.1:g.25530_25533del, NG_051598.1:g.25531_25533del, NG_051598.1:g.25532_25533del, NG_051598.1:g.25533del, NG_051598.1:g.25533dup, NG_051598.1:g.25532_25533dup, NG_051598.1:g.25531_25533dup, NG_051598.1:g.25530_25533dup, NG_051598.1:g.25529_25533dup, NG_051598.1:g.25528_25533dup, NG_051598.1:g.25527_25533dup, NG_051598.1:g.25526_25533dup, NG_051598.1:g.25525_25533dup, NG_051598.1:g.25524_25533dup, NG_051598.1:g.25523_25533dup, NG_051598.1:g.25522_25533dup, NG_051598.1:g.25521_25533dup, NG_051598.1:g.25520_25533dup, NG_051598.1:g.25519_25533dup, NG_051598.1:g.25518_25533dup, NG_051598.1:g.25516_25533dup, NG_051598.1:g.25515_25533dup, NG_051598.1:g.25514_25533dup, NG_051598.1:g.25513_25533dup, NG_051598.1:g.25533_25534insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051598.1:g.25533_25534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051598.1:g.25533_25534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149136348610.

rs1491363486 has merged into rs57588432 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GGG,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 10:3079668 (GRCh38)
10:3121860 (GRCh37)
Canonical SPDI:: NC_000010.11:3079662:GGGGGGGGGGGG:GGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:3079662:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: PFKP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000010.11:g.3079668_3079674del, NC_000010.11:g.3079671_3079674del, NC_000010.11:g.3079672_3079674del, NC_000010.11:g.3079673_3079674del, NC_000010.11:g.3079674del, NC_000010.11:g.3079674dup, NC_000010.11:g.3079673_3079674dup, NC_000010.11:g.3079672_3079674dup, NC_000010.11:g.3079665_3079674dup, NC_000010.11:g.3079674_3079675insGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.3121860_3121866del, NC_000010.10:g.3121863_3121866del, NC_000010.10:g.3121864_3121866del, NC_000010.10:g.3121865_3121866del, NC_000010.10:g.3121866del, NC_000010.10:g.3121866dup, NC_000010.10:g.3121865_3121866dup, NC_000010.10:g.3121864_3121866dup, NC_000010.10:g.3121857_3121866dup, NC_000010.10:g.3121866_3121867insGGGGGGGGGGGGGGGGGGGG, NG_051598.1:g.17195_17201del, NG_051598.1:g.17198_17201del, NG_051598.1:g.17199_17201del, NG_051598.1:g.17200_17201del, NG_051598.1:g.17201del, NG_051598.1:g.17201dup, NG_051598.1:g.17200_17201dup, NG_051598.1:g.17199_17201dup, NG_051598.1:g.17192_17201dup, NG_051598.1:g.17201_17202insGGGGGGGGGGGGGGGGGGGG

Select item 149135644411.

rs1491356444 has merged into rs5782682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3098683 (GRCh38)
10:3140875 (GRCh37)
Canonical SPDI:: NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3098672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.3614/1810 (1000Genomes)
HGVS:: NC_000010.11:g.3098683_3098690del, NC_000010.11:g.3098684_3098690del, NC_000010.11:g.3098685_3098690del, NC_000010.11:g.3098686_3098690del, NC_000010.11:g.3098687_3098690del, NC_000010.11:g.3098688_3098690del, NC_000010.11:g.3098689_3098690del, NC_000010.11:g.3098690del, NC_000010.11:g.3098690dup, NC_000010.11:g.3098689_3098690dup, NC_000010.11:g.3098688_3098690dup, NC_000010.11:g.3098687_3098690dup, NC_000010.11:g.3098686_3098690dup, NC_000010.11:g.3098685_3098690dup, NC_000010.11:g.3098684_3098690dup, NC_000010.11:g.3098683_3098690dup, NC_000010.11:g.3098682_3098690dup, NC_000010.11:g.3098681_3098690dup, NC_000010.11:g.3098680_3098690dup, NC_000010.11:g.3098679_3098690dup, NC_000010.11:g.3098678_3098690dup, NC_000010.11:g.3098677_3098690dup, NC_000010.11:g.3098676_3098690dup, NC_000010.11:g.3098675_3098690dup, NC_000010.11:g.3098674_3098690dup, NC_000010.11:g.3098673_3098690dup, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.3098690_3098691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140875_3140882del, NC_000010.10:g.3140876_3140882del, NC_000010.10:g.3140877_3140882del, NC_000010.10:g.3140878_3140882del, NC_000010.10:g.3140879_3140882del, NC_000010.10:g.3140880_3140882del, NC_000010.10:g.3140881_3140882del, NC_000010.10:g.3140882del, NC_000010.10:g.3140882dup, NC_000010.10:g.3140881_3140882dup, NC_000010.10:g.3140880_3140882dup, NC_000010.10:g.3140879_3140882dup, NC_000010.10:g.3140878_3140882dup, NC_000010.10:g.3140877_3140882dup, NC_000010.10:g.3140876_3140882dup, NC_000010.10:g.3140875_3140882dup, NC_000010.10:g.3140874_3140882dup, NC_000010.10:g.3140873_3140882dup, NC_000010.10:g.3140872_3140882dup, NC_000010.10:g.3140871_3140882dup, NC_000010.10:g.3140870_3140882dup, NC_000010.10:g.3140869_3140882dup, NC_000010.10:g.3140868_3140882dup, NC_000010.10:g.3140867_3140882dup, NC_000010.10:g.3140866_3140882dup, NC_000010.10:g.3140865_3140882dup, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3140882_3140883insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36210_36217del, NG_051598.1:g.36211_36217del, NG_051598.1:g.36212_36217del, NG_051598.1:g.36213_36217del, NG_051598.1:g.36214_36217del, NG_051598.1:g.36215_36217del, NG_051598.1:g.36216_36217del, NG_051598.1:g.36217del, NG_051598.1:g.36217dup, NG_051598.1:g.36216_36217dup, NG_051598.1:g.36215_36217dup, NG_051598.1:g.36214_36217dup, NG_051598.1:g.36213_36217dup, NG_051598.1:g.36212_36217dup, NG_051598.1:g.36211_36217dup, NG_051598.1:g.36210_36217dup, NG_051598.1:g.36209_36217dup, NG_051598.1:g.36208_36217dup, NG_051598.1:g.36207_36217dup, NG_051598.1:g.36206_36217dup, NG_051598.1:g.36205_36217dup, NG_051598.1:g.36204_36217dup, NG_051598.1:g.36203_36217dup, NG_051598.1:g.36202_36217dup, NG_051598.1:g.36201_36217dup, NG_051598.1:g.36200_36217dup, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.36217_36218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149134427112.

rs1491344271 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 10:3077262 (GRCh38)
10:3119455 (GRCh37)
Canonical SPDI:: NC_000010.11:3077262:TTT:TTTCTTT
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.00506/60 (ALFA)
TTTC=0.06023/1665 (GnomAD)
HGVS:: NC_000010.11:g.3077265_3077266insCTTT, NC_000010.10:g.3119457_3119458insCTTT, NG_051598.1:g.14792_14793insCTTT

Select item 149132999713.

rs1491329997 has merged into rs1491311660 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 10:3080541 (GRCh38)
10:3122733 (GRCh37)
Canonical SPDI:: NC_000010.11:3080539:AGAGA:A,NC_000010.11:3080539:AGAGA:AGA,NC_000010.11:3080539:AGAGA:AGAGAGA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
AG=0.000019/2 (GnomAD)
-=0.08306/152 (Korea1K)
-=0.172241/103 (NorthernSweden)
HGVS:: NC_000010.11:g.3080541_3080544del, NC_000010.11:g.3080541GA[1], NC_000010.11:g.3080541GA[3], NC_000010.10:g.3122733_3122736del, NC_000010.10:g.3122733GA[1], NC_000010.10:g.3122733GA[3], NG_051598.1:g.18068_18071del, NG_051598.1:g.18068GA[1], NG_051598.1:g.18068GA[3]

Select item 149131166014.

rs1491311660 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 10:3080541 (GRCh38)
10:3122733 (GRCh37)
Canonical SPDI:: NC_000010.11:3080539:AGAGA:A,NC_000010.11:3080539:AGAGA:AGA,NC_000010.11:3080539:AGAGA:AGAGAGA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
AG=0.000019/2 (GnomAD)
-=0.08306/152 (Korea1K)
-=0.172241/103 (NorthernSweden)
HGVS:: NC_000010.11:g.3080541_3080544del, NC_000010.11:g.3080541GA[1], NC_000010.11:g.3080541GA[3], NC_000010.10:g.3122733_3122736del, NC_000010.10:g.3122733GA[1], NC_000010.10:g.3122733GA[3], NG_051598.1:g.18068_18071del, NG_051598.1:g.18068GA[1], NG_051598.1:g.18068GA[3]

Select item 149125861515.

rs1491258615 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGAGGTAATGCATCTGC [Show Flanks]
Chromosome:: 10:3111061 (GRCh38)
10:3153254 (GRCh37)
Canonical SPDI:: NC_000010.11:3111061:GTGTGTGAGGTAATGCATCTGC:GTGTGTGAGGTAATGCATCTGCGTGTGTGAGGTAATGCATCTGC
Gene:: PFKP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGAGGTAATGCATCTGCGTGTGTGAGGTAATGCATCTGC=0./0 (ALFA)
HGVS:: NC_000010.11:g.3111062_3111083dup, NC_000010.10:g.3153254_3153275dup, NG_051598.1:g.48589_48610dup

Select item 149123191816.

rs1491231918 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:3097085 (GRCh38)
10:3139277 (GRCh37)
Canonical SPDI:: NC_000010.11:3097083:ACA:A
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.3097085_3097086del, NC_000010.10:g.3139277_3139278del, NG_051598.1:g.34612_34613del

Select item 149122549117.

rs1491225491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 10:3079663 (GRCh38)
10:3121856 (GRCh37)
Canonical SPDI:: NC_000010.11:3079663:G:GCG,NC_000010.11:3079663:G:GTG
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GC=0.00202/31 (TOMMO)
HGVS:: NC_000010.11:g.3079664_3079665insCG, NC_000010.11:g.3079664_3079665insTG, NC_000010.10:g.3121856_3121857insCG, NC_000010.10:g.3121856_3121857insTG, NG_051598.1:g.17191_17192insCG, NG_051598.1:g.17191_17192insTG

Select item 149121157218.

rs1491211572 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:3121599 (GRCh38)
10:3163792 (GRCh37)
Canonical SPDI:: NC_000010.11:3121599:C:CC
Gene:: PFKP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000010.11:g.3121600dup, NC_000010.10:g.3163792dup, NG_051598.1:g.59127dup

Select item 149120630719.

rs1491206307 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:3102251 (GRCh38)
10:3144444 (GRCh37)
Canonical SPDI:: NC_000010.11:3102251::G
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000053/1 (GnomAD)
HGVS:: NC_000010.11:g.3102251_3102252insG, NC_000010.10:g.3144443_3144444insG, NG_051598.1:g.39778_39779insG

Select item 149116298520.

rs1491162985 has merged into rs757381364 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3102263 (GRCh38)
10:3144455 (GRCh37)
Canonical SPDI:: NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3102250:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PFKP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000010.11:g.3102263_3102273del, NC_000010.11:g.3102264_3102273del, NC_000010.11:g.3102265_3102273del, NC_000010.11:g.3102266_3102273del, NC_000010.11:g.3102267_3102273del, NC_000010.11:g.3102268_3102273del, NC_000010.11:g.3102269_3102273del, NC_000010.11:g.3102270_3102273del, NC_000010.11:g.3102271_3102273del, NC_000010.11:g.3102272_3102273del, NC_000010.11:g.3102273del, NC_000010.11:g.3102273dup, NC_000010.11:g.3102272_3102273dup, NC_000010.11:g.3102271_3102273dup, NC_000010.11:g.3102270_3102273dup, NC_000010.11:g.3102269_3102273dup, NC_000010.11:g.3102268_3102273dup, NC_000010.11:g.3102267_3102273dup, NC_000010.11:g.3102266_3102273dup, NC_000010.11:g.3102265_3102273dup, NC_000010.11:g.3102264_3102273dup, NC_000010.11:g.3102263_3102273dup, NC_000010.11:g.3102262_3102273dup, NC_000010.11:g.3102261_3102273dup, NC_000010.11:g.3102260_3102273dup, NC_000010.11:g.3102259_3102273dup, NC_000010.11:g.3102258_3102273dup, NC_000010.11:g.3102273_3102274insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.3144455_3144465del, NC_000010.10:g.3144456_3144465del, NC_000010.10:g.3144457_3144465del, NC_000010.10:g.3144458_3144465del, NC_000010.10:g.3144459_3144465del, NC_000010.10:g.3144460_3144465del, NC_000010.10:g.3144461_3144465del, NC_000010.10:g.3144462_3144465del, NC_000010.10:g.3144463_3144465del, NC_000010.10:g.3144464_3144465del, NC_000010.10:g.3144465del, NC_000010.10:g.3144465dup, NC_000010.10:g.3144464_3144465dup, NC_000010.10:g.3144463_3144465dup, NC_000010.10:g.3144462_3144465dup, NC_000010.10:g.3144461_3144465dup, NC_000010.10:g.3144460_3144465dup, NC_000010.10:g.3144459_3144465dup, NC_000010.10:g.3144458_3144465dup, NC_000010.10:g.3144457_3144465dup, NC_000010.10:g.3144456_3144465dup, NC_000010.10:g.3144455_3144465dup, NC_000010.10:g.3144454_3144465dup, NC_000010.10:g.3144453_3144465dup, NC_000010.10:g.3144452_3144465dup, NC_000010.10:g.3144451_3144465dup, NC_000010.10:g.3144450_3144465dup, NC_000010.10:g.3144465_3144466insAAAAAAAAAAAAAAAAAAAAAAAA, NG_051598.1:g.39790_39800del, NG_051598.1:g.39791_39800del, NG_051598.1:g.39792_39800del, NG_051598.1:g.39793_39800del, NG_051598.1:g.39794_39800del, NG_051598.1:g.39795_39800del, NG_051598.1:g.39796_39800del, NG_051598.1:g.39797_39800del, NG_051598.1:g.39798_39800del, NG_051598.1:g.39799_39800del, NG_051598.1:g.39800del, NG_051598.1:g.39800dup, NG_051598.1:g.39799_39800dup, NG_051598.1:g.39798_39800dup, NG_051598.1:g.39797_39800dup, NG_051598.1:g.39796_39800dup, NG_051598.1:g.39795_39800dup, NG_051598.1:g.39794_39800dup, NG_051598.1:g.39793_39800dup, NG_051598.1:g.39792_39800dup, NG_051598.1:g.39791_39800dup, NG_051598.1:g.39790_39800dup, NG_051598.1:g.39789_39800dup, NG_051598.1:g.39788_39800dup, NG_051598.1:g.39787_39800dup, NG_051598.1:g.39786_39800dup, NG_051598.1:g.39785_39800dup, NG_051598.1:g.39800_39801insAAAAAAAAAAAAAAAAAAAAAAAA

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