SNP Links for Gene (Select 374969) - SNP

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Select item 14914898571.

rs1491489857 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTA [Show Flanks]
Chromosome:: 1:42815629 (GRCh38)
1:43281301 (GRCh37)
Canonical SPDI:: NC_000001.11:42815629:ATTA:ATTAATTA
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATTAATTA=0./0 (ALFA)
ATTA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42815630_42815633dup, NC_000001.10:g.43281301_43281304dup, NG_008749.1:g.3526_3529dup

Select item 14914559842.

rs1491455984 has merged into rs142694785 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:42807166 (GRCh38)
1:43272837 (GRCh37)
Canonical SPDI:: NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:42807153:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: SVBP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3648/1827 (1000Genomes)
HGVS:: NC_000001.11:g.42807166_42807169del, NC_000001.11:g.42807167_42807169del, NC_000001.11:g.42807168_42807169del, NC_000001.11:g.42807169del, NC_000001.11:g.42807169dup, NC_000001.11:g.42807168_42807169dup, NC_000001.11:g.42807167_42807169dup, NC_000001.11:g.42807166_42807169dup, NC_000001.10:g.43272837_43272840del, NC_000001.10:g.43272838_43272840del, NC_000001.10:g.43272839_43272840del, NC_000001.10:g.43272840del, NC_000001.10:g.43272840dup, NC_000001.10:g.43272839_43272840dup, NC_000001.10:g.43272838_43272840dup, NC_000001.10:g.43272837_43272840dup, NM_199342.4:c.*257_*260del, NM_199342.4:c.*258_*260del, NM_199342.4:c.*259_*260del, NM_199342.4:c.*260del, NM_199342.4:c.*260dup, NM_199342.4:c.*259_*260dup, NM_199342.4:c.*258_*260dup, NM_199342.4:c.*257_*260dup, NM_199342.3:c.*257_*260del, NM_199342.3:c.*258_*260del, NM_199342.3:c.*259_*260del, NM_199342.3:c.*260del, NM_199342.3:c.*260dup, NM_199342.3:c.*259_*260dup, NM_199342.3:c.*258_*260dup, NM_199342.3:c.*257_*260dup, XM_017001226.2:c.*257_*260del, XM_017001226.2:c.*258_*260del, XM_017001226.2:c.*259_*260del, XM_017001226.2:c.*260del, XM_017001226.2:c.*260dup, XM_017001226.2:c.*259_*260dup, XM_017001226.2:c.*258_*260dup, XM_017001226.2:c.*257_*260dup, XM_017001226.1:c.*257_*260del, XM_017001226.1:c.*258_*260del, XM_017001226.1:c.*259_*260del, XM_017001226.1:c.*260del, XM_017001226.1:c.*260dup, XM_017001226.1:c.*259_*260dup, XM_017001226.1:c.*258_*260dup, XM_017001226.1:c.*257_*260dup

Select item 14912936013.

rs1491293601 has merged into rs3048761 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGC [Show Flanks]
Chromosome:: 1:42819213 (GRCh38)
1:43284884 (GRCh37)
Canonical SPDI:: NC_000001.11:42819206:GCGCGCGCGC:GCGCGC,NC_000001.11:42819206:GCGCGCGCGC:GCGCGCGC,NC_000001.11:42819206:GCGCGCGCGC:GCGCGCGCGCGC,NC_000001.11:42819206:GCGCGCGCGC:GCGCGCGCGCGCGC,NC_000001.11:42819206:GCGCGCGCGC:GCGCGCGCGCGCGCGC
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGC=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000001.11:g.42819207GC[3], NC_000001.11:g.42819207GC[4], NC_000001.11:g.42819207GC[6], NC_000001.11:g.42819207GC[7], NC_000001.11:g.42819207GC[8], NC_000001.10:g.43284878GC[3], NC_000001.10:g.43284878GC[4], NC_000001.10:g.43284878GC[6], NC_000001.10:g.43284878GC[7], NC_000001.10:g.43284878GC[8], NG_008749.1:g.7103GC[3], NG_008749.1:g.7103GC[4], NG_008749.1:g.7103GC[6], NG_008749.1:g.7103GC[7], NG_008749.1:g.7103GC[8]

Select item 14912439014.

rs1491243901 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:42807169 (GRCh38)
1:43272840 (GRCh37)
Canonical SPDI:: NC_000001.11:42807168:TA:
Gene:: SVBP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.42807169_42807170del, NC_000001.10:g.43272840_43272841del, NM_199342.4:c.*244_*245del, NM_199342.3:c.*244_*245del, XM_017001226.2:c.*244_*245del, XM_017001226.1:c.*244_*245del

Select item 14911564185.

rs1491156418 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:42815630 (GRCh38)
1:43281301 (GRCh37)
Canonical SPDI:: NC_000001.11:42815628:TAT:T
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000001.11:g.42815630_42815631del, NC_000001.10:g.43281301_43281302del, NG_008749.1:g.3526_3527del

Select item 14911092246.

rs1491109224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 1:42810125 (GRCh38)
1:43275796 (GRCh37)
Canonical SPDI:: NC_000001.11:42810123:ATA:A,NC_000001.11:42810123:ATA:ATATA
Gene:: SVBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00077/9 (ALFA)
-=0.01677/280 (TOMMO)
-=0.03/18 (NorthernSweden)
-=0.0306/56 (Korea1K)
-=0.06409/247 (ALSPAC)
-=0.06796/252 (TWINSUK)
HGVS:: NC_000001.11:g.42810125_42810126del, NC_000001.11:g.42810125_42810126dup, NC_000001.10:g.43275796_43275797del, NC_000001.10:g.43275796_43275797dup

Select item 14905639337.

rs1490563933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42819313 (GRCh38)
1:43284984 (GRCh37)
Canonical SPDI:: NC_000001.11:42819312:G:T
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42819313G>T, NC_000001.10:g.43284984G>T, NG_008749.1:g.7209G>T

Select item 14905280548.

rs1490528054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42818556 (GRCh38)
1:43284227 (GRCh37)
Canonical SPDI:: NC_000001.11:42818555:A:G
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42818556A>G, NC_000001.10:g.43284227A>G, NG_008749.1:g.6452A>G

Select item 14901988109.

rs1490198810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42817398 (GRCh38)
1:43283069 (GRCh37)
Canonical SPDI:: NC_000001.11:42817397:A:G
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42817398A>G, NC_000001.10:g.43283069A>G, NG_008749.1:g.5294A>G

Select item 149012793310.

rs1490127933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42817515 (GRCh38)
1:43283186 (GRCh37)
Canonical SPDI:: NC_000001.11:42817514:G:A
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.42817515G>A, NC_000001.10:g.43283186G>A, NG_008749.1:g.5411G>A

Select item 148985609411.

rs1489856094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42811068 (GRCh38)
1:43276739 (GRCh37)
Canonical SPDI:: NC_000001.11:42811067:G:A
Gene:: SVBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.42811068G>A, NC_000001.10:g.43276739G>A

Select item 148980520912.

rs1489805209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42810249 (GRCh38)
1:43275920 (GRCh37)
Canonical SPDI:: NC_000001.11:42810248:G:A
Gene:: SVBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.42810249G>A, NC_000001.10:g.43275920G>A

Select item 148917232613.

rs1489172326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42806861 (GRCh38)
1:43272532 (GRCh37)
Canonical SPDI:: NC_000001.11:42806860:G:A
Gene:: SVBP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.42806861G>A, NC_000001.10:g.43272532G>A

Select item 148910426414.

rs1489104264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:42817072 (GRCh38)
1:43282743 (GRCh37)
Canonical SPDI:: NC_000001.11:42817071:G:C
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (SGDP_PRJ)
C=0.00345/58 (TOMMO)
HGVS:: NC_000001.11:g.42817072G>C, NC_000001.10:g.43282743G>C, NG_008749.1:g.4968G>C

Select item 148896756515.

rs1488967565 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 1:42814809 (GRCh38)
1:43280480 (GRCh37)
Canonical SPDI:: NC_000001.11:42814805:GTGGTG:GTG
Gene:: SVBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGTG=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.42814806GTG[1], NC_000001.10:g.43280477GTG[1], NG_008749.1:g.2702GTG[1]

Select item 148888914516.

rs1488889145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42817350 (GRCh38)
1:43283021 (GRCh37)
Canonical SPDI:: NC_000001.11:42817349:C:T
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.42817350C>T, NC_000001.10:g.43283021C>T, NG_008749.1:g.5246C>T, NM_199342.4:c.-197G>A, NM_199342.3:c.-197G>A, XM_017001226.2:c.-222G>A, XM_017001226.1:c.-222G>A

Select item 148881895617.

rs1488818956 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:42817484 (GRCh38)
1:43283155 (GRCh37)
Canonical SPDI:: NC_000001.11:42817483:T:C,NC_000001.11:42817483:T:G
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42817484T>C, NC_000001.11:g.42817484T>G, NC_000001.10:g.43283155T>C, NC_000001.10:g.43283155T>G, NG_008749.1:g.5380T>C, NG_008749.1:g.5380T>G

Select item 148835385618.

rs1488353856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:42819328 (GRCh38)
1:43285000 (GRCh37)
Canonical SPDI:: NC_000001.11:42819328:A:AA
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42819329dup, NC_000001.10:g.43285000dup, NG_008749.1:g.7225dup

Select item 148820408219.

rs1488204082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:42813610 (GRCh38)
1:43279281 (GRCh37)
Canonical SPDI:: NC_000001.11:42813609:T:G
Gene:: SVBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42813610T>G, NC_000001.10:g.43279281T>G, NG_008749.1:g.1506T>G

Select item 148780758820.

rs1487807588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42816393 (GRCh38)
1:43282064 (GRCh37)
Canonical SPDI:: NC_000001.11:42816392:C:T
Gene:: ERMAP (Varview), SVBP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42816393C>T, NC_000001.10:g.43282064C>T, NG_008749.1:g.4289C>T

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