SNP Links for Gene (Select 79568) - SNP

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Links from Gene

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Select item 14912245971.

rs1491224597 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:199957039 (GRCh38)
2:200821762 (GRCh37)
Canonical SPDI:: NC_000002.12:199957038:CT:
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.199957039_199957040del, NC_000002.11:g.200821762_200821763del

Select item 14907769612.

rs1490776961 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:199954366 (GRCh38)
2:200819090 (GRCh37)
Canonical SPDI:: NC_000002.12:199954366:G:GG
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.199954367dup, NC_000002.11:g.200819090dup

Select item 14906323293.

rs1490632329 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:199963838 (GRCh38)
2:200828561 (GRCh37)
Canonical SPDI:: NC_000002.12:199963837:C:
Gene:: MAIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.199963838del, NC_000002.11:g.200828561del, NM_024520.3:c.*27del, NM_024520.2:c.*27del, NR_161377.1:n.1219del, NM_001394955.1:c.*27del, NM_001369399.1:c.*77del

Select item 14905777774.

rs1490577777 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGA [Show Flanks]
Chromosome:: 2:199955262 (GRCh38)
2:200819986 (GRCh37)
Canonical SPDI:: NC_000002.12:199955262:AGTGA:AGTGAGTGA
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGTGAGTGA=0./0 (ALFA)
AGTG=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.199955264_199955267dup, NC_000002.11:g.200819987_200819990dup, NG_082783.1:g.230_233dup

Select item 14904839725.

rs1490483972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199963170 (GRCh38)
2:200827893 (GRCh37)
Canonical SPDI:: NC_000002.12:199963169:G:A
Gene:: MAIP1 (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_000002.12:g.199963170G>A, NC_000002.11:g.200827893G>A

Select item 14902525196.

rs1490252519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:199963792 (GRCh38)
2:200828515 (GRCh37)
Canonical SPDI:: NC_000002.12:199963791:A:G,NC_000002.12:199963791:A:T
Gene:: MAIP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.199963792A>G, NC_000002.12:g.199963792A>T, NC_000002.11:g.200828515A>G, NC_000002.11:g.200828515A>T, NM_024520.3:c.857A>G, NM_024520.3:c.857A>T, NM_024520.2:c.857A>G, NM_024520.2:c.857A>T, NR_161377.1:n.1173A>G, NR_161377.1:n.1173A>T, NM_001394955.1:c.857A>G, NM_001394955.1:c.857A>T, NM_001369399.1:c.*31A>G, NM_001369399.1:c.*31A>T, NP_078796.2:p.His286Arg, NP_078796.2:p.His286Leu, NP_001381884.1:p.His286Arg, NP_001381884.1:p.His286Leu

Select item 14901722347.

rs1490172234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199953582 (GRCh38)
2:200818305 (GRCh37)
Canonical SPDI:: NC_000002.12:199953581:G:A
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_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_000002.12:g.199953582G>A, NC_000002.11:g.200818305G>A

Select item 14900708638.

rs1490070863 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:199955572 (GRCh38)
2:200820295 (GRCh37)
Canonical SPDI:: NC_000002.12:199955569:CGCG:CG
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.199955570CG[1], NC_000002.11:g.200820293CG[1], NG_082783.1:g.536CG[1], NM_024520.3:c.-229CG[1], NM_024520.2:c.-229CG[1], NM_001039693.2:c.-103CG[1], NR_004862.1:n.164CG[1], NR_109906.1:n.164CG[1], NR_109907.1:n.164CG[1], NR_109905.1:n.164CG[1], NR_161377.1:n.94CG[1], NM_001369399.1:c.-229CG[1]

Select item 14891307669.

rs1489130766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:199957222 (GRCh38)
2:200821945 (GRCh37)
Canonical SPDI:: NC_000002.12:199957221:A:C
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.199957222A>C, NC_000002.11:g.200821945A>C

Select item 148898141810.

rs1488981418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199957164 (GRCh38)
2:200821887 (GRCh37)
Canonical SPDI:: NC_000002.12:199957163:G:A
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000002.12:g.199957164G>A, NC_000002.11:g.200821887G>A

Select item 148883529511.

rs1488835295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:199956043 (GRCh38)
2:200820766 (GRCh37)
Canonical SPDI:: NC_000002.12:199956042:C:G,NC_000002.12:199956042:C:T
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.199956043C>G, NC_000002.12:g.199956043C>T, NC_000002.11:g.200820766C>G, NC_000002.11:g.200820766C>T, NG_082783.1:g.1009C>G, NG_082783.1:g.1009C>T, NM_024520.3:c.245C>G, NM_024520.3:c.245C>T, NM_024520.2:c.245C>G, NM_024520.2:c.245C>T, NR_161377.1:n.567C>G, NR_161377.1:n.567C>T, NM_001394955.1:c.245C>G, NM_001394955.1:c.245C>T, NM_001369399.1:c.245C>G, NM_001369399.1:c.245C>T, NP_078796.2:p.Pro82Arg, NP_078796.2:p.Pro82Leu, NP_001381884.1:p.Pro82Arg, NP_001381884.1:p.Pro82Leu, NP_001356328.1:p.Pro82Arg, NP_001356328.1:p.Pro82Leu

Select item 148867226212.

rs1488672262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199960537 (GRCh38)
2:200825260 (GRCh37)
Canonical SPDI:: NC_000002.12:199960536:G:A
Gene:: MAIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.199960537G>A, NC_000002.11:g.200825260G>A

Select item 148805393013.

rs1488053930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199958882 (GRCh38)
2:200823605 (GRCh37)
Canonical SPDI:: NC_000002.12:199958881:G:A
Gene:: MAIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.199958882G>A, NC_000002.11:g.200823605G>A

Select item 148740611414.

rs1487406114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199954263 (GRCh38)
2:200818986 (GRCh37)
Canonical SPDI:: NC_000002.12:199954262:G:A
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.199954263G>A, NC_000002.11:g.200818986G>A

Select item 148737453015.

rs1487374530 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAGAAACATGGGACTTTCTCC>- [Show Flanks]
Chromosome:: 2:199955175 (GRCh38)
2:200819898 (GRCh37)
Canonical SPDI:: NC_000002.12:199955170:CTCCCCAGAAACATGGGACTTTCTCC:CTCC
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.199955175_199955196del, NC_000002.11:g.200819898_200819919del, NG_082783.1:g.141_162del

Select item 148728302916.

rs1487283029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:199955668 (GRCh38)
2:200820391 (GRCh37)
Canonical SPDI:: NC_000002.12:199955667:C:G
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.199955668C>G, NC_000002.11:g.200820391C>G, NG_082783.1:g.634C>G, NM_024520.3:c.-131C>G, NM_024520.2:c.-131C>G, NM_001039693.2:c.-198G>C, NR_004862.1:n.69G>C, NR_109906.1:n.69G>C, NR_109907.1:n.69G>C, NR_109905.1:n.69G>C, NR_161377.1:n.192C>G, NM_001394955.1:c.-131C>G, NM_001369399.1:c.-131C>G

Select item 148727073017.

rs1487270730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:199957452 (GRCh38)
2:200822175 (GRCh37)
Canonical SPDI:: NC_000002.12:199957451:T:C
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.199957452T>C, NC_000002.11:g.200822175T>C

Select item 148721900118.

rs1487219001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:199955060 (GRCh38)
2:200819783 (GRCh37)
Canonical SPDI:: NC_000002.12:199955059:T:A,NC_000002.12:199955059:T:G
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
G=0.00022/1 (Estonian)
HGVS:: NC_000002.12:g.199955060T>A, NC_000002.12:g.199955060T>G, NC_000002.11:g.200819783T>A, NC_000002.11:g.200819783T>G, NG_082783.1:g.26T>A, NG_082783.1:g.26T>G