SNP Links for Gene (Select 1581) - SNP

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Links from Gene

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Select item 14909660431.

rs1490966043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58499328 (GRCh38)
8:59411887 (GRCh37)
Canonical SPDI:: NC_000008.11:58499327:G:A
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58499328G>A, NC_000008.10:g.59411887G>A, NG_007969.1:g.5835C>T, NG_055430.1:g.983G>A

Select item 14909400082.

rs1490940008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58500466 (GRCh38)
8:59413025 (GRCh37)
Canonical SPDI:: NC_000008.11:58500465:G:A
Gene:: CYP7A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.58500466G>A, NC_000008.10:g.59413025G>A, NG_007969.1:g.4697C>T, NG_055430.1:g.2121G>A

Select item 14908901883.

rs1490890188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:58501482 (GRCh38)
8:59414041 (GRCh37)
Canonical SPDI:: NC_000008.11:58501481:C:T
Gene:: CYP7A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58501482C>T, NC_000008.10:g.59414041C>T, NG_007969.1:g.3681G>A, NG_055430.1:g.3137C>T

Select item 14907547794.

rs1490754779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:58494546 (GRCh38)
8:59407105 (GRCh37)
Canonical SPDI:: NC_000008.11:58494545:A:C
Gene:: CYP7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.58494546A>C, NC_000008.10:g.59407105A>C, NG_007969.1:g.10617T>G, NM_000780.4:c.999T>G, NM_000780.3:c.999T>G, NP_000771.2:p.Ile333Met

Select item 14906003275.

rs1490600327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:58500455 (GRCh38)
8:59413014 (GRCh37)
Canonical SPDI:: NC_000008.11:58500454:T:G
Gene:: CYP7A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.58500455T>G, NC_000008.10:g.59413014T>G, NG_007969.1:g.4708A>C, NG_055430.1:g.2110T>G

Select item 14905905586.

rs1490590558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:58492170 (GRCh38)
8:59404729 (GRCh37)
Canonical SPDI:: NC_000008.11:58492169:G:A,NC_000008.11:58492169:G:T
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.58492170G>A, NC_000008.11:g.58492170G>T, NC_000008.10:g.59404729G>A, NC_000008.10:g.59404729G>T, NG_007969.1:g.12993C>T, NG_007969.1:g.12993C>A

Select item 14904744497.

rs1490474449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:58498803 (GRCh38)
8:59411362 (GRCh37)
Canonical SPDI:: NC_000008.11:58498802:G:C
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_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_000008.11:g.58498803G>C, NC_000008.10:g.59411362G>C, NG_007969.1:g.6360C>G, NG_055430.1:g.458G>C

Select item 14902612198.

rs1490261219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58493192 (GRCh38)
8:59405751 (GRCh37)
Canonical SPDI:: NC_000008.11:58493191:G:A
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_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_000008.11:g.58493192G>A, NC_000008.10:g.59405751G>A, NG_007969.1:g.11971C>T

Select item 14896161769.

rs1489616176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58493791 (GRCh38)
8:59406350 (GRCh37)
Canonical SPDI:: NC_000008.11:58493790:G:A
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_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_000008.11:g.58493791G>A, NC_000008.10:g.59406350G>A, NG_007969.1:g.11372C>T

Select item 148919811310.

rs1489198113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:58497841 (GRCh38)
8:59410400 (GRCh37)
Canonical SPDI:: NC_000008.11:58497840:A:G
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.58497841A>G, NC_000008.10:g.59410400A>G, NG_007969.1:g.7322T>C

Select item 148918878611.

rs1489188786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:58498144 (GRCh38)
8:59410703 (GRCh37)
Canonical SPDI:: NC_000008.11:58498143:C:T
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.58498144C>T, NC_000008.10:g.59410703C>T, NG_007969.1:g.7019G>A

Select item 148871341212.

rs1488713412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58501115 (GRCh38)
8:59413674 (GRCh37)
Canonical SPDI:: NC_000008.11:58501114:G:A
Gene:: CYP7A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.58501115G>A, NC_000008.10:g.59413674G>A, NG_007969.1:g.4048C>T, NG_055430.1:g.2770G>A

Select item 148786944513.

rs1487869445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:58490468 (GRCh38)
8:59403027 (GRCh37)
Canonical SPDI:: NC_000008.11:58490467:C:T
Gene:: CYP7A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.58490468C>T, NC_000008.10:g.59403027C>T, NG_007969.1:g.14695G>A, NM_000780.4:c.*1007G>A, NM_000780.3:c.*1007G>A

Select item 148779703814.

rs1487797038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:58492604 (GRCh38)
8:59405163 (GRCh37)
Canonical SPDI:: NC_000008.11:58492603:T:A
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.58492604T>A, NC_000008.10:g.59405163T>A, NG_007969.1:g.12559A>T

Select item 148746784215.

rs1487467842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:58490342 (GRCh38)
8:59402901 (GRCh37)
Canonical SPDI:: NC_000008.11:58490341:A:G
Gene:: CYP7A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58490342A>G, NC_000008.10:g.59402901A>G, NG_007969.1:g.14821T>C, NM_000780.4:c.*1133T>C, NM_000780.3:c.*1133T>C

Select item 148635387816.

rs1486353878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:58495505 (GRCh38)
8:59408064 (GRCh37)
Canonical SPDI:: NC_000008.11:58495504:G:C
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58495505G>C, NC_000008.10:g.59408064G>C, NG_007969.1:g.9658C>G

Select item 148631945817.

rs1486319458 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>- [Show Flanks]
Chromosome:: 8:58496164 (GRCh38)
8:59408723 (GRCh37)
Canonical SPDI:: NC_000008.11:58496161:AACAAA:AA
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.58496164_58496167del, NC_000008.10:g.59408723_59408726del, NG_007969.1:g.8998_9001del

Select item 148609462218.

rs1486094622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:58493163 (GRCh38)
8:59405722 (GRCh37)
Canonical SPDI:: NC_000008.11:58493162:A:C,NC_000008.11:58493162:A:G
Gene:: CYP7A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.58493163A>C, NC_000008.11:g.58493163A>G, NC_000008.10:g.59405722A>C, NC_000008.10:g.59405722A>G, NG_007969.1:g.12000T>G, NG_007969.1:g.12000T>C

Select item 148602276319.

rs1486022763 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:58490279 (GRCh38)
8:59402838 (GRCh37)
Canonical SPDI:: NC_000008.11:58490278:TTT:TT
Gene:: CYP7A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000008.11:g.58490281del, NC_000008.10:g.59402840del, NG_007969.1:g.14884del, NM_000780.4:c.*1196del, NM_000780.3:c.*1196del

Select item 148588402620.

rs1485884026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:58491748 (GRCh38)
8:59404307 (GRCh37)
Canonical SPDI:: NC_000008.11:58491747:A:G
Gene:: CYP7A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58491748A>G, NC_000008.10:g.59404307A>G, NG_007969.1:g.13415T>C, NM_000780.4:c.1242T>C, NM_000780.3:c.1242T>C

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