SNP Links for Nucleotide (Select 585757349) - SNP

Links from Nucleotide

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Select item 14915813101.

rs1491581310 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:5236849 (GRCh38)
19:5236860 (GRCh37)
Canonical SPDI:: NC_000019.10:5236848:GA:
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000019.10:g.5236849_5236850del, NC_000019.9:g.5236860_5236861del, NG_033964.1:g.108954_108955del

Select item 14915786202.

rs1491578620 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:5300767 (GRCh38)
19:5300778 (GRCh37)
Canonical SPDI:: NC_000019.10:5300766:CA:
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.5300767_5300768del, NC_000019.9:g.5300778_5300779del, NG_033964.1:g.45036_45037del

Select item 14915610863.

rs1491561086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:5220692 (GRCh38)
19:5220704 (GRCh37)
Canonical SPDI:: NC_000019.10:5220692:T:TT
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.5220693dup, NC_000019.9:g.5220704dup, NG_033964.1:g.125111dup

Select item 14915483074.

rs1491548307 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:5216811 (GRCh38)
19:5216822 (GRCh37)
Canonical SPDI:: NC_000019.10:5216810:AG:
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000013/2 (GnomAD_exomes)
-=0.000539/2 (TWINSUK)
-=0.000778/3 (ALSPAC)
HGVS:: NC_000019.10:g.5216811_5216812del, NC_000019.9:g.5216822_5216823del, NG_033964.1:g.128992_128993del

Select item 14915387605.

rs1491538760 has merged into rs56215560 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:5252585 (GRCh38)
19:5252596 (GRCh37)
Canonical SPDI:: NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5252574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.5252585_5252597del, NC_000019.10:g.5252586_5252597del, NC_000019.10:g.5252587_5252597del, NC_000019.10:g.5252588_5252597del, NC_000019.10:g.5252589_5252597del, NC_000019.10:g.5252590_5252597del, NC_000019.10:g.5252591_5252597del, NC_000019.10:g.5252592_5252597del, NC_000019.10:g.5252593_5252597del, NC_000019.10:g.5252594_5252597del, NC_000019.10:g.5252595_5252597del, NC_000019.10:g.5252596_5252597del, NC_000019.10:g.5252597del, NC_000019.10:g.5252597dup, NC_000019.10:g.5252596_5252597dup, NC_000019.10:g.5252595_5252597dup, NC_000019.10:g.5252594_5252597dup, NC_000019.10:g.5252593_5252597dup, NC_000019.9:g.5252596_5252608del, NC_000019.9:g.5252597_5252608del, NC_000019.9:g.5252598_5252608del, NC_000019.9:g.5252599_5252608del, NC_000019.9:g.5252600_5252608del, NC_000019.9:g.5252601_5252608del, NC_000019.9:g.5252602_5252608del, NC_000019.9:g.5252603_5252608del, NC_000019.9:g.5252604_5252608del, NC_000019.9:g.5252605_5252608del, NC_000019.9:g.5252606_5252608del, NC_000019.9:g.5252607_5252608del, NC_000019.9:g.5252608del, NC_000019.9:g.5252608dup, NC_000019.9:g.5252607_5252608dup, NC_000019.9:g.5252606_5252608dup, NC_000019.9:g.5252605_5252608dup, NC_000019.9:g.5252604_5252608dup, NG_033964.1:g.93217_93229del, NG_033964.1:g.93218_93229del, NG_033964.1:g.93219_93229del, NG_033964.1:g.93220_93229del, NG_033964.1:g.93221_93229del, NG_033964.1:g.93222_93229del, NG_033964.1:g.93223_93229del, NG_033964.1:g.93224_93229del, NG_033964.1:g.93225_93229del, NG_033964.1:g.93226_93229del, NG_033964.1:g.93227_93229del, NG_033964.1:g.93228_93229del, NG_033964.1:g.93229del, NG_033964.1:g.93229dup, NG_033964.1:g.93228_93229dup, NG_033964.1:g.93227_93229dup, NG_033964.1:g.93226_93229dup, NG_033964.1:g.93225_93229dup

Select item 14915133496.

rs1491513349 has merged into rs55762769 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:5227425 (GRCh38)
19:5227436 (GRCh37)
Canonical SPDI:: NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:5227413:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.2474/1239 (1000Genomes)
HGVS:: NC_000019.10:g.5227425_5227430del, NC_000019.10:g.5227426_5227430del, NC_000019.10:g.5227427_5227430del, NC_000019.10:g.5227428_5227430del, NC_000019.10:g.5227429_5227430del, NC_000019.10:g.5227430del, NC_000019.10:g.5227430dup, NC_000019.10:g.5227422_5227430dup, NC_000019.9:g.5227436_5227441del, NC_000019.9:g.5227437_5227441del, NC_000019.9:g.5227438_5227441del, NC_000019.9:g.5227439_5227441del, NC_000019.9:g.5227440_5227441del, NC_000019.9:g.5227441del, NC_000019.9:g.5227441dup, NC_000019.9:g.5227433_5227441dup, NG_033964.1:g.118385_118390del, NG_033964.1:g.118386_118390del, NG_033964.1:g.118387_118390del, NG_033964.1:g.118388_118390del, NG_033964.1:g.118389_118390del, NG_033964.1:g.118390del, NG_033964.1:g.118390dup, NG_033964.1:g.118382_118390dup

Select item 14915026027.

rs1491502602 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAGAAAAAAA,TAA,TAAAAAAAAAA [Show Flanks]
Chromosome:: 19:5228345 (GRCh38)
19:5228357 (GRCh37)
Canonical SPDI:: NC_000019.10:5228345:A:AA,NC_000019.10:5228345:A:AAA,NC_000019.10:5228345:A:AAAA,NC_000019.10:5228345:A:AAAAA,NC_000019.10:5228345:A:AAAAAA,NC_000019.10:5228345:A:AAAAAAA,NC_000019.10:5228345:A:AAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5228345:A:AAAAAGAAAAAAA,NC_000019.10:5228345:A:ATAA,NC_000019.10:5228345:A:ATAAAAAAAAAA
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.00013/2 (TOMMO)
AAA=0.02616/97 (TWINSUK)
AAA=0.0314/121 (ALSPAC)
HGVS:: NC_000019.10:g.5228346dup, NC_000019.10:g.5228346_5228347insAA, NC_000019.10:g.5228346_5228347insAAA, NC_000019.10:g.5228346_5228347insAAAA, NC_000019.10:g.5228346_5228347insAAAAA, NC_000019.10:g.5228346_5228347insAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346_5228347insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5228346A[5]GAAAAAAA[1], NC_000019.10:g.5228346_5228347insTAA, NC_000019.10:g.5228346_5228347insTAAAAAAAAAA, NC_000019.9:g.5228357dup, NC_000019.9:g.5228357_5228358insAA, NC_000019.9:g.5228357_5228358insAAA, NC_000019.9:g.5228357_5228358insAAAA, NC_000019.9:g.5228357_5228358insAAAAA, NC_000019.9:g.5228357_5228358insAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357_5228358insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5228357A[5]GAAAAAAA[1], NC_000019.9:g.5228357_5228358insTAA, NC_000019.9:g.5228357_5228358insTAAAAAAAAAA, NG_033964.1:g.117458dup, NG_033964.1:g.117458_117459insTT, NG_033964.1:g.117458_117459insTTT, NG_033964.1:g.117458_117459insTTTT, NG_033964.1:g.117458_117459insTTTTT, NG_033964.1:g.117458_117459insTTTTTT, NG_033964.1:g.117458_117459insTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458_117459insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.117458T[7]CTTTTT[1], NG_033964.1:g.117458_117459insTAT, NG_033964.1:g.117458T[10]AT[1]

Select item 14914863848.

rs1491486384 has merged into rs61244607 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:5302908 (GRCh38)
19:5302919 (GRCh37)
Canonical SPDI:: NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5302901:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000019.10:g.5302908_5302920del, NC_000019.10:g.5302909_5302920del, NC_000019.10:g.5302913_5302920del, NC_000019.10:g.5302914_5302920del, NC_000019.10:g.5302915_5302920del, NC_000019.10:g.5302917_5302920del, NC_000019.10:g.5302918_5302920del, NC_000019.10:g.5302919_5302920del, NC_000019.10:g.5302920del, NC_000019.10:g.5302920dup, NC_000019.10:g.5302919_5302920dup, NC_000019.10:g.5302918_5302920dup, NC_000019.10:g.5302917_5302920dup, NC_000019.10:g.5302916_5302920dup, NC_000019.10:g.5302915_5302920dup, NC_000019.10:g.5302913_5302920dup, NC_000019.10:g.5302912_5302920dup, NC_000019.10:g.5302911_5302920dup, NC_000019.10:g.5302910_5302920dup, NC_000019.10:g.5302909_5302920dup, NC_000019.10:g.5302908_5302920dup, NC_000019.9:g.5302919_5302931del, NC_000019.9:g.5302920_5302931del, NC_000019.9:g.5302924_5302931del, NC_000019.9:g.5302925_5302931del, NC_000019.9:g.5302926_5302931del, NC_000019.9:g.5302928_5302931del, NC_000019.9:g.5302929_5302931del, NC_000019.9:g.5302930_5302931del, NC_000019.9:g.5302931del, NC_000019.9:g.5302931dup, NC_000019.9:g.5302930_5302931dup, NC_000019.9:g.5302929_5302931dup, NC_000019.9:g.5302928_5302931dup, NC_000019.9:g.5302927_5302931dup, NC_000019.9:g.5302926_5302931dup, NC_000019.9:g.5302924_5302931dup, NC_000019.9:g.5302923_5302931dup, NC_000019.9:g.5302922_5302931dup, NC_000019.9:g.5302921_5302931dup, NC_000019.9:g.5302920_5302931dup, NC_000019.9:g.5302919_5302931dup, NG_033964.1:g.42890_42902del, NG_033964.1:g.42891_42902del, NG_033964.1:g.42895_42902del, NG_033964.1:g.42896_42902del, NG_033964.1:g.42897_42902del, NG_033964.1:g.42899_42902del, NG_033964.1:g.42900_42902del, NG_033964.1:g.42901_42902del, NG_033964.1:g.42902del, NG_033964.1:g.42902dup, NG_033964.1:g.42901_42902dup, NG_033964.1:g.42900_42902dup, NG_033964.1:g.42899_42902dup, NG_033964.1:g.42898_42902dup, NG_033964.1:g.42897_42902dup, NG_033964.1:g.42895_42902dup, NG_033964.1:g.42894_42902dup, NG_033964.1:g.42893_42902dup, NG_033964.1:g.42892_42902dup, NG_033964.1:g.42891_42902dup, NG_033964.1:g.42890_42902dup

Select item 14914855089.

rs1491485508 has merged into rs35165317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:5305952 (GRCh38)
19:5305963 (GRCh37)
Canonical SPDI:: NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5305939:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000019.10:g.5305952_5305970del, NC_000019.10:g.5305953_5305970del, NC_000019.10:g.5305954_5305970del, NC_000019.10:g.5305955_5305970del, NC_000019.10:g.5305956_5305970del, NC_000019.10:g.5305957_5305970del, NC_000019.10:g.5305958_5305970del, NC_000019.10:g.5305959_5305970del, NC_000019.10:g.5305960_5305970del, NC_000019.10:g.5305961_5305970del, NC_000019.10:g.5305962_5305970del, NC_000019.10:g.5305963_5305970del, NC_000019.10:g.5305964_5305970del, NC_000019.10:g.5305965_5305970del, NC_000019.10:g.5305966_5305970del, NC_000019.10:g.5305967_5305970del, NC_000019.10:g.5305968_5305970del, NC_000019.10:g.5305969_5305970del, NC_000019.10:g.5305970del, NC_000019.10:g.5305970dup, NC_000019.10:g.5305969_5305970dup, NC_000019.10:g.5305968_5305970dup, NC_000019.10:g.5305967_5305970dup, NC_000019.10:g.5305966_5305970dup, NC_000019.10:g.5305965_5305970dup, NC_000019.10:g.5305964_5305970dup, NC_000019.10:g.5305963_5305970dup, NC_000019.10:g.5305962_5305970dup, NC_000019.10:g.5305961_5305970dup, NC_000019.10:g.5305960_5305970dup, NC_000019.10:g.5305957_5305970dup, NC_000019.10:g.5305956_5305970dup, NC_000019.10:g.5305955_5305970dup, NC_000019.10:g.5305954_5305970dup, NC_000019.10:g.5305953_5305970dup, NC_000019.10:g.5305951_5305970dup, NC_000019.10:g.5305947_5305970dup, NC_000019.9:g.5305963_5305981del, NC_000019.9:g.5305964_5305981del, NC_000019.9:g.5305965_5305981del, NC_000019.9:g.5305966_5305981del, NC_000019.9:g.5305967_5305981del, NC_000019.9:g.5305968_5305981del, NC_000019.9:g.5305969_5305981del, NC_000019.9:g.5305970_5305981del, NC_000019.9:g.5305971_5305981del, NC_000019.9:g.5305972_5305981del, NC_000019.9:g.5305973_5305981del, NC_000019.9:g.5305974_5305981del, NC_000019.9:g.5305975_5305981del, NC_000019.9:g.5305976_5305981del, NC_000019.9:g.5305977_5305981del, NC_000019.9:g.5305978_5305981del, NC_000019.9:g.5305979_5305981del, NC_000019.9:g.5305980_5305981del, NC_000019.9:g.5305981del, NC_000019.9:g.5305981dup, NC_000019.9:g.5305980_5305981dup, NC_000019.9:g.5305979_5305981dup, NC_000019.9:g.5305978_5305981dup, NC_000019.9:g.5305977_5305981dup, NC_000019.9:g.5305976_5305981dup, NC_000019.9:g.5305975_5305981dup, NC_000019.9:g.5305974_5305981dup, NC_000019.9:g.5305973_5305981dup, NC_000019.9:g.5305972_5305981dup, NC_000019.9:g.5305971_5305981dup, NC_000019.9:g.5305968_5305981dup, NC_000019.9:g.5305967_5305981dup, NC_000019.9:g.5305966_5305981dup, NC_000019.9:g.5305965_5305981dup, NC_000019.9:g.5305964_5305981dup, NC_000019.9:g.5305962_5305981dup, NC_000019.9:g.5305958_5305981dup, NG_033964.1:g.39846_39864del, NG_033964.1:g.39847_39864del, NG_033964.1:g.39848_39864del, NG_033964.1:g.39849_39864del, NG_033964.1:g.39850_39864del, NG_033964.1:g.39851_39864del, NG_033964.1:g.39852_39864del, NG_033964.1:g.39853_39864del, NG_033964.1:g.39854_39864del, NG_033964.1:g.39855_39864del, NG_033964.1:g.39856_39864del, NG_033964.1:g.39857_39864del, NG_033964.1:g.39858_39864del, NG_033964.1:g.39859_39864del, NG_033964.1:g.39860_39864del, NG_033964.1:g.39861_39864del, NG_033964.1:g.39862_39864del, NG_033964.1:g.39863_39864del, NG_033964.1:g.39864del, NG_033964.1:g.39864dup, NG_033964.1:g.39863_39864dup, NG_033964.1:g.39862_39864dup, NG_033964.1:g.39861_39864dup, NG_033964.1:g.39860_39864dup, NG_033964.1:g.39859_39864dup, NG_033964.1:g.39858_39864dup, NG_033964.1:g.39857_39864dup, NG_033964.1:g.39856_39864dup, NG_033964.1:g.39855_39864dup, NG_033964.1:g.39854_39864dup, NG_033964.1:g.39851_39864dup, NG_033964.1:g.39850_39864dup, NG_033964.1:g.39849_39864dup, NG_033964.1:g.39848_39864dup, NG_033964.1:g.39847_39864dup, NG_033964.1:g.39845_39864dup, NG_033964.1:g.39841_39864dup

Select item 149146862510.

rs1491468625 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:5251429 (GRCh38)
19:5251440 (GRCh37)
Canonical SPDI:: NC_000019.10:5251428:CT:
Gene:: PTPRS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000674/8 (ALFA)
-=0.001443/382 (TOPMED)
-=0.001528/180 (GnomAD)
-=0.001874/12 (1000Genomes)
HGVS:: NC_000019.10:g.5251429_5251430del, NC_000019.9:g.5251440_5251441del, NG_033964.1:g.94374_94375del

Select item 149146495011.

rs1491464950 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:5252574 (GRCh38)
19:5252585 (GRCh37)
Canonical SPDI:: NC_000019.10:5252573:CA:
Gene:: PTPRS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00152/18 (ALFA)
HGVS:: NC_000019.10:g.5252574_5252575del, NC_000019.9:g.5252585_5252586del, NG_033964.1:g.93229_93230del

Select item 149146431812.

rs1491464318 has merged into rs952833168 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:5315365 (GRCh38)
19:5315376 (GRCh37)
Canonical SPDI:: NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5315351:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.5315365_5315381del, NC_000019.10:g.5315366_5315381del, NC_000019.10:g.5315367_5315381del, NC_000019.10:g.5315368_5315381del, NC_000019.10:g.5315369_5315381del, NC_000019.10:g.5315370_5315381del, NC_000019.10:g.5315371_5315381del, NC_000019.10:g.5315372_5315381del, NC_000019.10:g.5315373_5315381del, NC_000019.10:g.5315374_5315381del, NC_000019.10:g.5315375_5315381del, NC_000019.10:g.5315376_5315381del, NC_000019.10:g.5315377_5315381del, NC_000019.10:g.5315378_5315381del, NC_000019.10:g.5315379_5315381del, NC_000019.10:g.5315381del, NC_000019.10:g.5315381dup, NC_000019.10:g.5315380_5315381dup, NC_000019.10:g.5315379_5315381dup, NC_000019.10:g.5315378_5315381dup, NC_000019.10:g.5315377_5315381dup, NC_000019.10:g.5315376_5315381dup, NC_000019.10:g.5315375_5315381dup, NC_000019.10:g.5315374_5315381dup, NC_000019.10:g.5315373_5315381dup, NC_000019.10:g.5315372_5315381dup, NC_000019.10:g.5315371_5315381dup, NC_000019.10:g.5315369_5315381dup, NC_000019.10:g.5315365_5315381dup, NC_000019.9:g.5315376_5315392del, NC_000019.9:g.5315377_5315392del, NC_000019.9:g.5315378_5315392del, NC_000019.9:g.5315379_5315392del, NC_000019.9:g.5315380_5315392del, NC_000019.9:g.5315381_5315392del, NC_000019.9:g.5315382_5315392del, NC_000019.9:g.5315383_5315392del, NC_000019.9:g.5315384_5315392del, NC_000019.9:g.5315385_5315392del, NC_000019.9:g.5315386_5315392del, NC_000019.9:g.5315387_5315392del, NC_000019.9:g.5315388_5315392del, NC_000019.9:g.5315389_5315392del, NC_000019.9:g.5315390_5315392del, NC_000019.9:g.5315392del, NC_000019.9:g.5315392dup, NC_000019.9:g.5315391_5315392dup, NC_000019.9:g.5315390_5315392dup, NC_000019.9:g.5315389_5315392dup, NC_000019.9:g.5315388_5315392dup, NC_000019.9:g.5315387_5315392dup, NC_000019.9:g.5315386_5315392dup, NC_000019.9:g.5315385_5315392dup, NC_000019.9:g.5315384_5315392dup, NC_000019.9:g.5315383_5315392dup, NC_000019.9:g.5315382_5315392dup, NC_000019.9:g.5315380_5315392dup, NC_000019.9:g.5315376_5315392dup, NG_033964.1:g.30436_30452del, NG_033964.1:g.30437_30452del, NG_033964.1:g.30438_30452del, NG_033964.1:g.30439_30452del, NG_033964.1:g.30440_30452del, NG_033964.1:g.30441_30452del, NG_033964.1:g.30442_30452del, NG_033964.1:g.30443_30452del, NG_033964.1:g.30444_30452del, NG_033964.1:g.30445_30452del, NG_033964.1:g.30446_30452del, NG_033964.1:g.30447_30452del, NG_033964.1:g.30448_30452del, NG_033964.1:g.30449_30452del, NG_033964.1:g.30450_30452del, NG_033964.1:g.30452del, NG_033964.1:g.30452dup, NG_033964.1:g.30451_30452dup, NG_033964.1:g.30450_30452dup, NG_033964.1:g.30449_30452dup, NG_033964.1:g.30448_30452dup, NG_033964.1:g.30447_30452dup, NG_033964.1:g.30446_30452dup, NG_033964.1:g.30445_30452dup, NG_033964.1:g.30444_30452dup, NG_033964.1:g.30443_30452dup, NG_033964.1:g.30442_30452dup, NG_033964.1:g.30440_30452dup, NG_033964.1:g.30436_30452dup

Select item 149146067613.

rs1491460676 has merged into rs113603019 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 19:5336271 (GRCh38)
19:5336282 (GRCh37)
Canonical SPDI:: NC_000019.10:5336263:GGGGGGGGGG:GGGGGGG,NC_000019.10:5336263:GGGGGGGGGG:GGGGGGGG,NC_000019.10:5336263:GGGGGGGGGG:GGGGGGGGG,NC_000019.10:5336263:GGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:5336263:GGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:5336263:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: PTPRS (Varview), LOC105372252 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.11597/430 (TWINSUK)
-=0.11624/448 (ALSPAC)
-=0.14058/704 (1000Genomes)
HGVS:: NC_000019.10:g.5336271_5336273del, NC_000019.10:g.5336272_5336273del, NC_000019.10:g.5336273del, NC_000019.10:g.5336273dup, NC_000019.10:g.5336272_5336273dup, NC_000019.10:g.5336271_5336273dup, NC_000019.9:g.5336282_5336284del, NC_000019.9:g.5336283_5336284del, NC_000019.9:g.5336284del, NC_000019.9:g.5336284dup, NC_000019.9:g.5336283_5336284dup, NC_000019.9:g.5336282_5336284dup, NG_033964.1:g.9538_9540del, NG_033964.1:g.9539_9540del, NG_033964.1:g.9540del, NG_033964.1:g.9540dup, NG_033964.1:g.9539_9540dup, NG_033964.1:g.9538_9540dup

Select item 149144558514.

rs1491445585 has merged into rs144512818 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:5305770 (GRCh38)
19:5305781 (GRCh37)
Canonical SPDI:: NC_000019.10:5305765:TTTTTTTTTT:TTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:5305765:TTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.5305770_5305775del, NC_000019.10:g.5305771_5305775del, NC_000019.10:g.5305772_5305775del, NC_000019.10:g.5305773_5305775del, NC_000019.10:g.5305774_5305775del, NC_000019.10:g.5305775del, NC_000019.10:g.5305775dup, NC_000019.10:g.5305774_5305775dup, NC_000019.10:g.5305773_5305775dup, NC_000019.10:g.5305772_5305775dup, NC_000019.10:g.5305771_5305775dup, NC_000019.9:g.5305781_5305786del, NC_000019.9:g.5305782_5305786del, NC_000019.9:g.5305783_5305786del, NC_000019.9:g.5305784_5305786del, NC_000019.9:g.5305785_5305786del, NC_000019.9:g.5305786del, NC_000019.9:g.5305786dup, NC_000019.9:g.5305785_5305786dup, NC_000019.9:g.5305784_5305786dup, NC_000019.9:g.5305783_5305786dup, NC_000019.9:g.5305782_5305786dup, NG_033964.1:g.40033_40038del, NG_033964.1:g.40034_40038del, NG_033964.1:g.40035_40038del, NG_033964.1:g.40036_40038del, NG_033964.1:g.40037_40038del, NG_033964.1:g.40038del, NG_033964.1:g.40038dup, NG_033964.1:g.40037_40038dup, NG_033964.1:g.40036_40038dup, NG_033964.1:g.40035_40038dup, NG_033964.1:g.40034_40038dup

Select item 149141777815.

rs1491417778 [Homo sapiens]

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

Select item 149140362516.

rs1491403625 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:5240889 (GRCh38)
19:5240900 (GRCh37)
Canonical SPDI:: NC_000019.10:5240888:AT:
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000337/4 (ALFA)
-=0.000145/16 (GnomAD)
HGVS:: NC_000019.10:g.5240889_5240890del, NC_000019.9:g.5240900_5240901del, NG_033964.1:g.104914_104915del

Select item 149138856017.

rs1491388560 has merged into rs145181333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:5280796 (GRCh38)
19:5280807 (GRCh37)
Canonical SPDI:: NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTT,NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:5280787:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.1004/184 (Korea1K)
T=0.3027/1516 (1000Genomes)
T=0.375/15 (GENOME_DK)
-=0.4609/460 (GoNL)
HGVS:: NC_000019.10:g.5280796_5280798del, NC_000019.10:g.5280797_5280798del, NC_000019.10:g.5280798del, NC_000019.10:g.5280798dup, NC_000019.10:g.5280797_5280798dup, NC_000019.10:g.5280791_5280798dup, NC_000019.10:g.5280789_5280798dup, NC_000019.9:g.5280807_5280809del, NC_000019.9:g.5280808_5280809del, NC_000019.9:g.5280809del, NC_000019.9:g.5280809dup, NC_000019.9:g.5280808_5280809dup, NC_000019.9:g.5280802_5280809dup, NC_000019.9:g.5280800_5280809dup, NG_033964.1:g.65014_65016del, NG_033964.1:g.65015_65016del, NG_033964.1:g.65016del, NG_033964.1:g.65016dup, NG_033964.1:g.65015_65016dup, NG_033964.1:g.65009_65016dup, NG_033964.1:g.65007_65016dup

Select item 149137154818.

rs1491371548 has merged into rs59799136 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:5300771 (GRCh38)
19:5300782 (GRCh37)
Canonical SPDI:: NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5300767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.288938/1447 (1000Genomes)
HGVS:: NC_000019.10:g.5300771_5300785del, NC_000019.10:g.5300778_5300785del, NC_000019.10:g.5300779_5300785del, NC_000019.10:g.5300780_5300785del, NC_000019.10:g.5300781_5300785del, NC_000019.10:g.5300783_5300785del, NC_000019.10:g.5300784_5300785del, NC_000019.10:g.5300785del, NC_000019.10:g.5300785dup, NC_000019.10:g.5300784_5300785dup, NC_000019.10:g.5300783_5300785dup, NC_000019.10:g.5300782_5300785dup, NC_000019.10:g.5300781_5300785dup, NC_000019.10:g.5300780_5300785dup, NC_000019.10:g.5300779_5300785dup, NC_000019.10:g.5300777_5300785dup, NC_000019.10:g.5300776_5300785dup, NC_000019.10:g.5300775_5300785dup, NC_000019.10:g.5300774_5300785dup, NC_000019.10:g.5300773_5300785dup, NC_000019.10:g.5300772_5300785dup, NC_000019.10:g.5300771_5300785dup, NC_000019.10:g.5300770_5300785dup, NC_000019.10:g.5300768_5300785dup, NC_000019.10:g.5300785_5300786insAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5300785_5300786insAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5300782_5300796del, NC_000019.9:g.5300789_5300796del, NC_000019.9:g.5300790_5300796del, NC_000019.9:g.5300791_5300796del, NC_000019.9:g.5300792_5300796del, NC_000019.9:g.5300794_5300796del, NC_000019.9:g.5300795_5300796del, NC_000019.9:g.5300796del, NC_000019.9:g.5300796dup, NC_000019.9:g.5300795_5300796dup, NC_000019.9:g.5300794_5300796dup, NC_000019.9:g.5300793_5300796dup, NC_000019.9:g.5300792_5300796dup, NC_000019.9:g.5300791_5300796dup, NC_000019.9:g.5300790_5300796dup, NC_000019.9:g.5300788_5300796dup, NC_000019.9:g.5300787_5300796dup, NC_000019.9:g.5300786_5300796dup, NC_000019.9:g.5300785_5300796dup, NC_000019.9:g.5300784_5300796dup, NC_000019.9:g.5300783_5300796dup, NC_000019.9:g.5300782_5300796dup, NC_000019.9:g.5300781_5300796dup, NC_000019.9:g.5300779_5300796dup, NC_000019.9:g.5300796_5300797insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5300796_5300797insAAAAAAAAAAAAAAAAAAAAA, NG_033964.1:g.45022_45036del, NG_033964.1:g.45029_45036del, NG_033964.1:g.45030_45036del, NG_033964.1:g.45031_45036del, NG_033964.1:g.45032_45036del, NG_033964.1:g.45034_45036del, NG_033964.1:g.45035_45036del, NG_033964.1:g.45036del, NG_033964.1:g.45036dup, NG_033964.1:g.45035_45036dup, NG_033964.1:g.45034_45036dup, NG_033964.1:g.45033_45036dup, NG_033964.1:g.45032_45036dup, NG_033964.1:g.45031_45036dup, NG_033964.1:g.45030_45036dup, NG_033964.1:g.45028_45036dup, NG_033964.1:g.45027_45036dup, NG_033964.1:g.45026_45036dup, NG_033964.1:g.45025_45036dup, NG_033964.1:g.45024_45036dup, NG_033964.1:g.45023_45036dup, NG_033964.1:g.45022_45036dup, NG_033964.1:g.45021_45036dup, NG_033964.1:g.45019_45036dup, NG_033964.1:g.45036_45037insTTTTTTTTTTTTTTTTTTTT, NG_033964.1:g.45036_45037insTTTTTTTTTTTTTTTTTTTTT

Select item 149136799819.

rs1491367998 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:5228347 (GRCh38)
19:5228358 (GRCh37)
Canonical SPDI:: NC_000019.10:5228344:GAGA:GA
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
-=0.00037/12 (GnomAD)
-=0.00078/5 (1000Genomes)
HGVS:: NC_000019.10:g.5228345GA[1], NC_000019.9:g.5228356GA[1], NG_033964.1:g.117456TC[1]

Select item 149136247920.

rs1491362479 has merged into rs35490567 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:5223571 (GRCh38)
19:5223582 (GRCh37)
Canonical SPDI:: NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:5223560:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTT=0.2754/1379 (1000Genomes)
HGVS:: NC_000019.10:g.5223571_5223580del, NC_000019.10:g.5223572_5223580del, NC_000019.10:g.5223573_5223580del, NC_000019.10:g.5223574_5223580del, NC_000019.10:g.5223575_5223580del, NC_000019.10:g.5223576_5223580del, NC_000019.10:g.5223577_5223580del, NC_000019.10:g.5223578_5223580del, NC_000019.10:g.5223579_5223580del, NC_000019.10:g.5223580del, NC_000019.10:g.5223580dup, NC_000019.10:g.5223579_5223580dup, NC_000019.10:g.5223578_5223580dup, NC_000019.9:g.5223582_5223591del, NC_000019.9:g.5223583_5223591del, NC_000019.9:g.5223584_5223591del, NC_000019.9:g.5223585_5223591del, NC_000019.9:g.5223586_5223591del, NC_000019.9:g.5223587_5223591del, NC_000019.9:g.5223588_5223591del, NC_000019.9:g.5223589_5223591del, NC_000019.9:g.5223590_5223591del, NC_000019.9:g.5223591del, NC_000019.9:g.5223591dup, NC_000019.9:g.5223590_5223591dup, NC_000019.9:g.5223589_5223591dup, NG_033964.1:g.122234_122243del, NG_033964.1:g.122235_122243del, NG_033964.1:g.122236_122243del, NG_033964.1:g.122237_122243del, NG_033964.1:g.122238_122243del, NG_033964.1:g.122239_122243del, NG_033964.1:g.122240_122243del, NG_033964.1:g.122241_122243del, NG_033964.1:g.122242_122243del, NG_033964.1:g.122243del, NG_033964.1:g.122243dup, NG_033964.1:g.122242_122243dup, NG_033964.1:g.122241_122243dup

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