SNP Links for Gene (Select 1628) - SNP

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Select item 14914078081.

rs1491407808 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 19:48638375 (GRCh38)
19:49141633 (GRCh37)
Canonical SPDI:: NC_000019.10:48638375::A,NC_000019.10:48638375::C
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.48638375_48638376insA, NC_000019.10:g.48638375_48638376insC, NC_000019.9:g.49141632_49141633insA, NC_000019.9:g.49141632_49141633insC, NR_136241.2:n.2028_2029insT, NR_136241.2:n.2028_2029insG, NR_136241.1:n.2153_2154insT, NR_136241.1:n.2153_2154insG

Select item 14910636462.

rs1491063646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:48636583 (GRCh38)
19:49139840 (GRCh37)
Canonical SPDI:: NC_000019.10:48636580:AGAG:AG
Gene:: DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.48636581AG[1], NC_000019.9:g.49139838AG[1]

Select item 14909367763.

rs1490936776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48630658 (GRCh38)
19:49133915 (GRCh37)
Canonical SPDI:: NC_000019.10:48630657:C:A
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48630658C>A, NC_000019.9:g.49133915C>A, NG_029867.1:g.16368C>A, NM_001352.5:c.*179G>T, NM_001352.4:c.*179G>T, NM_001352.3:c.*179G>T

Select item 14906785444.

rs1490678544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:48636506 (GRCh38)
19:49139764 (GRCh37)
Canonical SPDI:: NC_000019.10:48636506:T:TT
Gene:: DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48636507dup, NC_000019.9:g.49139764dup

Select item 14905999865.

rs1490599986 [Homo sapiens]

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

Select item 14902865556.

rs1490286555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48630893 (GRCh38)
19:49134150 (GRCh37)
Canonical SPDI:: NC_000019.10:48630892:G:A
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
A=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.48630893G>A, NC_000019.9:g.49134150G>A, NG_029867.1:g.16603G>A, NM_001352.5:c.922C>T, NM_001352.4:c.922C>T, NM_001352.3:c.922C>T

Select item 14897913667.

rs1489791366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:48630238 (GRCh38)
19:49133495 (GRCh37)
Canonical SPDI:: NC_000019.10:48630237:G:A,NC_000019.10:48630237:G:C
Gene:: DBP (Varview), SPHK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48630238G>A, NC_000019.10:g.48630238G>C, NC_000019.9:g.49133495G>A, NC_000019.9:g.49133495G>C, NG_029867.1:g.15948G>A, NG_029867.1:g.15948G>C, NM_020126.5:c.*465G>A, NM_020126.5:c.*465G>C, NM_020126.4:c.*465G>A, NM_020126.4:c.*465G>C, NM_001204159.3:c.*465G>A, NM_001204159.3:c.*465G>C, NM_001204159.2:c.*465G>A, NM_001204159.2:c.*465G>C, NM_001204160.3:c.*465G>A, NM_001204160.3:c.*465G>C, NM_001204160.2:c.*465G>A, NM_001204160.2:c.*465G>C, NM_001204158.3:c.*465G>A, NM_001204158.3:c.*465G>C, NM_001204158.2:c.*465G>A, NM_001204158.2:c.*465G>C, NM_001243876.2:c.*465G>A, NM_001243876.2:c.*465G>C, NM_001243876.1:c.*465G>A, NM_001243876.1:c.*465G>C, NM_001352.5:c.*599C>T, NM_001352.5:c.*599C>G, XM_017027010.3:c.*1466G>A, XM_017027010.3:c.*1466G>C, XM_017027010.2:c.*1466G>A, XM_017027010.2:c.*1466G>C, XM_017027010.1:c.*1466G>A, XM_017027010.1:c.*1466G>C, XM_017027008.2:c.*465G>A, XM_017027008.2:c.*465G>C, XM_017027008.1:c.*465G>A, XM_017027008.1:c.*465G>C, XM_011527133.2:c.*465G>A, XM_011527133.2:c.*465G>C, XM_011527133.1:c.*465G>A, XM_011527133.1:c.*465G>C, XM_011527134.2:c.*465G>A, XM_011527134.2:c.*465G>C, XM_011527134.1:c.*465G>A, XM_011527134.1:c.*465G>C, XM_006723292.2:c.*465G>A, XM_006723292.2:c.*465G>C, XM_006723292.1:c.*465G>A, XM_006723292.1:c.*465G>C, XM_047439107.1:c.*1466G>A, XM_047439107.1:c.*1466G>C, XM_047439108.1:c.*1466G>A, XM_047439108.1:c.*1466G>C, XM_047439106.1:c.*465G>A, XM_047439106.1:c.*465G>C

Select item 14897690658.

rs1489769065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48639223 (GRCh38)
19:49142480 (GRCh37)
Canonical SPDI:: NC_000019.10:48639222:G:C
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.48639223G>C, NC_000019.9:g.49142480G>C

Select item 14894737819.

rs1489473781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48636965 (GRCh38)
19:49140222 (GRCh37)
Canonical SPDI:: NC_000019.10:48636964:C:A
Gene:: DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48636965C>A, NC_000019.9:g.49140222C>A, NM_001352.5:c.30G>T, NM_001352.4:c.30G>T, NM_001352.3:c.30G>T

Select item 148945596210.

rs1489455962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:48639028 (GRCh38)
19:49142285 (GRCh37)
Canonical SPDI:: NC_000019.10:48639027:T:A
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,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_000019.10:g.48639028T>A, NC_000019.9:g.49142285T>A, NM_001217.5:c.821A>T, NM_001217.4:c.821A>T, NM_001217.3:c.821A>T, NR_136241.2:n.1376A>T, NR_136241.1:n.1501A>T, NP_001208.2:p.Gln274Leu

Select item 148931450111.

rs1489314501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48638336 (GRCh38)
19:49141593 (GRCh37)
Canonical SPDI:: NC_000019.10:48638335:C:A
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.48638336C>A, NC_000019.9:g.49141593C>A, NR_136241.2:n.2068G>T, NR_136241.1:n.2193G>T

Select item 148902830312.

rs1489028303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48639134 (GRCh38)
19:49142391 (GRCh37)
Canonical SPDI:: NC_000019.10:48639133:G:A
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48639134G>A, NC_000019.9:g.49142391G>A

Select item 148870997013.

rs1488709970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48638860 (GRCh38)
19:49142117 (GRCh37)
Canonical SPDI:: NC_000019.10:48638859:C:T
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.48638860C>T, NC_000019.9:g.49142117C>T, NR_136241.2:n.1544G>A, NR_136241.1:n.1669G>A

Select item 148851750914.

rs1488517509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48638091 (GRCh38)
19:49141348 (GRCh37)
Canonical SPDI:: NC_000019.10:48638090:G:A
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48638091G>A, NC_000019.9:g.49141348G>A, NM_001217.5:c.*28C>T, NM_001217.4:c.*28C>T, NM_001217.3:c.*28C>T, NR_004401.2:n.53G>A, NR_136241.2:n.2218C>T, NR_136241.1:n.2343C>T

Select item 148849410415.

rs1488494104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48635951 (GRCh38)
19:49139208 (GRCh37)
Canonical SPDI:: NC_000019.10:48635950:G:A
Gene:: DBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000019.10:g.48635951G>A, NC_000019.9:g.49139208G>A, NM_001352.5:c.179C>T, NM_001352.4:c.179C>T, NM_001352.3:c.179C>T, NP_001343.2:p.Ala60Val

Select item 148751144516.

rs1487511445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48635476 (GRCh38)
19:49138733 (GRCh37)
Canonical SPDI:: NC_000019.10:48635475:G:A
Gene:: DBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48635476G>A, NC_000019.9:g.49138733G>A

Select item 148742498317.

rs1487424983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48631081 (GRCh38)
19:49134338 (GRCh37)
Canonical SPDI:: NC_000019.10:48631080:G:A
Gene:: DBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48631081G>A, NC_000019.9:g.49134338G>A, NG_029867.1:g.16791G>A

Select item 148739551018.

rs1487395510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48636697 (GRCh38)
19:49139954 (GRCh37)
Canonical SPDI:: NC_000019.10:48636696:T:C
Gene:: DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.48636697T>C, NC_000019.9:g.49139954T>C

Select item 148702629319.

rs1487026293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48638021 (GRCh38)
19:49141278 (GRCh37)
Canonical SPDI:: NC_000019.10:48638020:G:T
Gene:: CA11 (Varview), DBP (Varview), SEC1P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,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)
HGVS:: NC_000019.10:g.48638021G>T, NC_000019.9:g.49141278G>T, NM_001217.5:c.*98C>A, NM_001217.4:c.*98C>A, NM_001217.3:c.*98C>A, NR_136241.2:n.2288C>A, NR_136241.1:n.2413C>A

Select item 148684711320.

rs1486847113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48636840 (GRCh38)
19:49140097 (GRCh37)
Canonical SPDI:: NC_000019.10:48636839:G:A
Gene:: DBP (Varview), SEC1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48636840G>A, NC_000019.9:g.49140097G>A