SNP Links for Gene (Select 6285) - SNP

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Select item 14910717581.

rs1491071758 has merged into rs3061065 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 21:46599789 (GRCh38)
21:48019702 (GRCh37)
Canonical SPDI:: NC_000021.9:46599780:AAAAAAAAAAA:AAAAAAAA,NC_000021.9:46599780:AAAAAAAAAAA:AAAAAAAAA,NC_000021.9:46599780:AAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:46599780:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:46599780:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3563/1552 (1000Genomes)
HGVS:: NC_000021.9:g.46599789_46599791del, NC_000021.9:g.46599790_46599791del, NC_000021.9:g.46599791del, NC_000021.9:g.46599791dup, NC_000021.9:g.46599790_46599791dup, NC_000021.8:g.48019702_48019704del, NC_000021.8:g.48019703_48019704del, NC_000021.8:g.48019704del, NC_000021.8:g.48019704dup, NC_000021.8:g.48019703_48019704dup

Select item 14909510852.

rs1490951085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:46606794 (GRCh38)
21:48026707 (GRCh37)
Canonical SPDI:: NC_000021.9:46606793:T:G
Gene:: S100B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.46606794T>G, NC_000021.8:g.48026707T>G

Select item 14906652353.

rs1490665235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:46601787 (GRCh38)
21:48021700 (GRCh37)
Canonical SPDI:: NC_000021.9:46601786:G:C
Gene:: S100B (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_000021.9:g.46601787G>C, NC_000021.8:g.48021700G>C

Select item 14905472014.

rs1490547201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:46600656 (GRCh38)
21:48020569 (GRCh37)
Canonical SPDI:: NC_000021.9:46600655:A:G
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.46600656A>G, NC_000021.8:g.48020569A>G

Select item 14902222015.

rs1490222201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46599778 (GRCh38)
21:48019691 (GRCh37)
Canonical SPDI:: NC_000021.9:46599777:C:T
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.46599778C>T, NC_000021.8:g.48019691C>T

Select item 14896901536.

rs1489690153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46606753 (GRCh38)
21:48026666 (GRCh37)
Canonical SPDI:: NC_000021.9:46606752:C:T
Gene:: S100B (Varview)
Functional Consequence:: 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_000021.9:g.46606753C>T, NC_000021.8:g.48026666C>T

Select item 14896667277.

rs1489666727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:46600223 (GRCh38)
21:48020136 (GRCh37)
Canonical SPDI:: NC_000021.9:46600222:A:C
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.46600223A>C, NC_000021.8:g.48020136A>C

Select item 14892800598.

rs1489280059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46602195 (GRCh38)
21:48022108 (GRCh37)
Canonical SPDI:: NC_000021.9:46602194:G:A
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.46602195G>A, NC_000021.8:g.48022108G>A

Select item 14890486859.

rs1489048685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:46602775 (GRCh38)
21:48022688 (GRCh37)
Canonical SPDI:: NC_000021.9:46602774:C:A,NC_000021.9:46602774:C:T
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.46602775C>A, NC_000021.9:g.46602775C>T, NC_000021.8:g.48022688C>A, NC_000021.8:g.48022688C>T

Select item 148884442110.

rs1488844421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:46599602 (GRCh38)
21:48019515 (GRCh37)
Canonical SPDI:: NC_000021.9:46599601:G:A,NC_000021.9:46599601:G:T
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46599602G>A, NC_000021.9:g.46599602G>T, NC_000021.8:g.48019515G>A, NC_000021.8:g.48019515G>T

Select item 148844531711.

rs1488445317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:46606804 (GRCh38)
21:48026717 (GRCh37)
Canonical SPDI:: NC_000021.9:46606803:G:T
Gene:: S100B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.46606804G>T, NC_000021.8:g.48026717G>T

Select item 148830056012.

rs1488300560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:46603256 (GRCh38)
21:48023169 (GRCh37)
Canonical SPDI:: NC_000021.9:46603255:G:A,NC_000021.9:46603255:G:C
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000086/12 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.46603256G>A, NC_000021.9:g.46603256G>C, NC_000021.8:g.48023169G>A, NC_000021.8:g.48023169G>C

Select item 148815127713.

rs1488151277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:46602338 (GRCh38)
21:48022251 (GRCh37)
Canonical SPDI:: NC_000021.9:46602337:G:A,NC_000021.9:46602337:G:T
Gene:: S100B (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.46602338G>A, NC_000021.9:g.46602338G>T, NC_000021.8:g.48022251G>A, NC_000021.8:g.48022251G>T, XM_017028424.3:c.78C>T, XM_017028424.3:c.78C>A, XM_017028424.2:c.78C>T, XM_017028424.2:c.78C>A, XM_017028424.1:c.78C>T, XM_017028424.1:c.78C>A, NM_006272.3:c.78C>T, NM_006272.3:c.78C>A, NM_006272.2:c.78C>T, NM_006272.2:c.78C>A, XP_016883913.1:p.His26Gln, NP_006263.1:p.His26Gln

Select item 148810954114.

rs1488109541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46604291 (GRCh38)
21:48024204 (GRCh37)
Canonical SPDI:: NC_000021.9:46604290:T:C
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.46604291T>C, NC_000021.8:g.48024204T>C

Select item 148743782515.

rs1487437825 has merged into rs1051563966 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 21:46598167 (GRCh38)
21:48018080 (GRCh37)
Canonical SPDI:: NC_000021.9:46598166:CCC:CC,NC_000021.9:46598166:CCC:CCCC
Gene:: S100B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.46598169del, NC_000021.9:g.46598169dup, NC_000021.8:g.48018082del, NC_000021.8:g.48018082dup

Select item 148719725016.

rs1487197250 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 21:46605397 (GRCh38)
21:48025310 (GRCh37)
Canonical SPDI:: NC_000021.9:46605390:GAGAGAGA:GAGAGA
Gene:: S100B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.46605391GA[3], NC_000021.8:g.48025304GA[3]

Select item 148705769417.

rs1487057694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:46599507 (GRCh38)
21:48019420 (GRCh37)
Canonical SPDI:: NC_000021.9:46599506:A:G
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000223/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.46599507A>G, NC_000021.8:g.48019420A>G

Select item 148650491618.

rs1486504916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:46603476 (GRCh38)
21:48023389 (GRCh37)
Canonical SPDI:: NC_000021.9:46603475:C:A
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.46603476C>A, NC_000021.8:g.48023389C>A

Select item 148638448119.

rs1486384481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46604912 (GRCh38)
21:48024825 (GRCh37)
Canonical SPDI:: NC_000021.9:46604911:C:T
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.46604912C>T, NC_000021.8:g.48024825C>T

Select item 148623999620.

rs1486239996 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTCTT>- [Show Flanks]
Chromosome:: 21:46603916 (GRCh38)
21:48023829 (GRCh37)
Canonical SPDI:: NC_000021.9:46603910:TTCTTATTCTT:TTCTT
Gene:: S100B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.46603916_46603921del, NC_000021.8:g.48023829_48023834del

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