SNP Links for Gene (Select 6652) - SNP

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Select item 14915621811.

rs1491562181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:45073558 (GRCh38)
15:45365757 (GRCh37)
Canonical SPDI:: NC_000015.10:45073558:A:AA
Gene:: SORD (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000017/2 (ExAC)
A=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.45073559dup, NC_000015.9:g.45365757dup, NM_003104.6:c.*29dup, NM_003104.5:c.*29dup, NR_034039.2:n.1277dup, NR_034039.1:n.1368dup

Select item 14915179462.

rs1491517946 [Homo sapiens]

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

Select item 14914391383.

rs1491439138 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTC,TTTTTG [Show Flanks]
Chromosome:: 15:45069224 (GRCh38)
15:45361423 (GRCh37)
Canonical SPDI:: NC_000015.10:45069224::TTTTTC,NC_000015.10:45069224::TTTTTG
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTG=0.000017/2 (GnomAD)
HGVS:: NC_000015.10:g.45069224_45069225insTTTTTC, NC_000015.10:g.45069224_45069225insTTTTTG, NC_000015.9:g.45361422_45361423insTTTTTC, NC_000015.9:g.45361422_45361423insTTTTTG

Select item 14914325804.

rs1491432580 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:45068868 (GRCh38)
15:45361066 (GRCh37)
Canonical SPDI:: NC_000015.10:45068867:TA:
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.030951/311 (GoESP)
HGVS:: NC_000015.10:g.45068868_45068869del, NC_000015.9:g.45361066_45361067del

Select item 14913720515.

rs1491372051 has merged into rs752540495 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:45069205 (GRCh38)
15:45361403 (GRCh37)
Canonical SPDI:: NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45069194:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000113/30 (TOPMED)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000015.10:g.45069205_45069224del, NC_000015.10:g.45069206_45069224del, NC_000015.10:g.45069207_45069224del, NC_000015.10:g.45069208_45069224del, NC_000015.10:g.45069209_45069224del, NC_000015.10:g.45069210_45069224del, NC_000015.10:g.45069211_45069224del, NC_000015.10:g.45069212_45069224del, NC_000015.10:g.45069213_45069224del, NC_000015.10:g.45069214_45069224del, NC_000015.10:g.45069215_45069224del, NC_000015.10:g.45069216_45069224del, NC_000015.10:g.45069217_45069224del, NC_000015.10:g.45069218_45069224del, NC_000015.10:g.45069219_45069224del, NC_000015.10:g.45069220_45069224del, NC_000015.10:g.45069221_45069224del, NC_000015.10:g.45069222_45069224del, NC_000015.10:g.45069223_45069224del, NC_000015.10:g.45069224del, NC_000015.10:g.45069224dup, NC_000015.10:g.45069223_45069224dup, NC_000015.10:g.45069222_45069224dup, NC_000015.10:g.45069221_45069224dup, NC_000015.10:g.45069220_45069224dup, NC_000015.10:g.45069219_45069224dup, NC_000015.10:g.45069218_45069224dup, NC_000015.10:g.45069217_45069224dup, NC_000015.10:g.45069216_45069224dup, NC_000015.10:g.45069215_45069224dup, NC_000015.10:g.45069214_45069224dup, NC_000015.10:g.45069213_45069224dup, NC_000015.10:g.45069212_45069224dup, NC_000015.10:g.45069211_45069224dup, NC_000015.10:g.45069209_45069224dup, NC_000015.10:g.45069208_45069224dup, NC_000015.10:g.45069207_45069224dup, NC_000015.10:g.45069206_45069224dup, NC_000015.10:g.45069205_45069224dup, NC_000015.10:g.45069204_45069224dup, NC_000015.10:g.45069224_45069225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.45361403_45361422del, NC_000015.9:g.45361404_45361422del, NC_000015.9:g.45361405_45361422del, NC_000015.9:g.45361406_45361422del, NC_000015.9:g.45361407_45361422del, NC_000015.9:g.45361408_45361422del, NC_000015.9:g.45361409_45361422del, NC_000015.9:g.45361410_45361422del, NC_000015.9:g.45361411_45361422del, NC_000015.9:g.45361412_45361422del, NC_000015.9:g.45361413_45361422del, NC_000015.9:g.45361414_45361422del, NC_000015.9:g.45361415_45361422del, NC_000015.9:g.45361416_45361422del, NC_000015.9:g.45361417_45361422del, NC_000015.9:g.45361418_45361422del, NC_000015.9:g.45361419_45361422del, NC_000015.9:g.45361420_45361422del, NC_000015.9:g.45361421_45361422del, NC_000015.9:g.45361422del, NC_000015.9:g.45361422dup, NC_000015.9:g.45361421_45361422dup, NC_000015.9:g.45361420_45361422dup, NC_000015.9:g.45361419_45361422dup, NC_000015.9:g.45361418_45361422dup, NC_000015.9:g.45361417_45361422dup, NC_000015.9:g.45361416_45361422dup, NC_000015.9:g.45361415_45361422dup, NC_000015.9:g.45361414_45361422dup, NC_000015.9:g.45361413_45361422dup, NC_000015.9:g.45361412_45361422dup, NC_000015.9:g.45361411_45361422dup, NC_000015.9:g.45361410_45361422dup, NC_000015.9:g.45361409_45361422dup, NC_000015.9:g.45361407_45361422dup, NC_000015.9:g.45361406_45361422dup, NC_000015.9:g.45361405_45361422dup, NC_000015.9:g.45361404_45361422dup, NC_000015.9:g.45361403_45361422dup, NC_000015.9:g.45361402_45361422dup, NC_000015.9:g.45361422_45361423insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912675946.

rs1491267594 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:45036802 (GRCh38)
15:45329001 (GRCh37)
Canonical SPDI:: NC_000015.10:45036802::C
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000087/23 (TOPMED)
HGVS:: NC_000015.10:g.45036802_45036803insC, NC_000015.9:g.45329000_45329001insC

Select item 14912451047.

rs1491245104 has merged into rs58487905 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:45045555 (GRCh38)
15:45337753 (GRCh37)
Canonical SPDI:: NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45045544:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.203/109 (NorthernSweden)
HGVS:: NC_000015.10:g.45045555_45045569del, NC_000015.10:g.45045556_45045569del, NC_000015.10:g.45045557_45045569del, NC_000015.10:g.45045558_45045569del, NC_000015.10:g.45045559_45045569del, NC_000015.10:g.45045560_45045569del, NC_000015.10:g.45045561_45045569del, NC_000015.10:g.45045563_45045569del, NC_000015.10:g.45045564_45045569del, NC_000015.10:g.45045565_45045569del, NC_000015.10:g.45045566_45045569del, NC_000015.10:g.45045567_45045569del, NC_000015.10:g.45045568_45045569del, NC_000015.10:g.45045569del, NC_000015.10:g.45045569dup, NC_000015.10:g.45045568_45045569dup, NC_000015.10:g.45045567_45045569dup, NC_000015.10:g.45045565_45045569dup, NC_000015.10:g.45045564_45045569dup, NC_000015.10:g.45045569_45045570insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.45337753_45337767del, NC_000015.9:g.45337754_45337767del, NC_000015.9:g.45337755_45337767del, NC_000015.9:g.45337756_45337767del, NC_000015.9:g.45337757_45337767del, NC_000015.9:g.45337758_45337767del, NC_000015.9:g.45337759_45337767del, NC_000015.9:g.45337761_45337767del, NC_000015.9:g.45337762_45337767del, NC_000015.9:g.45337763_45337767del, NC_000015.9:g.45337764_45337767del, NC_000015.9:g.45337765_45337767del, NC_000015.9:g.45337766_45337767del, NC_000015.9:g.45337767del, NC_000015.9:g.45337767dup, NC_000015.9:g.45337766_45337767dup, NC_000015.9:g.45337765_45337767dup, NC_000015.9:g.45337763_45337767dup, NC_000015.9:g.45337762_45337767dup, NC_000015.9:g.45337767_45337768insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912118508.

rs1491211850 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:45069224 (GRCh38)
15:45361422 (GRCh37)
Canonical SPDI:: NC_000015.10:45069223:TG:
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.45069224_45069225del, NC_000015.9:g.45361422_45361423del

Select item 14911416099.

rs1491141609 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:45066244 (GRCh38)
15:45358442 (GRCh37)
Canonical SPDI:: NC_000015.10:45066243:CA:
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000015.10:g.45066244_45066245del, NC_000015.9:g.45358442_45358443del

Select item 149110331510.

rs1491103315 has merged into rs908543618 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG,AGAGAGAG [Show Flanks]
Chromosome:: 15:45068432 (GRCh38)
15:45360630 (GRCh37)
Canonical SPDI:: NC_000015.10:45068421:AGAGAGAGAGAGAG:AGAGAGAGAG,NC_000015.10:45068421:AGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000015.10:45068421:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000015.10:45068421:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0./0 (ALFA)
AG=0.02074/38 (Korea1K)
HGVS:: NC_000015.10:g.45068422AG[5], NC_000015.10:g.45068422AG[6], NC_000015.10:g.45068422AG[8], NC_000015.10:g.45068422AG[9], NC_000015.9:g.45360620AG[5], NC_000015.9:g.45360620AG[6], NC_000015.9:g.45360620AG[8], NC_000015.9:g.45360620AG[9]

Select item 149109965011.

rs1491099650 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:45045544 (GRCh38)
15:45337742 (GRCh37)
Canonical SPDI:: NC_000015.10:45045543:CA:
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.45045544_45045545del, NC_000015.9:g.45337742_45337743del

Select item 149098069812.

rs1490980698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:45026378 (GRCh38)
15:45318576 (GRCh37)
Canonical SPDI:: NC_000015.10:45026377:C:G
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.45026378C>G, NC_000015.9:g.45318576C>G

Select item 149094719413.

rs1490947194 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149093163814.

rs1490931638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45066516 (GRCh38)
15:45358714 (GRCh37)
Canonical SPDI:: NC_000015.10:45066515:G:A
Gene:: SORD (Varview)
Functional Consequence:: intron_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_000015.10:g.45066516G>A, NC_000015.9:g.45358714G>A

Select item 149092151415.

rs1490921514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:45046946 (GRCh38)
15:45339144 (GRCh37)
Canonical SPDI:: NC_000015.10:45046945:A:G,NC_000015.10:45046945:A:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.45046946A>G, NC_000015.10:g.45046946A>T, NC_000015.9:g.45339144A>G, NC_000015.9:g.45339144A>T

Select item 149092119916.

rs1490921199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45035245 (GRCh38)
15:45327443 (GRCh37)
Canonical SPDI:: NC_000015.10:45035244:G:A
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45035245G>A, NC_000015.9:g.45327443G>A

Select item 149086988717.

rs1490869887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45061885 (GRCh38)
15:45354083 (GRCh37)
Canonical SPDI:: NC_000015.10:45061884:A:G
Gene:: SORD (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_000015.10:g.45061885A>G, NC_000015.9:g.45354083A>G

Select item 149086760918.

rs1490867609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45033192 (GRCh38)
15:45325390 (GRCh37)
Canonical SPDI:: NC_000015.10:45033191:T:C
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.45033192T>C, NC_000015.9:g.45325390T>C

Select item 149086211019.

rs1490862110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45075081 (GRCh38)
15:45367279 (GRCh37)
Canonical SPDI:: NC_000015.10:45075080:C:T
Gene:: SORD (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.45075081C>T, NC_000015.9:g.45367279C>T, NM_003104.6:c.*1551C>T, NM_003104.5:c.*1551C>T, NR_034039.2:n.2799C>T, NR_034039.1:n.2890C>T

Select item 149080006320.

rs1490800063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:45067874 (GRCh38)
15:45360072 (GRCh37)
Canonical SPDI:: NC_000015.10:45067873:C:G
Gene:: SORD (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.45067874C>G, NC_000015.9:g.45360072C>G

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