SNP Links for Gene (Select 126661) - SNP

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Items: 1 to 20 of 2197

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Select item 14906671711.

rs1490667171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45501707 (GRCh38)
1:45967379 (GRCh37)
Canonical SPDI:: NC_000001.11:45501706:G:A
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45501707G>A, NC_000001.10:g.45967379G>A, NG_013378.1:g.6524G>A

Select item 14899525802.

rs1489952580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:45493757 (GRCh38)
1:45959429 (GRCh37)
Canonical SPDI:: NC_000001.11:45493756:T:C,NC_000001.11:45493756:T:G
Gene:: CCDC163 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.45493757T>C, NC_000001.11:g.45493757T>G, NC_000001.10:g.45959429T>C, NC_000001.10:g.45959429T>G

Select item 14895303093.

rs1489530309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:45501465 (GRCh38)
1:45967137 (GRCh37)
Canonical SPDI:: NC_000001.11:45501464:T:A
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.45501465T>A, NC_000001.10:g.45967137T>A, NG_013378.1:g.6282T>A

Select item 14884485224.

rs1488448522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:45497691 (GRCh38)
1:45963363 (GRCh37)
Canonical SPDI:: NC_000001.11:45497690:C:A,NC_000001.11:45497690:C:G,NC_000001.11:45497690:C:T
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.3171/834 (KOREAN)
C=0.3472/25 (SGDP_PRJ)
HGVS:: NC_000001.11:g.45497691C>A, NC_000001.11:g.45497691C>G, NC_000001.11:g.45497691C>T, NC_000001.10:g.45963363C>A, NC_000001.10:g.45963363C>G, NC_000001.10:g.45963363C>T, NG_013378.1:g.2508C>A, NG_013378.1:g.2508C>G, NG_013378.1:g.2508C>T

Select item 14882182125.

rs1488218212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:45496602 (GRCh38)
1:45962274 (GRCh37)
Canonical SPDI:: NC_000001.11:45496601:A:T
Gene:: CCDC163 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45496602A>T, NC_000001.10:g.45962274A>T, NG_013378.1:g.1419A>T, NR_033298.3:n.748T>A, NR_033298.2:n.754T>A, NR_033298.1:n.754T>A, NR_033297.3:n.663T>A, NR_033297.2:n.669T>A, NR_033297.1:n.669T>A, NM_001102601.3:c.284T>A, NM_001102601.2:c.284T>A, NM_001102601.1:c.284T>A, NR_152414.2:n.743T>A, NR_152414.1:n.749T>A, NM_001358406.2:c.284T>A, NM_001358406.1:c.284T>A, NR_152411.2:n.660T>A, NR_152411.1:n.666T>A, NR_152413.2:n.484T>A, NR_152413.1:n.490T>A, XM_047444595.1:c.281T>A, NR_033296.1:n.754T>A, XM_047444605.1:c.281T>A, NP_001096071.1:p.Leu95Gln, NP_001345335.1:p.Leu95Gln, XP_047300551.1:p.Leu94Gln, XP_047300561.1:p.Leu94Gln

Select item 14881683056.

rs1488168305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45495639 (GRCh38)
1:45961311 (GRCh37)
Canonical SPDI:: NC_000001.11:45495638:C:T
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_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_000001.11:g.45495639C>T, NC_000001.10:g.45961311C>T, NG_013378.1:g.456C>T

Select item 14879383557.

rs1487938355 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:45498933 (GRCh38)
1:45964605 (GRCh37)
Canonical SPDI:: NC_000001.11:45498932:G:
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.45498933del, NC_000001.10:g.45964605del, NG_013378.1:g.3750del

Select item 14876508558.

rs1487650855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45496970 (GRCh38)
1:45962642 (GRCh37)
Canonical SPDI:: NC_000001.11:45496969:G:A
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000071/10 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.45496970G>A, NC_000001.10:g.45962642G>A, NG_013378.1:g.1787G>A

Select item 14876403189.

rs1487640318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45501362 (GRCh38)
1:45967034 (GRCh37)
Canonical SPDI:: NC_000001.11:45501361:G:A
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45501362G>A, NC_000001.10:g.45967034G>A, NG_013378.1:g.6179G>A

Select item 148746461810.

rs1487464618 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:45498049 (GRCh38)
1:45963721 (GRCh37)
Canonical SPDI:: NC_000001.11:45498048:T:
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.45498049del, NC_000001.10:g.45963721del, NG_013378.1:g.2866del

Select item 148734157711.

rs1487341577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45501134 (GRCh38)
1:45966806 (GRCh37)
Canonical SPDI:: NC_000001.11:45501133:A:G
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.45501134A>G, NC_000001.10:g.45966806A>G, NG_013378.1:g.5951A>G

Select item 148731172812.

rs1487311728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:45500230 (GRCh38)
1:45965902 (GRCh37)
Canonical SPDI:: NC_000001.11:45500229:C:G
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.45500230C>G, NC_000001.10:g.45965902C>G, NG_013378.1:g.5047C>G, NM_015506.2:c.-103C>G, NM_001330540.1:c.-325C>G

Select item 148728935913.

rs1487289359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:45498632 (GRCh38)
1:45964304 (GRCh37)
Canonical SPDI:: NC_000001.11:45498631:C:A,NC_000001.11:45498631:C:T
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000001.11:g.45498632C>A, NC_000001.11:g.45498632C>T, NC_000001.10:g.45964304C>A, NC_000001.10:g.45964304C>T, NG_013378.1:g.3449C>A, NG_013378.1:g.3449C>T

Select item 148634475414.

rs1486344754 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCCCGTCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCC>- [Show Flanks]
Chromosome:: 1:45497737 (GRCh38)
1:45963409 (GRCh37)
Canonical SPDI:: NC_000001.11:45497733:GCCGCCCCGTCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCC:GCC
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.45497737_45497781del, NC_000001.10:g.45963409_45963453del, NG_013378.1:g.2554_2598del

Select item 148611738915.

rs1486117389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45495629 (GRCh38)
1:45961301 (GRCh37)
Canonical SPDI:: NC_000001.11:45495628:C:T
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.45495629C>T, NC_000001.10:g.45961301C>T, NG_013378.1:g.446C>T

Select item 148578558216.

rs1485785582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45496860 (GRCh38)
1:45962532 (GRCh37)
Canonical SPDI:: NC_000001.11:45496859:A:G
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_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_000001.11:g.45496860A>G, NC_000001.10:g.45962532A>G, NG_013378.1:g.1677A>G

Select item 148549981217.

rs1485499812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:45499593 (GRCh38)
1:45965265 (GRCh37)
Canonical SPDI:: NC_000001.11:45499592:C:A,NC_000001.11:45499592:C:G
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45499593C>A, NC_000001.11:g.45499593C>G, NC_000001.10:g.45965265C>A, NC_000001.10:g.45965265C>G, NG_013378.1:g.4410C>A, NG_013378.1:g.4410C>G, NR_033298.3:n.481G>T, NR_033298.3:n.481G>C, NR_033298.2:n.487G>T, NR_033298.2:n.487G>C, NR_033298.1:n.487G>T, NR_033298.1:n.487G>C, NR_033297.3:n.481G>T, NR_033297.3:n.481G>C, NR_033297.2:n.487G>T, NR_033297.2:n.487G>C, NR_033297.1:n.487G>T, NR_033297.1:n.487G>C, NM_001102601.3:c.17G>T, NM_001102601.3:c.17G>C, NM_001102601.2:c.17G>T, NM_001102601.2:c.17G>C, NM_001102601.1:c.17G>T, NM_001102601.1:c.17G>C, NR_152414.2:n.481G>T, NR_152414.2:n.481G>C, NR_152414.1:n.487G>T, NR_152414.1:n.487G>C, NM_001358407.2:c.17G>T, NM_001358407.2:c.17G>C, NM_001358407.1:c.17G>T, NM_001358407.1:c.17G>C, XM_024453045.2:c.17G>T, XM_024453045.2:c.17G>C, XM_024453045.1:c.17G>T, XM_024453045.1:c.17G>C, NM_001358406.2:c.17G>T, NM_001358406.2:c.17G>C, NM_001358406.1:c.17G>T, NM_001358406.1:c.17G>C, NR_152411.2:n.481G>T, NR_152411.2:n.481G>C, NR_152411.1:n.487G>T, NR_152411.1:n.487G>C, NR_152412.2:n.481G>T, NR_152412.2:n.481G>C, NR_152412.1:n.487G>T, NR_152412.1:n.487G>C, NR_152413.2:n.217G>T, NR_152413.2:n.217G>C, NR_152413.1:n.223G>T, NR_152413.1:n.223G>C, XM_024453044.2:c.17G>T, XM_024453044.2:c.17G>C, XM_024453044.1:c.17G>T, XM_024453044.1:c.17G>C, XM_047444595.1:c.17G>T, XM_047444595.1:c.17G>C, NR_033296.1:n.487G>T, NR_033296.1:n.487G>C, XM_047444605.1:c.17G>T, XM_047444605.1:c.17G>C, NP_001096071.1:p.Ser6Ile, NP_001096071.1:p.Ser6Thr, NP_001345336.1:p.Ser6Ile, NP_001345336.1:p.Ser6Thr, XP_024308813.1:p.Ser6Ile, XP_024308813.1:p.Ser6Thr, NP_001345335.1:p.Ser6Ile, NP_001345335.1:p.Ser6Thr, XP_024308812.1:p.Ser6Ile, XP_024308812.1:p.Ser6Thr, XP_047300551.1:p.Ser6Ile, XP_047300551.1:p.Ser6Thr, XP_047300561.1:p.Ser6Ile, XP_047300561.1:p.Ser6Thr

Select item 148538748018.

rs1485387480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:45498309 (GRCh38)
1:45963981 (GRCh37)
Canonical SPDI:: NC_000001.11:45498308:C:A
Gene:: MMACHC (Varview), CCDC163 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45498309C>A, NC_000001.10:g.45963981C>A, NG_013378.1:g.3126C>A

Select item 148534634719.

rs1485346347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:45498185 (GRCh38)
1:45963857 (GRCh37)
Canonical SPDI:: NC_000001.11:45498184:T:A,NC_000001.11:45498184:T:C
Gene:: CCDC163 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.45498185T>A, NC_000001.11:g.45498185T>C, NC_000001.10:g.45963857T>A, NC_000001.10:g.45963857T>C, NG_013378.1:g.3002T>A, NG_013378.1:g.3002T>C

Select item 148518027620.

rs1485180276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45494879 (GRCh38)
1:45960551 (GRCh37)
Canonical SPDI:: NC_000001.11:45494878:G:A
Gene:: CCDC163 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.45494879G>A, NC_000001.10:g.45960551G>A, NR_033298.3:n.1210C>T, NR_033298.2:n.1216C>T, NR_033298.1:n.1216C>T, NR_033297.3:n.1125C>T, NR_033297.2:n.1131C>T, NR_033297.1:n.1131C>T, NM_001102601.3:c.*180C>T, NM_001102601.2:c.*180C>T, NR_152414.2:n.1205C>T, NR_152414.1:n.1211C>T, NM_001358407.2:c.*180C>T, NM_001358407.1:c.*180C>T, XM_024453045.2:c.*180C>T, XM_024453045.1:c.*180C>T, NM_001358406.2:c.*317C>T, NM_001358406.1:c.*317C>T, NR_152411.2:n.1122C>T, NR_152411.1:n.1128C>T, NR_152412.2:n.1057C>T, NR_152412.1:n.1063C>T, NR_152413.2:n.946C>T, NR_152413.1:n.952C>T, XM_024453044.2:c.*180C>T, XM_024453044.1:c.*180C>T, XM_047444595.1:c.*180C>T, NR_033296.1:n.1088C>T

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