SNP Links for Gene (Select 9488) - SNP

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Select item 14914483531.

rs1491448353 has merged into rs748534093 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:55351884 (GRCh38)
15:55644082 (GRCh37)
Canonical SPDI:: NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55351873:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000015.10:g.55351884_55351893del, NC_000015.10:g.55351886_55351893del, NC_000015.10:g.55351887_55351893del, NC_000015.10:g.55351888_55351893del, NC_000015.10:g.55351889_55351893del, NC_000015.10:g.55351890_55351893del, NC_000015.10:g.55351891_55351893del, NC_000015.10:g.55351892_55351893del, NC_000015.10:g.55351893del, NC_000015.10:g.55351893dup, NC_000015.10:g.55351892_55351893dup, NC_000015.10:g.55351891_55351893dup, NC_000015.10:g.55351890_55351893dup, NC_000015.10:g.55351889_55351893dup, NC_000015.10:g.55351888_55351893dup, NC_000015.10:g.55351887_55351893dup, NC_000015.10:g.55351886_55351893dup, NC_000015.10:g.55351885_55351893dup, NC_000015.9:g.55644082_55644091del, NC_000015.9:g.55644084_55644091del, NC_000015.9:g.55644085_55644091del, NC_000015.9:g.55644086_55644091del, NC_000015.9:g.55644087_55644091del, NC_000015.9:g.55644088_55644091del, NC_000015.9:g.55644089_55644091del, NC_000015.9:g.55644090_55644091del, NC_000015.9:g.55644091del, NC_000015.9:g.55644091dup, NC_000015.9:g.55644090_55644091dup, NC_000015.9:g.55644089_55644091dup, NC_000015.9:g.55644088_55644091dup, NC_000015.9:g.55644087_55644091dup, NC_000015.9:g.55644086_55644091dup, NC_000015.9:g.55644085_55644091dup, NC_000015.9:g.55644084_55644091dup, NC_000015.9:g.55644083_55644091dup

Select item 14913600482.

rs1491360048 [Homo sapiens]

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

Select item 14913369933.

rs1491336993 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:55351951 (GRCh38)
15:55644149 (GRCh37)
Canonical SPDI:: NC_000015.10:55351949:TCT:T
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000044/5 (GnomAD)
-=0.000849/14 (TOMMO)
-=0.002217/4 (Korea1K)
HGVS:: NC_000015.10:g.55351951_55351952del, NC_000015.9:g.55644149_55644150del

Select item 14912897804.

rs1491289780 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:55321305 (GRCh38)
15:55613503 (GRCh37)
Canonical SPDI:: NC_000015.10:55321299:AGAGAGA:AGAGA
Gene:: PIGB (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.00001/1 (ExAC)
HGVS:: NC_000015.10:g.55321301GA[2], NC_000015.9:g.55613499GA[2], NM_004855.5:c.332_333del, NM_004855.4:c.332_333del, XM_011522235.4:c.332_333del, XM_011522235.3:c.332_333del, XM_011522235.2:c.332_333del, XM_011522235.1:c.332_333del, XM_011522236.4:c.332_333del, XM_011522236.3:c.332_333del, XM_011522236.2:c.332_333del, XM_011522236.1:c.332_333del, XM_017022730.1:c.-127GA[2], XM_047433365.1:c.332_333del, NP_004846.4:p.Arg111fs, XP_011520537.1:p.Arg111fs, XP_011520538.1:p.Arg111fs, XP_047289321.1:p.Arg111fs

Select item 14912721275.

rs1491272127 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT,CTT [Show Flanks]
Chromosome:: 15:55321647 (GRCh38)
15:55613846 (GRCh37)
Canonical SPDI:: NC_000015.10:55321647:TT:TTATT,NC_000015.10:55321647:TT:TTCTT
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00522/203 (GnomAD)
TTC=0.01752/286 (TOMMO)
HGVS:: NC_000015.10:g.55321649_55321650insATT, NC_000015.10:g.55321649_55321650insCTT, NC_000015.9:g.55613847_55613848insATT, NC_000015.9:g.55613847_55613848insCTT

Select item 14911935816.

rs1491193581 has merged into rs1164109873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:55344902 (GRCh38)
15:55637100 (GRCh37)
Canonical SPDI:: NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55344890:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.55344902_55344913del, NC_000015.10:g.55344903_55344913del, NC_000015.10:g.55344904_55344913del, NC_000015.10:g.55344905_55344913del, NC_000015.10:g.55344907_55344913del, NC_000015.10:g.55344908_55344913del, NC_000015.10:g.55344909_55344913del, NC_000015.10:g.55344910_55344913del, NC_000015.10:g.55344911_55344913del, NC_000015.10:g.55344912_55344913del, NC_000015.10:g.55344913del, NC_000015.10:g.55344913dup, NC_000015.10:g.55344912_55344913dup, NC_000015.10:g.55344911_55344913dup, NC_000015.10:g.55344910_55344913dup, NC_000015.10:g.55344909_55344913dup, NC_000015.10:g.55344908_55344913dup, NC_000015.10:g.55344907_55344913dup, NC_000015.10:g.55344906_55344913dup, NC_000015.10:g.55344905_55344913dup, NC_000015.10:g.55344904_55344913dup, NC_000015.10:g.55344903_55344913dup, NC_000015.10:g.55344902_55344913dup, NC_000015.10:g.55344901_55344913dup, NC_000015.10:g.55344899_55344913dup, NC_000015.9:g.55637100_55637111del, NC_000015.9:g.55637101_55637111del, NC_000015.9:g.55637102_55637111del, NC_000015.9:g.55637103_55637111del, NC_000015.9:g.55637105_55637111del, NC_000015.9:g.55637106_55637111del, NC_000015.9:g.55637107_55637111del, NC_000015.9:g.55637108_55637111del, NC_000015.9:g.55637109_55637111del, NC_000015.9:g.55637110_55637111del, NC_000015.9:g.55637111del, NC_000015.9:g.55637111dup, NC_000015.9:g.55637110_55637111dup, NC_000015.9:g.55637109_55637111dup, NC_000015.9:g.55637108_55637111dup, NC_000015.9:g.55637107_55637111dup, NC_000015.9:g.55637106_55637111dup, NC_000015.9:g.55637105_55637111dup, NC_000015.9:g.55637104_55637111dup, NC_000015.9:g.55637103_55637111dup, NC_000015.9:g.55637102_55637111dup, NC_000015.9:g.55637101_55637111dup, NC_000015.9:g.55637100_55637111dup, NC_000015.9:g.55637099_55637111dup, NC_000015.9:g.55637097_55637111dup

Select item 14911413527.

rs1491141352 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA [Show Flanks]
Chromosome:: 15:55351874 (GRCh38)
15:55644073 (GRCh37)
Canonical SPDI:: NC_000015.10:55351874:AAA:AAACAAA
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAACAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.55351877_55351878insCAAA, NC_000015.9:g.55644075_55644076insCAAA

Select item 14911353608.

rs1491135360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:55351950 (GRCh38)
15:55644149 (GRCh37)
Canonical SPDI:: NC_000015.10:55351950:C:CC
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000015.10:g.55351951dup, NC_000015.9:g.55644149dup

Select item 14911234349.

rs1491123434 has merged into rs966940527 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:55321659 (GRCh38)
15:55613857 (GRCh37)
Canonical SPDI:: NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55321646:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.55321659_55321670del, NC_000015.10:g.55321660_55321670del, NC_000015.10:g.55321661_55321670del, NC_000015.10:g.55321663_55321670del, NC_000015.10:g.55321664_55321670del, NC_000015.10:g.55321665_55321670del, NC_000015.10:g.55321666_55321670del, NC_000015.10:g.55321667_55321670del, NC_000015.10:g.55321668_55321670del, NC_000015.10:g.55321669_55321670del, NC_000015.10:g.55321670del, NC_000015.10:g.55321670dup, NC_000015.10:g.55321669_55321670dup, NC_000015.10:g.55321668_55321670dup, NC_000015.10:g.55321667_55321670dup, NC_000015.10:g.55321666_55321670dup, NC_000015.10:g.55321665_55321670dup, NC_000015.10:g.55321664_55321670dup, NC_000015.10:g.55321663_55321670dup, NC_000015.10:g.55321662_55321670dup, NC_000015.10:g.55321661_55321670dup, NC_000015.10:g.55321660_55321670dup, NC_000015.10:g.55321659_55321670dup, NC_000015.10:g.55321658_55321670dup, NC_000015.10:g.55321647_55321670dup, NC_000015.10:g.55321670_55321671insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.55321670_55321671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.55321670_55321671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.55321670_55321671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.55321670_55321671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.55613857_55613868del, NC_000015.9:g.55613858_55613868del, NC_000015.9:g.55613859_55613868del, NC_000015.9:g.55613861_55613868del, NC_000015.9:g.55613862_55613868del, NC_000015.9:g.55613863_55613868del, NC_000015.9:g.55613864_55613868del, NC_000015.9:g.55613865_55613868del, NC_000015.9:g.55613866_55613868del, NC_000015.9:g.55613867_55613868del, NC_000015.9:g.55613868del, NC_000015.9:g.55613868dup, NC_000015.9:g.55613867_55613868dup, NC_000015.9:g.55613866_55613868dup, NC_000015.9:g.55613865_55613868dup, NC_000015.9:g.55613864_55613868dup, NC_000015.9:g.55613863_55613868dup, NC_000015.9:g.55613862_55613868dup, NC_000015.9:g.55613861_55613868dup, NC_000015.9:g.55613860_55613868dup, NC_000015.9:g.55613859_55613868dup, NC_000015.9:g.55613858_55613868dup, NC_000015.9:g.55613857_55613868dup, NC_000015.9:g.55613856_55613868dup, NC_000015.9:g.55613845_55613868dup, NC_000015.9:g.55613868_55613869insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.55613868_55613869insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.55613868_55613869insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.55613868_55613869insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.55613868_55613869insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099995010.

rs1490999950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55342304 (GRCh38)
15:55634502 (GRCh37)
Canonical SPDI:: NC_000015.10:55342303:A:G
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55342304A>G, NC_000015.9:g.55634502A>G

Select item 149086846811.

rs1490868468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:55318916 (GRCh38)
15:55611114 (GRCh37)
Canonical SPDI:: NC_000015.10:55318915:T:A
Gene:: PIGB (Varview), PIGBOS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.55318916T>A, NC_000015.9:g.55611114T>A, NM_001308421.2:c.-128A>T, NM_001308421.1:c.-128A>T, NM_001308422.2:c.-85A>T, NM_001308422.1:c.-85A>T, XM_047432079.1:c.-164A>T

Select item 149074708812.

rs1490747088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55334997 (GRCh38)
15:55627195 (GRCh37)
Canonical SPDI:: NC_000015.10:55334996:G:A
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.55334997G>A, NC_000015.9:g.55627195G>A

Select item 149068601713.

rs1490686017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:55325922 (GRCh38)
15:55618120 (GRCh37)
Canonical SPDI:: NC_000015.10:55325921:C:G,NC_000015.10:55325921:C:T
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000015.10:g.55325922C>G, NC_000015.10:g.55325922C>T, NC_000015.9:g.55618120C>G, NC_000015.9:g.55618120C>T

Select item 149066372914.

rs1490663729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55351182 (GRCh38)
15:55643380 (GRCh37)
Canonical SPDI:: NC_000015.10:55351181:A:G
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55351182A>G, NC_000015.9:g.55643380A>G

Select item 149059865915.

rs1490598659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55355327 (GRCh38)
15:55647525 (GRCh37)
Canonical SPDI:: NC_000015.10:55355326:T:C
Gene:: CCPG1 (Varview), PIGB (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55355327T>C, NC_000015.9:g.55647525T>C, NM_004748.6:c.*4172A>G, NM_004748.5:c.*4172A>G, NM_004748.4:c.*4172A>G, XM_005254795.6:c.1077T>C, XM_005254795.5:c.1077T>C, XM_005254795.4:c.1077T>C, XM_005254795.3:c.1077T>C, XM_005254795.2:c.1077T>C, XM_005254795.1:c.1077T>C, NM_020739.5:c.*4172A>G, NM_020739.4:c.*4172A>G, NM_020739.3:c.*4172A>G, NM_004855.5:c.1560T>C, NM_004855.4:c.1560T>C, XM_011522235.4:c.1515T>C, XM_011522235.3:c.1515T>C, XM_011522235.2:c.1515T>C, XM_011522235.1:c.1515T>C, XM_011522236.4:c.1455T>C, XM_011522236.3:c.1455T>C, XM_011522236.2:c.1455T>C, XM_011522236.1:c.1455T>C, XM_011522237.3:c.1161T>C, XM_011522237.2:c.1161T>C, XM_011522237.1:c.1161T>C, NM_001204450.2:c.*893A>G, NM_001204450.1:c.*893A>G, NM_001204451.2:c.*893A>G, NM_001204451.1:c.*893A>G, XM_017022731.2:c.1161T>C, XM_017022731.1:c.1161T>C, NR_037923.1:n.4734A>G, XM_047433363.1:c.1161T>C, XM_047433364.1:c.1077T>C, XM_017022730.1:c.1161T>C

Select item 149058403716.

rs1490584037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:55335512 (GRCh38)
15:55627710 (GRCh37)
Canonical SPDI:: NC_000015.10:55335511:C:G
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55335512C>G, NC_000015.9:g.55627710C>G

Select item 149048106817.

rs1490481068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55342822 (GRCh38)
15:55635020 (GRCh37)
Canonical SPDI:: NC_000015.10:55342821:T:C
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.55342822T>C, NC_000015.9:g.55635020T>C

Select item 149042537318.

rs1490425373 has merged into rs1267716538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 15:55326207 (GRCh38)
15:55618405 (GRCh37)
Canonical SPDI:: NC_000015.10:55326197:AAAAAAAAAAA:AAAAAAAAA,NC_000015.10:55326197:AAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:55326197:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00022/4 (ALFA)
A=0.00011/3 (TOMMO)
HGVS:: NC_000015.10:g.55326207_55326208del, NC_000015.10:g.55326208del, NC_000015.10:g.55326208dup, NC_000015.9:g.55618405_55618406del, NC_000015.9:g.55618406del, NC_000015.9:g.55618406dup

Select item 149028475219.

rs1490284752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55349182 (GRCh38)
15:55641380 (GRCh37)
Canonical SPDI:: NC_000015.10:55349181:C:T
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55349182C>T, NC_000015.9:g.55641380C>T

Select item 149025961120.

rs1490259611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:55325751 (GRCh38)
15:55617949 (GRCh37)
Canonical SPDI:: NC_000015.10:55325750:C:G
Gene:: PIGB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55325751C>G, NC_000015.9:g.55617949C>G

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