SNP Links for Gene (Select 57115) - SNP

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Select item 14915124851.

rs1491512485 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:153336370 (GRCh38)
1:153308847 (GRCh37)
Canonical SPDI:: NC_000001.11:153336370:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAA
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.153336371_153336388A[18]CAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.153308847_153308864A[18]CAAAAAAAAAAAAAAAAAA[1]

Select item 14913952182.

rs1491395218 has merged into rs71093276 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 1:153350648 (GRCh38)
1:153323124 (GRCh37)
Canonical SPDI:: NC_000001.11:153350645:AAAAAA:AA,NC_000001.11:153350645:AAAAAA:AAA,NC_000001.11:153350645:AAAAAA:AAAA,NC_000001.11:153350645:AAAAAA:AAAAA,NC_000001.11:153350645:AAAAAA:AAAAAAA
Gene:: PGLYRP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.04351/450 (TOMMO)
-=0.075/3 (GENOME_DK)
-=0.08907/44 (NorthernSweden)
HGVS:: NC_000001.11:g.153350648_153350651del, NC_000001.11:g.153350649_153350651del, NC_000001.11:g.153350650_153350651del, NC_000001.11:g.153350651del, NC_000001.11:g.153350651dup, NC_000001.10:g.153323124_153323127del, NC_000001.10:g.153323125_153323127del, NC_000001.10:g.153323126_153323127del, NC_000001.10:g.153323127del, NC_000001.10:g.153323127dup

Select item 14913866213.

rs1491386621 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAGAAAGAAAGAAA,AAAAAGAAAGAAAGAAAGAAA,AAAAC,AAAGA,AGAAA [Show Flanks]
Chromosome:: 1:153350632 (GRCh38)
1:153323109 (GRCh37)
Canonical SPDI:: NC_000001.11:153350632::A,NC_000001.11:153350632::AA,NC_000001.11:153350632::AAA,NC_000001.11:153350632::AAAA,NC_000001.11:153350632::AAAAA,NC_000001.11:153350632::AAAAAA,NC_000001.11:153350632::AAAAAGAAAGAAAGAAA,NC_000001.11:153350632::AAAAAGAAAGAAAGAAAGAAA,NC_000001.11:153350632::AAAAC,NC_000001.11:153350632::AAAGA,NC_000001.11:153350632::AGAAA
Gene:: PGLYRP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.153350632_153350633insA, NC_000001.11:g.153350632_153350633insAA, NC_000001.11:g.153350632_153350633insAAA, NC_000001.11:g.153350632_153350633insAAAA, NC_000001.11:g.153350632_153350633insAAAAA, NC_000001.11:g.153350632_153350633insAAAAAA, NC_000001.11:g.153350632_153350633insAAAAAGAAAGAAAGAAA, NC_000001.11:g.153350632_153350633insAAAAAGAAAGAAAGAAAGAAA, NC_000001.11:g.153350632_153350633insAAAAC, NC_000001.11:g.153350632_153350633insAAAGA, NC_000001.11:g.153350632_153350633insAGAAA, NC_000001.10:g.153323108_153323109insA, NC_000001.10:g.153323108_153323109insAA, NC_000001.10:g.153323108_153323109insAAA, NC_000001.10:g.153323108_153323109insAAAA, NC_000001.10:g.153323108_153323109insAAAAA, NC_000001.10:g.153323108_153323109insAAAAAA, NC_000001.10:g.153323108_153323109insAAAAAGAAAGAAAGAAA, NC_000001.10:g.153323108_153323109insAAAAAGAAAGAAAGAAAGAAA, NC_000001.10:g.153323108_153323109insAAAAC, NC_000001.10:g.153323108_153323109insAAAGA, NC_000001.10:g.153323108_153323109insAGAAA

Select item 14912982714.

rs1491298271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:153334468 (GRCh38)
1:153306944 (GRCh37)
Canonical SPDI:: NC_000001.11:153334466:TTT:T
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.153334468_153334469del, NC_000001.10:g.153306944_153306945del

Select item 14912814855.

rs1491281485 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GAAAGAA [Show Flanks]
Chromosome:: 1:153350646 (GRCh38)
1:153323123 (GRCh37)
Canonical SPDI:: NC_000001.11:153350646:AA:AAGAA,NC_000001.11:153350646:AA:AAGAAAGAA
Gene:: PGLYRP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.153350648_153350649insGAA, NC_000001.11:g.153350647_153350648AAGA[2]A[1], NC_000001.10:g.153323124_153323125insGAA, NC_000001.10:g.153323123_153323124AAGA[2]A[1]

Select item 14912535776.

rs1491253577 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAATATATATATATATATAAAA,G [Show Flanks]
Chromosome:: 1:153334463 (GRCh38)
1:153306940 (GRCh37)
Canonical SPDI:: NC_000001.11:153334463::A,NC_000001.11:153334463::AAATATATATATATATATAAAA,NC_000001.11:153334463::G
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01466/222 (ALFA)
G=0./0 (Korea1K)
A=0.05167/31 (NorthernSweden)
HGVS:: NC_000001.11:g.153334463_153334464insA, NC_000001.11:g.153334463_153334464insAAATATATATATATATATAAAA, NC_000001.11:g.153334463_153334464insG, NC_000001.10:g.153306939_153306940insA, NC_000001.10:g.153306939_153306940insAAATATATATATATATATAAAA, NC_000001.10:g.153306939_153306940insG

Select item 14912419067.

rs1491241906 has merged into rs58665160 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:153336380 (GRCh38)
1:153308856 (GRCh37)
Canonical SPDI:: NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153336369:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.153336380_153336392del, NC_000001.11:g.153336381_153336392del, NC_000001.11:g.153336382_153336392del, NC_000001.11:g.153336383_153336392del, NC_000001.11:g.153336384_153336392del, NC_000001.11:g.153336385_153336392del, NC_000001.11:g.153336386_153336392del, NC_000001.11:g.153336387_153336392del, NC_000001.11:g.153336388_153336392del, NC_000001.11:g.153336389_153336392del, NC_000001.11:g.153336390_153336392del, NC_000001.11:g.153336391_153336392del, NC_000001.11:g.153336392del, NC_000001.11:g.153336392dup, NC_000001.11:g.153336391_153336392dup, NC_000001.11:g.153336390_153336392dup, NC_000001.11:g.153336389_153336392dup, NC_000001.11:g.153336388_153336392dup, NC_000001.11:g.153336387_153336392dup, NC_000001.11:g.153336386_153336392dup, NC_000001.11:g.153336385_153336392dup, NC_000001.11:g.153336384_153336392dup, NC_000001.11:g.153336383_153336392dup, NC_000001.11:g.153336382_153336392dup, NC_000001.11:g.153336381_153336392dup, NC_000001.11:g.153336380_153336392dup, NC_000001.11:g.153336378_153336392dup, NC_000001.11:g.153336377_153336392dup, NC_000001.11:g.153336376_153336392dup, NC_000001.11:g.153336374_153336392dup, NC_000001.11:g.153336373_153336392dup, NC_000001.11:g.153336372_153336392dup, NC_000001.11:g.153336371_153336392dup, NC_000001.11:g.153336370_153336392dup, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336392_153336393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.153336370_153336392A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.153336370_153336392A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.153308856_153308868del, NC_000001.10:g.153308857_153308868del, NC_000001.10:g.153308858_153308868del, NC_000001.10:g.153308859_153308868del, NC_000001.10:g.153308860_153308868del, NC_000001.10:g.153308861_153308868del, NC_000001.10:g.153308862_153308868del, NC_000001.10:g.153308863_153308868del, NC_000001.10:g.153308864_153308868del, NC_000001.10:g.153308865_153308868del, NC_000001.10:g.153308866_153308868del, NC_000001.10:g.153308867_153308868del, NC_000001.10:g.153308868del, NC_000001.10:g.153308868dup, NC_000001.10:g.153308867_153308868dup, NC_000001.10:g.153308866_153308868dup, NC_000001.10:g.153308865_153308868dup, NC_000001.10:g.153308864_153308868dup, NC_000001.10:g.153308863_153308868dup, NC_000001.10:g.153308862_153308868dup, NC_000001.10:g.153308861_153308868dup, NC_000001.10:g.153308860_153308868dup, NC_000001.10:g.153308859_153308868dup, NC_000001.10:g.153308858_153308868dup, NC_000001.10:g.153308857_153308868dup, NC_000001.10:g.153308856_153308868dup, NC_000001.10:g.153308854_153308868dup, NC_000001.10:g.153308853_153308868dup, NC_000001.10:g.153308852_153308868dup, NC_000001.10:g.153308850_153308868dup, NC_000001.10:g.153308849_153308868dup, NC_000001.10:g.153308848_153308868dup, NC_000001.10:g.153308847_153308868dup, NC_000001.10:g.153308846_153308868dup, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308868_153308869insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153308846_153308868A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.153308846_153308868A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912331028.

rs1491233102 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:153350632 (GRCh38)
1:153323108 (GRCh37)
Canonical SPDI:: NC_000001.11:153350631:GG:
Gene:: PGLYRP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0001/3 (GnomAD)
HGVS:: NC_000001.11:g.153350632_153350633del, NC_000001.10:g.153323108_153323109del

Select item 14911742529.

rs1491174252 has merged into rs1218461161 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:153334464 (GRCh38)
1:153306940 (GRCh37)
Canonical SPDI:: NC_000001.11:153334462:TTT:T,NC_000001.11:153334462:TTT:TTTTT
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
-=0.000034/4 (GnomAD)
HGVS:: NC_000001.11:g.153334464_153334465del, NC_000001.11:g.153334464_153334465dup, NC_000001.10:g.153306940_153306941del, NC_000001.10:g.153306940_153306941dup

Select item 149098868710.

rs1490988687 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGAAA>- [Show Flanks]
Chromosome:: 1:153350649 (GRCh38)
1:153323125 (GRCh37)
Canonical SPDI:: NC_000001.11:153350641:AAAGAAAAAAGAAA:AAAGAAA
Gene:: PGLYRP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAAAAGAAA=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.153350642AAAGAAA[1], NC_000001.10:g.153323118AAAGAAA[1]

Select item 149025817211.

rs1490258172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153335472 (GRCh38)
1:153307948 (GRCh37)
Canonical SPDI:: NC_000001.11:153335471:A:G
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153335472A>G, NC_000001.10:g.153307948A>G

Select item 149024235912.

rs1490242359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153349557 (GRCh38)
1:153322033 (GRCh37)
Canonical SPDI:: NC_000001.11:153349556:G:A
Gene:: PGLYRP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.153349557G>A, NC_000001.10:g.153322033G>A

Select item 149018676813.

rs1490186768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153336173 (GRCh38)
1:153308649 (GRCh37)
Canonical SPDI:: NC_000001.11:153336172:C:G
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153336173C>G, NC_000001.10:g.153308649C>G

Select item 149016943614.

rs1490169436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153350448 (GRCh38)
1:153322924 (GRCh37)
Canonical SPDI:: NC_000001.11:153350447:G:A
Gene:: PGLYRP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.153350448G>A, NC_000001.10:g.153322924G>A

Select item 149006877915.

rs1490068779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153337215 (GRCh38)
1:153309691 (GRCh37)
Canonical SPDI:: NC_000001.11:153337214:A:G
Gene:: PGLYRP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153337215A>G, NC_000001.10:g.153309691A>G, NM_020393.4:c.909T>C, NM_020393.3:c.909T>C, NM_020393.2:c.909T>C, XM_011509789.3:c.909T>C, XM_011509789.2:c.909T>C, XM_011509789.1:c.909T>C, XM_011509791.3:c.897T>C, XM_011509791.2:c.897T>C, XM_011509791.1:c.897T>C, XR_921897.3:n.1269T>C, XR_921897.2:n.1269T>C, XR_921897.1:n.1269T>C, XM_011509793.2:c.405T>C, XM_011509793.1:c.405T>C, XR_007062001.1:n.1269T>C, XM_011509792.1:c.909T>C, XM_011509790.1:c.909T>C

Select item 148999229316.

rs1489992293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:153328747 (GRCh38)
1:153301223 (GRCh37)
Canonical SPDI:: NC_000001.11:153328746:T:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.153328747T>A, NC_000001.10:g.153301223T>A

Select item 148997914417.

rs1489979144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:153343223 (GRCh38)
1:153315699 (GRCh37)
Canonical SPDI:: NC_000001.11:153343222:A:C
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153343223A>C, NC_000001.10:g.153315699A>C

Select item 148995384018.

rs1489953840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:153344293 (GRCh38)
1:153316769 (GRCh37)
Canonical SPDI:: NC_000001.11:153344292:A:T
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000064/17 (TOPMED)
HGVS:: NC_000001.11:g.153344293A>T, NC_000001.10:g.153316769A>T

Select item 148991716719.

rs1489917167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153346549 (GRCh38)
1:153319025 (GRCh37)
Canonical SPDI:: NC_000001.11:153346548:G:A
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000121/17 (GnomAD)
HGVS:: NC_000001.11:g.153346549G>A, NC_000001.10:g.153319025G>A

Select item 148974545120.

rs1489745451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153335799 (GRCh38)
1:153308275 (GRCh37)
Canonical SPDI:: NC_000001.11:153335798:C:T
Gene:: PGLYRP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153335799C>T, NC_000001.10:g.153308275C>T

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