SNP Links for Gene (Select 129530) - SNP

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Select item 14912702011.

rs1491270201 has merged into rs55751852 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTGTTGTTGTT>-,GTT,GTTGTT,GTTGTTGTT,GTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTT,GTTGTTGTTGTTGTTGTTGTTGTT [Show Flanks]
Chromosome:: 2:99289861 (GRCh38)
2:99906324 (GRCh37)
Canonical SPDI:: NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000002.12:99289840:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT:TTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTGTTGTTGTTGTTGTTGTT=0./0 (ALFA)
TTGTTGTTGTTG=0.000064/17 (TOPMED)
HGVS:: NC_000002.12:g.99289843GTT[6], NC_000002.12:g.99289843GTT[7], NC_000002.12:g.99289843GTT[8], NC_000002.12:g.99289843GTT[9], NC_000002.12:g.99289843GTT[11], NC_000002.12:g.99289843GTT[12], NC_000002.12:g.99289843GTT[13], NC_000002.12:g.99289843GTT[14], NC_000002.11:g.99906306GTT[6], NC_000002.11:g.99906306GTT[7], NC_000002.11:g.99906306GTT[8], NC_000002.11:g.99906306GTT[9], NC_000002.11:g.99906306GTT[11], NC_000002.11:g.99906306GTT[12], NC_000002.11:g.99906306GTT[13], NC_000002.11:g.99906306GTT[14]

Select item 14911173102.

rs1491117310 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:99293910 (GRCh38)
2:99910373 (GRCh37)
Canonical SPDI:: NC_000002.12:99293908:TTT:T
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99293910_99293911del, NC_000002.11:g.99910373_99910374del

Select item 14910419013.

rs1491041901 has merged into rs70940159 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:99292996 (GRCh38)
2:99909459 (GRCh37)
Canonical SPDI:: NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99292985:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.99292996_99293009del, NC_000002.12:g.99292998_99293009del, NC_000002.12:g.99292999_99293009del, NC_000002.12:g.99293000_99293009del, NC_000002.12:g.99293001_99293009del, NC_000002.12:g.99293002_99293009del, NC_000002.12:g.99293003_99293009del, NC_000002.12:g.99293004_99293009del, NC_000002.12:g.99293005_99293009del, NC_000002.12:g.99293006_99293009del, NC_000002.12:g.99293007_99293009del, NC_000002.12:g.99293008_99293009del, NC_000002.12:g.99293009del, NC_000002.12:g.99293009dup, NC_000002.12:g.99293008_99293009dup, NC_000002.12:g.99293007_99293009dup, NC_000002.12:g.99293006_99293009dup, NC_000002.12:g.99293005_99293009dup, NC_000002.12:g.99293004_99293009dup, NC_000002.12:g.99293003_99293009dup, NC_000002.12:g.99293002_99293009dup, NC_000002.12:g.99293001_99293009dup, NC_000002.12:g.99293000_99293009dup, NC_000002.12:g.99292999_99293009dup, NC_000002.12:g.99292998_99293009dup, NC_000002.12:g.99292997_99293009dup, NC_000002.12:g.99292996_99293009dup, NC_000002.12:g.99292995_99293009dup, NC_000002.12:g.99293009_99293010insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99293009_99293010insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99293009_99293010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.99293009_99293010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.99909459_99909472del, NC_000002.11:g.99909461_99909472del, NC_000002.11:g.99909462_99909472del, NC_000002.11:g.99909463_99909472del, NC_000002.11:g.99909464_99909472del, NC_000002.11:g.99909465_99909472del, NC_000002.11:g.99909466_99909472del, NC_000002.11:g.99909467_99909472del, NC_000002.11:g.99909468_99909472del, NC_000002.11:g.99909469_99909472del, NC_000002.11:g.99909470_99909472del, NC_000002.11:g.99909471_99909472del, NC_000002.11:g.99909472del, NC_000002.11:g.99909472dup, NC_000002.11:g.99909471_99909472dup, NC_000002.11:g.99909470_99909472dup, NC_000002.11:g.99909469_99909472dup, NC_000002.11:g.99909468_99909472dup, NC_000002.11:g.99909467_99909472dup, NC_000002.11:g.99909466_99909472dup, NC_000002.11:g.99909465_99909472dup, NC_000002.11:g.99909464_99909472dup, NC_000002.11:g.99909463_99909472dup, NC_000002.11:g.99909462_99909472dup, NC_000002.11:g.99909461_99909472dup, NC_000002.11:g.99909460_99909472dup, NC_000002.11:g.99909459_99909472dup, NC_000002.11:g.99909458_99909472dup, NC_000002.11:g.99909472_99909473insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.99909472_99909473insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.99909472_99909473insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.99909472_99909473insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909791554.

rs1490979155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99295374 (GRCh38)
2:99911837 (GRCh37)
Canonical SPDI:: NC_000002.12:99295373:T:C
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.99295374T>C, NC_000002.11:g.99911837T>C

Select item 14909781485.

rs1490978148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:99291131 (GRCh38)
2:99907594 (GRCh37)
Canonical SPDI:: NC_000002.12:99291130:G:T
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.99291131G>T, NC_000002.11:g.99907594G>T

Select item 14909059206.

rs1490905920 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGGACGCAC [Show Flanks]
Chromosome:: 2:99306469 (GRCh38)
2:99922933 (GRCh37)
Canonical SPDI:: NC_000002.12:99306469:C:CAGAGGACGCAC
Gene:: TXNDC9 (Varview), LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: CAGAGGACGCA=0.000071/10 (GnomAD)
HGVS:: NC_000002.12:g.99306470_99306471insAGAGGACGCAC, NC_000002.11:g.99922933_99922934insAGAGGACGCAC, XM_017003147.3:c.*303_*304insTGCGTCCTCTG, XM_017003147.2:c.*303_*304insTGCGTCCTCTG, XM_017003147.1:c.*303_*304insTGCGTCCTCTG

Select item 14907982767.

rs1490798276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99289483 (GRCh38)
2:99905946 (GRCh37)
Canonical SPDI:: NC_000002.12:99289482:T:C
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.99289483T>C, NC_000002.11:g.99905946T>C

Select item 14907625208.

rs1490762520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:99290736 (GRCh38)
2:99907199 (GRCh37)
Canonical SPDI:: NC_000002.12:99290735:C:G
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99290736C>G, NC_000002.11:g.99907199C>G

Select item 14905941149.

rs1490594114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99298568 (GRCh38)
2:99915031 (GRCh37)
Canonical SPDI:: NC_000002.12:99298567:G:A
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.99298568G>A, NC_000002.11:g.99915031G>A

Select item 149048891310.

rs1490488913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99296834 (GRCh38)
2:99913297 (GRCh37)
Canonical SPDI:: NC_000002.12:99296833:C:T
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.99296834C>T, NC_000002.11:g.99913297C>T

Select item 149043308311.

rs1490433083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:99299302 (GRCh38)
2:99915765 (GRCh37)
Canonical SPDI:: NC_000002.12:99299301:A:T
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000058/6 (GnomAD)
HGVS:: NC_000002.12:g.99299302A>T, NC_000002.11:g.99915765A>T

Select item 149036490312.

rs1490364903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:99306714 (GRCh38)
2:99923177 (GRCh37)
Canonical SPDI:: NC_000002.12:99306713:G:A,NC_000002.12:99306713:G:T
Gene:: TXNDC9 (Varview), LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.99306714G>A, NC_000002.12:g.99306714G>T, NC_000002.11:g.99923177G>A, NC_000002.11:g.99923177G>T, XM_017003147.3:c.*59C>T, XM_017003147.3:c.*59C>A, XM_017003147.2:c.*59C>T, XM_017003147.2:c.*59C>A, XM_017003147.1:c.*59C>T, XM_017003147.1:c.*59C>A

Select item 149006012113.

rs1490060121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:99292289 (GRCh38)
2:99908752 (GRCh37)
Canonical SPDI:: NC_000002.12:99292288:A:T
Gene:: LYG1 (Varview), LOC107985923 (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_000002.12:g.99292289A>T, NC_000002.11:g.99908752A>T

Select item 149002132214.

rs1490021322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99300193 (GRCh38)
2:99916656 (GRCh37)
Canonical SPDI:: NC_000002.12:99300192:G:A
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.99300193G>A, NC_000002.11:g.99916656G>A

Select item 148980854315.

rs1489808543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:99300792 (GRCh38)
2:99917255 (GRCh37)
Canonical SPDI:: NC_000002.12:99300791:C:G,NC_000002.12:99300791:C:T
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.99300792C>G, NC_000002.12:g.99300792C>T, NC_000002.11:g.99917255C>G, NC_000002.11:g.99917255C>T

Select item 148943142016.

rs1489431420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:99297475 (GRCh38)
2:99913938 (GRCh37)
Canonical SPDI:: NC_000002.12:99297474:T:A
Gene:: LYG1 (Varview), LOC107985923 (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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99297475T>A, NC_000002.11:g.99913938T>A

Select item 148936681317.

rs1489366813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:99298678 (GRCh38)
2:99915141 (GRCh37)
Canonical SPDI:: NC_000002.12:99298677:G:C
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000002.12:g.99298678G>C, NC_000002.11:g.99915141G>C

Select item 148891002818.

rs1488910028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99304881 (GRCh38)
2:99921344 (GRCh37)
Canonical SPDI:: NC_000002.12:99304880:T:C
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.99304881T>C, NC_000002.11:g.99921344T>C

Select item 148879539119.

rs1488795391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99296120 (GRCh38)
2:99912583 (GRCh37)
Canonical SPDI:: NC_000002.12:99296119:C:T
Gene:: LYG1 (Varview), LOC107985923 (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_000002.12:g.99296120C>T, NC_000002.11:g.99912583C>T

Select item 148874389520.

rs1488743895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99297446 (GRCh38)
2:99913909 (GRCh37)
Canonical SPDI:: NC_000002.12:99297445:T:C
Gene:: LYG1 (Varview), LOC107985923 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.99297446T>C, NC_000002.11:g.99913909T>C

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