SNP Links for Gene (Select 267002) - SNP

Links from Gene

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Select item 14915296341.

rs1491529634 has merged into rs35383461 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:248908696 (GRCh38)
1:249202895 (GRCh37)
Canonical SPDI:: NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:248908684:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
T=0.4804/2406 (1000Genomes)
HGVS:: NC_000001.11:g.248908696_248908698del, NC_000001.11:g.248908697_248908698del, NC_000001.11:g.248908698del, NC_000001.11:g.248908698dup, NC_000001.11:g.248908697_248908698dup, NC_000001.11:g.248908696_248908698dup, NC_000001.11:g.248908686_248908698dup, NC_000001.10:g.249202895_249202897del, NC_000001.10:g.249202896_249202897del, NC_000001.10:g.249202897del, NC_000001.10:g.249202897dup, NC_000001.10:g.249202896_249202897dup, NC_000001.10:g.249202895_249202897dup, NC_000001.10:g.249202885_249202897dup

Select item 14914513972.

rs1491451397 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:248908685 (GRCh38)
1:249202885 (GRCh37)
Canonical SPDI:: NC_000001.11:248908685::A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000056/1 (GnomAD)
HGVS:: NC_000001.11:g.248908685_248908686insA, NC_000001.10:g.249202884_249202885insA

Select item 14912796533.

rs1491279653 has merged into rs374939221 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:248875329 (GRCh38)
1:249169528 (GRCh37)
Canonical SPDI:: NC_000001.11:248875328:G:
Gene:: PGBD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000096/12 (GnomAD)
-=0.001194/20 (TOMMO)
HGVS:: NC_000001.11:g.248875329del, NC_000001.10:g.249169528del

Select item 14912740044.

rs1491274004 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:248875333 (GRCh38)
1:249169533 (GRCh37)
Canonical SPDI:: NC_000001.11:248875333:G:GG
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248875334dup, NC_000001.10:g.249169533dup

Select item 14911903585.

rs1491190358 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:248875334 (GRCh38)
1:249169533 (GRCh37)
Canonical SPDI:: NC_000001.11:248875332:AGA:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00012/2 (TOMMO)
HGVS:: NC_000001.11:g.248875334_248875335del, NC_000001.10:g.249169533_249169534del

Select item 14911855386.

rs1491185538 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:248899794 (GRCh38)
1:249193993 (GRCh37)
Canonical SPDI:: NC_000001.11:248899793:TG:
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.248899794_248899795del, NC_000001.10:g.249193993_249193994del

Select item 14910655547.

rs1491065554 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:248894713 (GRCh38)
1:249188912 (GRCh37)
Canonical SPDI:: NC_000001.11:248894712:GC:
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.248894713_248894714del, NC_000001.10:g.249188912_249188913del

Select item 14910422338.

rs1491042233 has merged into rs57499738 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:248900109 (GRCh38)
1:249194308 (GRCh37)
Canonical SPDI:: NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248900097:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
AAAAA=0.006969/4 (NorthernSweden)
HGVS:: NC_000001.11:g.248900109_248900116del, NC_000001.11:g.248900110_248900116del, NC_000001.11:g.248900111_248900116del, NC_000001.11:g.248900112_248900116del, NC_000001.11:g.248900113_248900116del, NC_000001.11:g.248900114_248900116del, NC_000001.11:g.248900115_248900116del, NC_000001.11:g.248900116del, NC_000001.11:g.248900116dup, NC_000001.11:g.248900115_248900116dup, NC_000001.11:g.248900114_248900116dup, NC_000001.11:g.248900113_248900116dup, NC_000001.11:g.248900112_248900116dup, NC_000001.11:g.248900111_248900116dup, NC_000001.11:g.248900110_248900116dup, NC_000001.11:g.248900109_248900116dup, NC_000001.10:g.249194308_249194315del, NC_000001.10:g.249194309_249194315del, NC_000001.10:g.249194310_249194315del, NC_000001.10:g.249194311_249194315del, NC_000001.10:g.249194312_249194315del, NC_000001.10:g.249194313_249194315del, NC_000001.10:g.249194314_249194315del, NC_000001.10:g.249194315del, NC_000001.10:g.249194315dup, NC_000001.10:g.249194314_249194315dup, NC_000001.10:g.249194313_249194315dup, NC_000001.10:g.249194312_249194315dup, NC_000001.10:g.249194311_249194315dup, NC_000001.10:g.249194310_249194315dup, NC_000001.10:g.249194309_249194315dup, NC_000001.10:g.249194308_249194315dup

Select item 14910117459.

rs1491011745 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:248875329 (GRCh38)
1:249169528 (GRCh37)
Canonical SPDI:: NC_000001.11:248875327:AGA:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.248875329_248875330del, NC_000001.10:g.249169528_249169529del

Select item 149099806510.

rs1490998065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:248881661 (GRCh38)
1:249175860 (GRCh37)
Canonical SPDI:: NC_000001.11:248881660:T:G
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248881661T>G, NC_000001.10:g.249175860T>G

Select item 149088522811.

rs1490885228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248913840 (GRCh38)
1:249208039 (GRCh37)
Canonical SPDI:: NC_000001.11:248913839:C:T
Gene:: PGBD2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.248913840C>T, NC_000001.10:g.249208039C>T, XM_011544161.4:c.-23C>T, XM_011544161.3:c.-23C>T, XM_011544161.2:c.-23C>T, XM_011544161.1:c.-23C>T, XM_011544159.3:c.-23C>T, XM_011544159.2:c.-23C>T, XM_011544159.1:c.-23C>T, NM_170725.3:c.-23C>T, NM_170725.2:c.-23C>T, NM_001017434.2:c.-99C>T, NM_001017434.1:c.-99C>T, XM_047417844.1:c.-99C>T, XM_047417849.1:c.-23C>T, XM_047417845.1:c.-23C>T

Select item 149060967412.

rs1490609674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248876644 (GRCh38)
1:249170843 (GRCh37)
Canonical SPDI:: NC_000001.11:248876643:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.248876644G>A, NC_000001.10:g.249170843G>A

Select item 149052933113.

rs1490529331 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:248896297 (GRCh38)
1:249190496 (GRCh37)
Canonical SPDI:: NC_000001.11:248896296:A:
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000001.11:g.248896297del, NC_000001.10:g.249190496del

Select item 149051856314.

rs1490518563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248908082 (GRCh38)
1:249202281 (GRCh37)
Canonical SPDI:: NC_000001.11:248908081:A:G
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.248908082A>G, NC_000001.10:g.249202281A>G

Select item 149048368415.

rs1490483684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248889883 (GRCh38)
1:249184082 (GRCh37)
Canonical SPDI:: NC_000001.11:248889882:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248889883G>A, NC_000001.10:g.249184082G>A, NG_066139.1:g.565G>A

Select item 149042494816.

rs1490424948 has merged into rs145015142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:248875316 (GRCh38)
1:249169515 (GRCh37)
Canonical SPDI:: NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248875308:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGBD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.248875316_248875328del, NC_000001.11:g.248875317_248875328del, NC_000001.11:g.248875318_248875328del, NC_000001.11:g.248875319_248875328del, NC_000001.11:g.248875320_248875328del, NC_000001.11:g.248875321_248875328del, NC_000001.11:g.248875322_248875328del, NC_000001.11:g.248875323_248875328del, NC_000001.11:g.248875324_248875328del, NC_000001.11:g.248875325_248875328del, NC_000001.11:g.248875326_248875328del, NC_000001.11:g.248875327_248875328del, NC_000001.11:g.248875328del, NC_000001.11:g.248875328dup, NC_000001.11:g.248875327_248875328dup, NC_000001.11:g.248875326_248875328dup, NC_000001.11:g.248875325_248875328dup, NC_000001.11:g.248875324_248875328dup, NC_000001.11:g.248875323_248875328dup, NC_000001.11:g.248875322_248875328dup, NC_000001.11:g.248875321_248875328dup, NC_000001.11:g.248875320_248875328dup, NC_000001.11:g.248875319_248875328dup, NC_000001.11:g.248875318_248875328dup, NC_000001.11:g.248875317_248875328dup, NC_000001.11:g.248875316_248875328dup, NC_000001.11:g.248875315_248875328dup, NC_000001.11:g.248875314_248875328dup, NC_000001.11:g.248875313_248875328dup, NC_000001.11:g.248875312_248875328dup, NC_000001.11:g.248875311_248875328dup, NC_000001.11:g.248875310_248875328dup, NC_000001.11:g.248875309_248875328dup, NC_000001.11:g.248875328_248875329insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.248875328_248875329insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.248875328_248875329insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.248875328_248875329insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.248875328_248875329insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.248875328_248875329insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.248875309_248875328A[20]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.249169515_249169527del, NC_000001.10:g.249169516_249169527del, NC_000001.10:g.249169517_249169527del, NC_000001.10:g.249169518_249169527del, NC_000001.10:g.249169519_249169527del, NC_000001.10:g.249169520_249169527del, NC_000001.10:g.249169521_249169527del, NC_000001.10:g.249169522_249169527del, NC_000001.10:g.249169523_249169527del, NC_000001.10:g.249169524_249169527del, NC_000001.10:g.249169525_249169527del, NC_000001.10:g.249169526_249169527del, NC_000001.10:g.249169527del, NC_000001.10:g.249169527dup, NC_000001.10:g.249169526_249169527dup, NC_000001.10:g.249169525_249169527dup, NC_000001.10:g.249169524_249169527dup, NC_000001.10:g.249169523_249169527dup, NC_000001.10:g.249169522_249169527dup, NC_000001.10:g.249169521_249169527dup, NC_000001.10:g.249169520_249169527dup, NC_000001.10:g.249169519_249169527dup, NC_000001.10:g.249169518_249169527dup, NC_000001.10:g.249169517_249169527dup, NC_000001.10:g.249169516_249169527dup, NC_000001.10:g.249169515_249169527dup, NC_000001.10:g.249169514_249169527dup, NC_000001.10:g.249169513_249169527dup, NC_000001.10:g.249169512_249169527dup, NC_000001.10:g.249169511_249169527dup, NC_000001.10:g.249169510_249169527dup, NC_000001.10:g.249169509_249169527dup, NC_000001.10:g.249169508_249169527dup, NC_000001.10:g.249169527_249169528insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.249169527_249169528insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.249169527_249169528insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.249169527_249169528insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.249169527_249169528insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.249169527_249169528insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.249169508_249169527A[20]CAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149038271617.

rs1490382716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:248908024 (GRCh38)
1:249202223 (GRCh37)
Canonical SPDI:: NC_000001.11:248908023:A:T
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248908024A>T, NC_000001.10:g.249202223A>T

Select item 149035620918.

rs1490356209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248888992 (GRCh38)
1:249183191 (GRCh37)
Canonical SPDI:: NC_000001.11:248888991:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.248888992G>A, NC_000001.10:g.249183191G>A

Select item 149033921819.

rs1490339218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248909509 (GRCh38)
1:249203708 (GRCh37)
Canonical SPDI:: NC_000001.11:248909508:C:T
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248909509C>T, NC_000001.10:g.249203708C>T

Select item 149023598120.

rs1490235981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248896191 (GRCh38)
1:249190390 (GRCh37)
Canonical SPDI:: NC_000001.11:248896190:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.248896191G>A, NC_000001.10:g.249190390G>A

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dbSNP

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Function Class

Variation Class

Annotation

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