SNP Links for Gene (Select 29785) - SNP

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Select item 14915467081.

rs1491546708 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTCTTC,TTTTCTTC [Show Flanks]
Chromosome:: 19:41205345 (GRCh38)
19:41711251 (GRCh37)
Canonical SPDI:: NC_000019.10:41205345::TTTCTTC,NC_000019.10:41205345::TTTTCTTC
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTC=0./0 (ALFA)
TTTCTTC=0.00002/2 (GnomAD)
HGVS:: NC_000019.10:g.41205345_41205346insTTTCTTC, NC_000019.10:g.41205345_41205346insTTTTCTTC, NC_000019.9:g.41711250_41711251insTTTCTTC, NC_000019.9:g.41711250_41711251insTTTTCTTC, NG_007933.3:g.17136_17137insTTTCTTC, NG_007933.3:g.17136_17137insTTTTCTTC

Select item 14914670472.

rs1491467047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 19:41205352 (GRCh38)
19:41711257 (GRCh37)
Canonical SPDI:: NC_000019.10:41205350:TTT:T,NC_000019.10:41205350:TTT:TTTT
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.41205352_41205353del, NC_000019.10:g.41205353dup, NC_000019.9:g.41711257_41711258del, NC_000019.9:g.41711258dup, NG_007933.3:g.17143_17144del, NG_007933.3:g.17144dup

Select item 14912627103.

rs1491262710 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 19:41205346 (GRCh38)
19:41711251 (GRCh37)
Canonical SPDI:: NC_000019.10:41205344:TCT:T,NC_000019.10:41205344:TCT:TCTCT
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000019.10:g.41205346_41205347del, NC_000019.10:g.41205346_41205347dup, NC_000019.9:g.41711251_41711252del, NC_000019.9:g.41711251_41711252dup, NG_007933.3:g.17137_17138del, NG_007933.3:g.17137_17138dup

Select item 14912403064.

rs1491240306 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:41205351 (GRCh38)
19:41711257 (GRCh37)
Canonical SPDI:: NC_000019.10:41205351::C
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
C=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.41205351_41205352insC, NC_000019.9:g.41711256_41711257insC, NG_007933.3:g.17142_17143insC

Select item 14911826395.

rs1491182639 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 19:41204593 (GRCh38)
19:41710499 (GRCh37)
Canonical SPDI:: NC_000019.10:41204593:T:TCT
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000019.10:g.41204594_41204595insCT, NC_000019.9:g.41710499_41710500insCT, NG_007933.3:g.16385_16386insCT

Select item 14910869116.

rs1491086911 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:41204594 (GRCh38)
19:41710500 (GRCh37)
Canonical SPDI:: NC_000019.10:41204594::C
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.41204594_41204595insC, NC_000019.9:g.41710499_41710500insC, NG_007933.3:g.16385_16386insC

Select item 14910250477.

rs1491025047 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:41205359 (GRCh38)
19:41711265 (GRCh37)
Canonical SPDI:: NC_000019.10:41205359::C
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00021/3 (TOMMO)
HGVS:: NC_000019.10:g.41205359_41205360insC, NC_000019.9:g.41711264_41711265insC, NG_007933.3:g.17150_17151insC

Select item 14904998368.

rs1490499836 has merged into rs1555727559 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTCT>-,CTTTCTCTTTCT [Show Flanks]
Chromosome:: 19:41205354 (GRCh38)
19:41711259 (GRCh37)
Canonical SPDI:: NC_000019.10:41205352:TCTTTCT:T,NC_000019.10:41205352:TCTTTCT:TCTTTCTCTTTCT
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTCTCTTTCT=0./0 (ALFA)
TCTTTC=0.000004/1 (TOPMED)
TCTTTC=0.000011/1 (GnomAD)
HGVS:: NC_000019.10:g.41205354_41205359del, NC_000019.10:g.41205354_41205359dup, NC_000019.9:g.41711259_41711264del, NC_000019.9:g.41711259_41711264dup, NG_007933.3:g.17145_17150del, NG_007933.3:g.17145_17150dup

Select item 14904400599.

rs1490440059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:41193886 (GRCh38)
19:41699791 (GRCh37)
Canonical SPDI:: NC_000019.10:41193885:A:T
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41193886A>T, NC_000019.9:g.41699791A>T, NG_007933.3:g.5677A>T

Select item 149033544010.

rs1490335440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41205263 (GRCh38)
19:41711168 (GRCh37)
Canonical SPDI:: NC_000019.10:41205262:A:G
Gene:: CYP2S1 (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_000019.10:g.41205263A>G, NC_000019.9:g.41711168A>G, NG_007933.3:g.17054A>G

Select item 149015203911.

rs1490152039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41197271 (GRCh38)
19:41703176 (GRCh37)
Canonical SPDI:: NC_000019.10:41197270:T:C
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41197271T>C, NC_000019.9:g.41703176T>C, NG_007933.3:g.9062T>C

Select item 149014121112.

rs1490141211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:41193585 (GRCh38)
19:41699490 (GRCh37)
Canonical SPDI:: NC_000019.10:41193584:G:C
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41193585G>C, NC_000019.9:g.41699490G>C, NG_007933.3:g.5376G>C

Select item 148959826113.

rs1489598261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:41204407 (GRCh38)
19:41710312 (GRCh37)
Canonical SPDI:: NC_000019.10:41204406:C:A,NC_000019.10:41204406:C:T
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.41204407C>A, NC_000019.10:g.41204407C>T, NC_000019.9:g.41710312C>A, NC_000019.9:g.41710312C>T, NG_007933.3:g.16198C>A, NG_007933.3:g.16198C>T

Select item 148945665514.

rs1489456655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41206876 (GRCh38)
19:41712781 (GRCh37)
Canonical SPDI:: NC_000019.10:41206875:C:T
Gene:: CYP2S1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.41206876C>T, NC_000019.9:g.41712781C>T, NG_007933.3:g.18667C>T, NM_030622.8:c.*388C>T, NM_030622.7:c.*388C>T, NM_030622.6:c.*388C>T

Select item 148938031115.

rs1489380311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:41206252 (GRCh38)
19:41712157 (GRCh37)
Canonical SPDI:: NC_000019.10:41206251:G:A,NC_000019.10:41206251:G:C
Gene:: CYP2S1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41206252G>A, NC_000019.10:g.41206252G>C, NC_000019.9:g.41712157G>A, NC_000019.9:g.41712157G>C, NG_007933.3:g.18043G>A, NG_007933.3:g.18043G>C

Select item 148921320716.

rs1489213207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41204307 (GRCh38)
19:41710212 (GRCh37)
Canonical SPDI:: NC_000019.10:41204306:T:C
Gene:: CYP2S1 (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_000019.10:g.41204307T>C, NC_000019.9:g.41710212T>C, NG_007933.3:g.16098T>C

Select item 148873439217.

rs1488734392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41200412 (GRCh38)
19:41706317 (GRCh37)
Canonical SPDI:: NC_000019.10:41200411:A:G
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41200412A>G, NC_000019.9:g.41706317A>G, NG_007933.3:g.12203A>G

Select item 148835089718.

rs1488350897 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:41205400 (GRCh38)
19:41711305 (GRCh37)
Canonical SPDI:: NC_000019.10:41205399:C:
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.41205400del, NC_000019.9:g.41711305del, NG_007933.3:g.17191del

Select item 148830416619.

rs1488304166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41193325 (GRCh38)
19:41699230 (GRCh37)
Canonical SPDI:: NC_000019.10:41193324:C:G
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_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_000019.10:g.41193325C>G, NC_000019.9:g.41699230C>G, NG_007933.3:g.5116C>G, NM_030622.8:c.61C>G, NM_030622.7:c.61C>G, NM_030622.6:c.61C>G, XM_047438711.1:c.61C>G, NP_085125.1:p.Leu21Val, XP_047294667.1:p.Leu21Val

Select item 148819135620.

rs1488191356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:41195058 (GRCh38)
19:41700963 (GRCh37)
Canonical SPDI:: NC_000019.10:41195057:G:T
Gene:: CYP2S1 (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_000019.10:g.41195058G>T, NC_000019.9:g.41700963G>T, NG_007933.3:g.6849G>T

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