SNP Links for Gene (Select 105377119) - SNP

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Select item 14915160071.

rs1491516007 has merged into rs138265713 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:63704465 (GRCh38)
3:63690141 (GRCh37)
Canonical SPDI:: NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:63704456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.22384/1121 (1000Genomes)
HGVS:: NC_000003.12:g.63704465_63704477del, NC_000003.12:g.63704468_63704477del, NC_000003.12:g.63704469_63704477del, NC_000003.12:g.63704471_63704477del, NC_000003.12:g.63704472_63704477del, NC_000003.12:g.63704473_63704477del, NC_000003.12:g.63704474_63704477del, NC_000003.12:g.63704475_63704477del, NC_000003.12:g.63704476_63704477del, NC_000003.12:g.63704477del, NC_000003.12:g.63704477dup, NC_000003.12:g.63704476_63704477dup, NC_000003.12:g.63704475_63704477dup, NC_000003.12:g.63704474_63704477dup, NC_000003.12:g.63704477_63704478insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.63704457_63704477A[21]GGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.63690141_63690153del, NC_000003.11:g.63690144_63690153del, NC_000003.11:g.63690145_63690153del, NC_000003.11:g.63690147_63690153del, NC_000003.11:g.63690148_63690153del, NC_000003.11:g.63690149_63690153del, NC_000003.11:g.63690150_63690153del, NC_000003.11:g.63690151_63690153del, NC_000003.11:g.63690152_63690153del, NC_000003.11:g.63690153del, NC_000003.11:g.63690153dup, NC_000003.11:g.63690152_63690153dup, NC_000003.11:g.63690151_63690153dup, NC_000003.11:g.63690150_63690153dup, NC_000003.11:g.63690153_63690154insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.63690133_63690153A[21]GGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914235842.

rs1491423584 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:63704456 (GRCh38)
3:63690132 (GRCh37)
Canonical SPDI:: NC_000003.12:63704455:GA:
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.63704456_63704457del, NC_000003.11:g.63690132_63690133del

Select item 14904183033.

rs1490418303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:63707315 (GRCh38)
3:63692991 (GRCh37)
Canonical SPDI:: NC_000003.12:63707314:A:G
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_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_000003.12:g.63707315A>G, NC_000003.11:g.63692991A>G

Select item 14902562964.

rs1490256296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63706864 (GRCh38)
3:63692540 (GRCh37)
Canonical SPDI:: NC_000003.12:63706863:C:T
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.63706864C>T, NC_000003.11:g.63692540C>T

Select item 14895925955.

rs1489592595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:63710646 (GRCh38)
3:63696322 (GRCh37)
Canonical SPDI:: NC_000003.12:63710645:T:A,NC_000003.12:63710645:T:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.63710646T>A, NC_000003.12:g.63710646T>C, NC_000003.11:g.63696322T>A, NC_000003.11:g.63696322T>C

Select item 14894531456.

rs1489453145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:63712208 (GRCh38)
3:63697884 (GRCh37)
Canonical SPDI:: NC_000003.12:63712207:G:A,NC_000003.12:63712207:G:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000072/19 (TOPMED)
A=0.000318/5 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.63712208G>A, NC_000003.12:g.63712208G>C, NC_000003.11:g.63697884G>A, NC_000003.11:g.63697884G>C

Select item 14893198317.

rs1489319831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63709601 (GRCh38)
3:63695277 (GRCh37)
Canonical SPDI:: NC_000003.12:63709600:C:T
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.63709601C>T, NC_000003.11:g.63695277C>T

Select item 14892149298.

rs1489214929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:63703780 (GRCh38)
3:63689456 (GRCh37)
Canonical SPDI:: NC_000003.12:63703779:A:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.63703780A>C, NC_000003.11:g.63689456A>C, XR_940902.3:n.683T>G, XR_940902.2:n.683T>G, XR_940902.1:n.634T>G

Select item 14884692879.

rs1488469287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:63708709 (GRCh38)
3:63694385 (GRCh37)
Canonical SPDI:: NC_000003.12:63708708:T:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.63708709T>C, NC_000003.11:g.63694385T>C

Select item 148834061010.

rs1488340610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63704910 (GRCh38)
3:63690586 (GRCh37)
Canonical SPDI:: NC_000003.12:63704909:C:T
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.63704910C>T, NC_000003.11:g.63690586C>T

Select item 148833689811.

rs1488336898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:63709830 (GRCh38)
3:63695506 (GRCh37)
Canonical SPDI:: NC_000003.12:63709829:G:A,NC_000003.12:63709829:G:T
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.63709830G>A, NC_000003.12:g.63709830G>T, NC_000003.11:g.63695506G>A, NC_000003.11:g.63695506G>T

Select item 148818646212.

rs1488186462 [Homo sapiens]

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

Select item 148813550313.

rs1488135503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:63708011 (GRCh38)
3:63693687 (GRCh37)
Canonical SPDI:: NC_000003.12:63708010:G:A
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.63708011G>A, NC_000003.11:g.63693687G>A

Select item 148788532814.

rs1487885328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:63712779 (GRCh38)
3:63698455 (GRCh37)
Canonical SPDI:: NC_000003.12:63712778:T:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.63712779T>C, NC_000003.11:g.63698455T>C

Select item 148707667415.

rs1487076674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:63709709 (GRCh38)
3:63695385 (GRCh37)
Canonical SPDI:: NC_000003.12:63709708:G:A,NC_000003.12:63709708:G:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00066/10 (ALFA)
A=0.000078/11 (GnomAD)
A=0.002455/11 (Estonian)
HGVS:: NC_000003.12:g.63709709G>A, NC_000003.12:g.63709709G>C, NC_000003.11:g.63695385G>A, NC_000003.11:g.63695385G>C

Select item 148674352516.

rs1486743525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:63704001 (GRCh38)
3:63689677 (GRCh37)
Canonical SPDI:: NC_000003.12:63704000:T:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.63704001T>C, NC_000003.11:g.63689677T>C, XR_940902.3:n.462A>G, XR_940902.2:n.462A>G, XR_940902.1:n.413A>G

Select item 148664329917.

rs1486643299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:63712088 (GRCh38)
3:63697764 (GRCh37)
Canonical SPDI:: NC_000003.12:63712087:A:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.63712088A>C, NC_000003.11:g.63697764A>C

Select item 148632639218.

rs1486326392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:63711567 (GRCh38)
3:63697243 (GRCh37)
Canonical SPDI:: NC_000003.12:63711566:G:C
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000003.12:g.63711567G>C, NC_000003.11:g.63697243G>C

Select item 148559260619.

rs1485592606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63703977 (GRCh38)
3:63689653 (GRCh37)
Canonical SPDI:: NC_000003.12:63703976:C:T
Gene:: LOC105377119 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.63703977C>T, NC_000003.11:g.63689653C>T, XR_940902.3:n.486G>A, XR_940902.2:n.486G>A, XR_940902.1:n.437G>A

Select item 148522094220.

rs1485220942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63708036 (GRCh38)
3:63693712 (GRCh37)
Canonical SPDI:: NC_000003.12:63708035:C:T
Gene:: LOC105377119 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.63708036C>T, NC_000003.11:g.63693712C>T

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