SNP Links for Gene (Select 1647) - SNP

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Select item 14913493451.

rs1491349345 has merged into rs1210129248 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:67685715 (GRCh38)
1:68151398 (GRCh37)
Canonical SPDI:: NC_000001.11:67685714:CCCCCC:CCCCC,NC_000001.11:67685714:CCCCCC:CCCCCCC
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.67685720del, NC_000001.11:g.67685720dup, NC_000001.10:g.68151403del, NC_000001.10:g.68151403dup

Select item 14910933712.

rs1491093371 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:67685714 (GRCh38)
1:68151397 (GRCh37)
Canonical SPDI:: NC_000001.11:67685713:GC:
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.67685714_67685715del, NC_000001.10:g.68151397_68151398del

Select item 14906299173.

rs1490629917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67684806 (GRCh38)
1:68150489 (GRCh37)
Canonical SPDI:: NC_000001.11:67684805:C:T
Gene:: GADD45A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67684806C>T, NC_000001.10:g.68150489C>T

Select item 14895989554.

rs1489598955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67683184 (GRCh38)
1:68148867 (GRCh37)
Canonical SPDI:: NC_000001.11:67683183:G:A
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.67683184G>A, NC_000001.10:g.68148867G>A, NG_066087.1:g.675G>A

Select item 14893170265.

rs1489317026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:67685910 (GRCh38)
1:68151593 (GRCh37)
Canonical SPDI:: NC_000001.11:67685909:G:C
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67685910G>C, NC_000001.10:g.68151593G>C

Select item 14882544346.

rs1488254434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:67684696 (GRCh38)
1:68150379 (GRCh37)
Canonical SPDI:: NC_000001.11:67684695:C:G,NC_000001.11:67684695:C:T
Gene:: GADD45A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67684696C>G, NC_000001.11:g.67684696C>T, NC_000001.10:g.68150379C>G, NC_000001.10:g.68150379C>T

Select item 14874136157.

rs1487413615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:67684289 (GRCh38)
1:68149972 (GRCh37)
Canonical SPDI:: NC_000001.11:67684288:G:C
Gene:: GADD45A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67684289G>C, NC_000001.10:g.68149972G>C

Select item 14873615238.

rs1487361523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67685231 (GRCh38)
1:68150914 (GRCh37)
Canonical SPDI:: NC_000001.11:67685230:C:T
Gene:: GADD45A (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.67685231C>T, NC_000001.10:g.68150914C>T, NM_001924.4:c.-264C>T, NM_001924.3:c.-264C>T, NM_001199741.2:c.-264C>T, NM_001199741.1:c.-264C>T, NM_001199742.2:c.-264C>T, NM_001199742.1:c.-264C>T

Select item 14869191929.

rs1486919192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:67685719 (GRCh38)
1:68151402 (GRCh37)
Canonical SPDI:: NC_000001.11:67685718:C:G
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67685719C>G, NC_000001.10:g.68151402C>G

Select item 148691464710.

rs1486914647 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:67685108 (GRCh38)
1:68150791 (GRCh37)
Canonical SPDI:: NC_000001.11:67685107:T:
Gene:: GADD45A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000162/3 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000078/11 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.67685108del, NC_000001.10:g.68150791del

Select item 148688065511.

rs1486880655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67687168 (GRCh38)
1:68152851 (GRCh37)
Canonical SPDI:: NC_000001.11:67687167:G:A
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.67687168G>A, NC_000001.10:g.68152851G>A, NG_082075.1:g.1097G>A

Select item 148684751712.

rs1486847517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67688431 (GRCh38)
1:68154114 (GRCh37)
Canonical SPDI:: NC_000001.11:67688430:G:A
Gene:: GADD45A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000001.11:g.67688431G>A, NC_000001.10:g.68154114G>A

Select item 148651380913.

rs1486513809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67686310 (GRCh38)
1:68151993 (GRCh37)
Canonical SPDI:: NC_000001.11:67686309:C:T
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.67686310C>T, NC_000001.10:g.68151993C>T, NG_082075.1:g.239C>T

Select item 148618722314.

rs1486187223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:67686635 (GRCh38)
1:68152318 (GRCh37)
Canonical SPDI:: NC_000001.11:67686634:C:G,NC_000001.11:67686634:C:T
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67686635C>G, NC_000001.11:g.67686635C>T, NC_000001.10:g.68152318C>G, NC_000001.10:g.68152318C>T, NG_082075.1:g.564C>G, NG_082075.1:g.564C>T

Select item 148593585215.

rs1485935852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:67684966 (GRCh38)
1:68150649 (GRCh37)
Canonical SPDI:: NC_000001.11:67684965:C:A,NC_000001.11:67684965:C:T
Gene:: GADD45A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67684966C>A, NC_000001.11:g.67684966C>T, NC_000001.10:g.68150649C>A, NC_000001.10:g.68150649C>T

Select item 148530313516.

rs1485303135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:67687297 (GRCh38)
1:68152980 (GRCh37)
Canonical SPDI:: NC_000001.11:67687296:T:G
Gene:: GADD45A (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.67687297T>G, NC_000001.10:g.68152980T>G, NG_082075.1:g.1226T>G

Select item 148526180117.

rs1485261801 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:67686636 (GRCh38)
1:68152319 (GRCh37)
Canonical SPDI:: NC_000001.11:67686635:GGG:GG
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.67686638del, NC_000001.10:g.68152321del, NG_082075.1:g.567del

Select item 148520842018.

rs1485208420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67687862 (GRCh38)
1:68153545 (GRCh37)
Canonical SPDI:: NC_000001.11:67687861:G:A
Gene:: GADD45A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67687862G>A, NC_000001.10:g.68153545G>A, NM_001924.4:c.*88G>A, NM_001924.3:c.*88G>A, NM_001199741.2:c.*88G>A, NM_001199741.1:c.*88G>A, NM_001199742.2:c.*165G>A, NM_001199742.1:c.*165G>A

Select item 148502301919.

rs1485023019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67686877 (GRCh38)
1:68152560 (GRCh37)
Canonical SPDI:: NC_000001.11:67686876:G:A
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67686877G>A, NC_000001.10:g.68152560G>A, NG_082075.1:g.806G>A

Select item 148480158220.

rs1484801582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67686125 (GRCh38)
1:68151808 (GRCh37)
Canonical SPDI:: NC_000001.11:67686124:G:A
Gene:: GADD45A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.67686125G>A, NC_000001.10:g.68151808G>A, NG_082075.1:g.54G>A, NM_001924.4:c.145G>A, NM_001924.3:c.145G>A, NM_001199742.2:c.145G>A, NM_001199742.1:c.145G>A, NP_001915.1:p.Val49Ile, NP_001186671.1:p.Val49Ile

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