SNP Links for Gene (Select 51102) - SNP

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Select item 14915684241.

rs1491568424 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:29217127 (GRCh38)
1:29543639 (GRCh37)
Canonical SPDI:: NC_000001.11:29217126:CA:
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00582/69 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000001.11:g.29217127_29217128del, NC_000001.10:g.29543639_29543640del, NG_053058.1:g.18831_18832del

Select item 14914924912.

rs1491492491 has merged into rs1195549293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:29217139 (GRCh38)
1:29543651 (GRCh37)
Canonical SPDI:: NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:29217127:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.29217139_29217153del, NC_000001.11:g.29217140_29217153del, NC_000001.11:g.29217141_29217153del, NC_000001.11:g.29217142_29217153del, NC_000001.11:g.29217143_29217153del, NC_000001.11:g.29217144_29217153del, NC_000001.11:g.29217145_29217153del, NC_000001.11:g.29217146_29217153del, NC_000001.11:g.29217147_29217153del, NC_000001.11:g.29217148_29217153del, NC_000001.11:g.29217149_29217153del, NC_000001.11:g.29217150_29217153del, NC_000001.11:g.29217151_29217153del, NC_000001.11:g.29217152_29217153del, NC_000001.11:g.29217153del, NC_000001.11:g.29217153dup, NC_000001.11:g.29217152_29217153dup, NC_000001.11:g.29217151_29217153dup, NC_000001.11:g.29217150_29217153dup, NC_000001.11:g.29217149_29217153dup, NC_000001.11:g.29217148_29217153dup, NC_000001.11:g.29217147_29217153dup, NC_000001.10:g.29543651_29543665del, NC_000001.10:g.29543652_29543665del, NC_000001.10:g.29543653_29543665del, NC_000001.10:g.29543654_29543665del, NC_000001.10:g.29543655_29543665del, NC_000001.10:g.29543656_29543665del, NC_000001.10:g.29543657_29543665del, NC_000001.10:g.29543658_29543665del, NC_000001.10:g.29543659_29543665del, NC_000001.10:g.29543660_29543665del, NC_000001.10:g.29543661_29543665del, NC_000001.10:g.29543662_29543665del, NC_000001.10:g.29543663_29543665del, NC_000001.10:g.29543664_29543665del, NC_000001.10:g.29543665del, NC_000001.10:g.29543665dup, NC_000001.10:g.29543664_29543665dup, NC_000001.10:g.29543663_29543665dup, NC_000001.10:g.29543662_29543665dup, NC_000001.10:g.29543661_29543665dup, NC_000001.10:g.29543660_29543665dup, NC_000001.10:g.29543659_29543665dup, NG_053058.1:g.18817_18831del, NG_053058.1:g.18818_18831del, NG_053058.1:g.18819_18831del, NG_053058.1:g.18820_18831del, NG_053058.1:g.18821_18831del, NG_053058.1:g.18822_18831del, NG_053058.1:g.18823_18831del, NG_053058.1:g.18824_18831del, NG_053058.1:g.18825_18831del, NG_053058.1:g.18826_18831del, NG_053058.1:g.18827_18831del, NG_053058.1:g.18828_18831del, NG_053058.1:g.18829_18831del, NG_053058.1:g.18830_18831del, NG_053058.1:g.18831del, NG_053058.1:g.18831dup, NG_053058.1:g.18830_18831dup, NG_053058.1:g.18829_18831dup, NG_053058.1:g.18828_18831dup, NG_053058.1:g.18827_18831dup, NG_053058.1:g.18826_18831dup, NG_053058.1:g.18825_18831dup

Select item 14914241773.

rs1491424177 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:29226167 (GRCh38)
1:29552679 (GRCh37)
Canonical SPDI:: NC_000001.11:29226166:TA:
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00236/28 (ALFA)
HGVS:: NC_000001.11:g.29226167_29226168del, NC_000001.10:g.29552679_29552680del, NG_053058.1:g.9791_9792del

Select item 14912343724.

rs1491234372 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:29227150 (GRCh38)
1:29553662 (GRCh37)
Canonical SPDI:: NC_000001.11:29227146:AGAGA:AGA
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.29227148GA[1], NC_000001.10:g.29553660GA[1], NG_053058.1:g.8809CT[1]

Select item 14911412165.

rs1491141216 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAA [Show Flanks]
Chromosome:: 1:29226167 (GRCh38)
1:29552680 (GRCh37)
Canonical SPDI:: NC_000001.11:29226167::G,NC_000001.11:29226167::GAA
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.29226167_29226168insG, NC_000001.11:g.29226167_29226168insGAA, NC_000001.10:g.29552679_29552680insG, NC_000001.10:g.29552679_29552680insGAA, NG_053058.1:g.9791_9792insC, NG_053058.1:g.9791_9792insTTC

Select item 14911099546.

rs1491109954 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGACAGGGTTTCG [Show Flanks]
Chromosome:: 1:29227147 (GRCh38)
1:29553660 (GRCh37)
Canonical SPDI:: NC_000001.11:29227147:GAGACAGGGTTTCG:GAGACAGGGTTTCGGAGACAGGGTTTCG
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGACAGGGTTTCGGAGACAGGGTTTCG=0./0 (ALFA)
GAGACAGGGTTTCG=0.000014/2 (GnomAD)
GAGACAGGGTTTCG=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.29227148_29227161dup, NC_000001.10:g.29553660_29553673dup, NG_053058.1:g.8798_8811dup

Select item 14909397577.

rs1490939757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:29227075 (GRCh38)
1:29553587 (GRCh37)
Canonical SPDI:: NC_000001.11:29227074:T:C
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_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_000001.11:g.29227075T>C, NC_000001.10:g.29553587T>C, NG_053058.1:g.8884A>G

Select item 14907834548.

rs1490783454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:29203198 (GRCh38)
1:29529710 (GRCh37)
Canonical SPDI:: NC_000001.11:29203197:C:A
Gene:: MECR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.29203198C>A, NC_000001.10:g.29529710C>A, NG_053058.1:g.32761G>T, NM_016011.5:c.586G>T, NM_016011.4:c.586G>T, NM_016011.3:c.586G>T, NM_016011.2:c.586G>T, NM_001024732.4:c.358G>T, NM_001024732.3:c.358G>T, NM_001024732.2:c.358G>T, NM_001024732.1:c.358G>T, NM_001349712.2:c.358G>T, NM_001349712.1:c.358G>T, NM_001349711.2:c.358G>T, NM_001349711.1:c.358G>T, NR_146212.2:n.741G>T, NR_146212.1:n.765G>T, NM_001349713.2:c.358G>T, NM_001349713.1:c.358G>T, NM_001349714.2:c.358G>T, NM_001349714.1:c.358G>T, NM_001349715.2:c.691G>T, NM_001349715.1:c.691G>T, NM_001349716.2:c.670G>T, NM_001349716.1:c.670G>T, NM_001349717.2:c.436G>T, NM_001349717.1:c.436G>T, NR_146215.2:n.741G>T, NR_146215.1:n.765G>T, NR_146213.2:n.614G>T, NR_146213.1:n.638G>T, XR_946663.3:n.698G>T, XR_946663.2:n.688G>T, XR_946663.1:n.688G>T, XM_011541540.3:c.586G>T, XM_011541540.2:c.586G>T, XM_011541540.1:c.586G>T, XM_011541546.2:c.358G>T, XM_011541546.1:c.358G>T, XM_011541539.2:c.670G>T, XM_011541539.1:c.670G>T, XM_011541541.2:c.670G>T, XM_011541541.1:c.670G>T, XR_007060747.1:n.698G>T, XR_007060748.1:n.614G>T, XM_047422051.1:c.358G>T, XM_047422042.1:c.586G>T, NP_057095.4:p.Val196Leu, NP_001019903.3:p.Val120Leu, NP_001336641.1:p.Val120Leu, NP_001336640.1:p.Val120Leu, NP_001336642.1:p.Val120Leu, NP_001336643.1:p.Val120Leu, NP_001336644.1:p.Val231Leu, NP_001336645.1:p.Val224Leu, NP_001336646.1:p.Val146Leu, XP_011539842.1:p.Val196Leu, XP_011539848.1:p.Val120Leu, XP_011539841.1:p.Val224Leu, XP_011539843.1:p.Val224Leu, XP_047278007.1:p.Val120Leu, XP_047277998.1:p.Val196Leu

Select item 14907406739.

rs1490740673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:29219497 (GRCh38)
1:29546009 (GRCh37)
Canonical SPDI:: NC_000001.11:29219496:C:G
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.29219497C>G, NC_000001.10:g.29546009C>G, NG_053058.1:g.16462G>C

Select item 149072704810.

rs1490727048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:29204440 (GRCh38)
1:29530952 (GRCh37)
Canonical SPDI:: NC_000001.11:29204439:A:T
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.29204440A>T, NC_000001.10:g.29530952A>T, NG_053058.1:g.31519T>A

Select item 149066535311.

rs1490665353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:29197766 (GRCh38)
1:29524278 (GRCh37)
Canonical SPDI:: NC_000001.11:29197765:A:G
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.29197766A>G, NC_000001.10:g.29524278A>G, NG_053058.1:g.38193T>C

Select item 149065338812.

rs1490653388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:29232269 (GRCh38)
1:29558781 (GRCh37)
Canonical SPDI:: NC_000001.11:29232268:A:G
Gene:: MECR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.29232269A>G, NC_000001.10:g.29558781A>G, NG_033965.1:g.754A>G, NG_053058.1:g.3690T>C

Select item 149059947313.

rs1490599473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:29194922 (GRCh38)
1:29521434 (GRCh37)
Canonical SPDI:: NC_000001.11:29194921:C:A
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.29194922C>A, NC_000001.10:g.29521434C>A, NG_053058.1:g.41037G>T

Select item 149050470614.

rs1490504706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:29211923 (GRCh38)
1:29538435 (GRCh37)
Canonical SPDI:: NC_000001.11:29211922:C:T
Gene:: MECR (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_000001.11:g.29211923C>T, NC_000001.10:g.29538435C>T, NG_053058.1:g.24036G>A

Select item 149044601415.

rs1490446014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:29227610 (GRCh38)
1:29554122 (GRCh37)
Canonical SPDI:: NC_000001.11:29227609:C:T
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.29227610C>T, NC_000001.10:g.29554122C>T, NG_053058.1:g.8349G>A

Select item 149043762716.

rs1490437627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:29213006 (GRCh38)
1:29539518 (GRCh37)
Canonical SPDI:: NC_000001.11:29213005:A:G
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.29213006A>G, NC_000001.10:g.29539518A>G, NG_053058.1:g.22953T>C

Select item 149042979117.

rs1490429791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:29228592 (GRCh38)
1:29555104 (GRCh37)
Canonical SPDI:: NC_000001.11:29228591:A:C
Gene:: MECR (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000001.11:g.29228592A>C, NC_000001.10:g.29555104A>C, NG_053058.1:g.7367T>G

Select item 149039519518.

rs1490395195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:29213438 (GRCh38)
1:29539950 (GRCh37)
Canonical SPDI:: NC_000001.11:29213437:C:G
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.29213438C>G, NC_000001.10:g.29539950C>G, NG_053058.1:g.22521G>C

Select item 149038486919.

rs1490384869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:29211318 (GRCh38)
1:29537830 (GRCh37)
Canonical SPDI:: NC_000001.11:29211317:C:T
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00027/5 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.29211318C>T, NC_000001.10:g.29537830C>T, NG_053058.1:g.24641G>A

Select item 149024986720.

rs1490249867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:29220043 (GRCh38)
1:29546555 (GRCh37)
Canonical SPDI:: NC_000001.11:29220042:G:A
Gene:: MECR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.29220043G>A, NC_000001.10:g.29546555G>A, NG_053058.1:g.15916C>T

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