SNP Links for Gene (Select 6297) - SNP

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Select item 14914935591.

rs1491493559 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:21533090 (GRCh38)
14:22001225 (GRCh37)
Canonical SPDI:: NC_000014.9:21533090:A:AA
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.21533091dup, NC_000014.8:g.22001225dup, NG_051069.1:g.9126dup

Select item 14914146442.

rs1491414644 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:21533090 (GRCh38)
14:22001224 (GRCh37)
Canonical SPDI:: NC_000014.9:21533089:TA:
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21533090_21533091del, NC_000014.8:g.22001224_22001225del, NG_051069.1:g.9126_9127del

Select item 14911874893.

rs1491187489 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:21521574 (GRCh38)
14:21989707 (GRCh37)
Canonical SPDI:: NC_000014.9:21521572:ACA:A
Gene:: SALL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000035/1 (GnomAD)
HGVS:: NC_000014.9:g.21521574_21521575del, NC_000014.8:g.21989706CA[1], NG_051069.1:g.20643_20644del, NM_005407.3:c.*1130_*1131del, NM_005407.2:c.*1130_*1131del, NM_005407.1:c.*1131dup, NM_005407.1:c.*1130del, NM_001291447.2:c.*434_*435del, NM_001291447.1:c.*434_*435del, NM_001291446.2:c.*434_*435del, NM_001291446.1:c.*434_*435del, NR_111967.2:n.1275_1276del, NR_111967.1:n.1337_1338del, NR_111966.2:n.1262_1263del, NR_111966.1:n.1357_1358del, NM_001364564.1:c.*1130_*1131del, XM_011537065.3:c.*434_*435del, XM_011537065.2:c.*434_*435del, XM_011537065.1:c.*434_*435del, XM_011537064.2:c.*434_*435del, XM_011537064.1:c.*434_*435del

Select item 14909729314.

rs1490972931 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:21531676 (GRCh38)
14:21999811 (GRCh37)
Canonical SPDI:: NC_000014.9:21531676::A
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00059/9 (ALFA)
A=0.00201/9 (Estonian)
HGVS:: NC_000014.9:g.21531676_21531677insA, NC_000014.8:g.21999810_21999811insA, NG_051069.1:g.10540_10541insT

Select item 14908648325.

rs1490864832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:21533272 (GRCh38)
14:22001406 (GRCh37)
Canonical SPDI:: NC_000014.9:21533271:C:A,NC_000014.9:21533271:C:T
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21533272C>A, NC_000014.9:g.21533272C>T, NC_000014.8:g.22001406C>A, NC_000014.8:g.22001406C>T, NG_051069.1:g.8945G>T, NG_051069.1:g.8945G>A

Select item 14902952206.

rs1490295220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21533668 (GRCh38)
14:22001802 (GRCh37)
Canonical SPDI:: NC_000014.9:21533667:A:G
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.21533668A>G, NC_000014.8:g.22001802A>G, NG_051069.1:g.8549T>C

Select item 14898241837.

rs1489824183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21530757 (GRCh38)
14:21998891 (GRCh37)
Canonical SPDI:: NC_000014.9:21530756:G:A
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.21530757G>A, NC_000014.8:g.21998891G>A, NG_051069.1:g.11460C>T

Select item 14898010628.

rs1489801062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:21525228 (GRCh38)
14:21993362 (GRCh37)
Canonical SPDI:: NC_000014.9:21525227:G:A,NC_000014.9:21525227:G:C
Gene:: SALL2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.21525228G>A, NC_000014.9:g.21525228G>C, NC_000014.8:g.21993362G>A, NC_000014.8:g.21993362G>C, NG_051069.1:g.16989C>T, NG_051069.1:g.16989C>G, NM_005407.3:c.500C>T, NM_005407.3:c.500C>G, NM_005407.2:c.500C>T, NM_005407.2:c.500C>G, NM_005407.1:c.500C>T, NM_005407.1:c.500C>G, NM_001364564.1:c.494C>T, NM_001364564.1:c.494C>G, XM_011537065.3:c.494C>T, XM_011537065.3:c.494C>G, XM_011537065.2:c.494C>T, XM_011537065.2:c.494C>G, XM_011537065.1:c.494C>T, XM_011537065.1:c.494C>G, XM_011537064.2:c.500C>T, XM_011537064.2:c.500C>G, XM_011537064.1:c.500C>T, XM_011537064.1:c.500C>G, NP_005398.2:p.Pro167Leu, NP_005398.2:p.Pro167Arg, NP_001351493.1:p.Pro165Leu, NP_001351493.1:p.Pro165Arg, XP_011535367.1:p.Pro165Leu, XP_011535367.1:p.Pro165Arg, XP_011535366.1:p.Pro167Leu, XP_011535366.1:p.Pro167Arg

Select item 14897729199.

rs1489772919 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:21527252 (GRCh38)
14:21995386 (GRCh37)
Canonical SPDI:: NC_000014.9:21527251:CA:
Gene:: SALL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21527252_21527253del, NC_000014.8:g.21995386_21995387del, NG_051069.1:g.14964_14965del

Select item 148963901510.

rs1489639015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21532566 (GRCh38)
14:22000700 (GRCh37)
Canonical SPDI:: NC_000014.9:21532565:T:C
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21532566T>C, NC_000014.8:g.22000700T>C, NG_051069.1:g.9651A>G

Select item 148954220011.

rs1489542200 has merged into rs962155648 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 14:21531586 (GRCh38)
14:21999720 (GRCh37)
Canonical SPDI:: NC_000014.9:21531580:TTTTTTT:TTTTT,NC_000014.9:21531580:TTTTTTT:TTTTTTTT
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000071/1 (ALFA)
T=0.000468/3 (1000Genomes)
T=0.000686/95 (GnomAD)
T=0.000744/197 (TOPMED)
HGVS:: NC_000014.9:g.21531586_21531587del, NC_000014.9:g.21531587dup, NC_000014.8:g.21999720_21999721del, NC_000014.8:g.21999721dup, NG_051069.1:g.10635_10636del, NG_051069.1:g.10636dup

Select item 148948984912.

rs1489489849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:21530460 (GRCh38)
14:21998594 (GRCh37)
Canonical SPDI:: NC_000014.9:21530459:G:T
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000014.9:g.21530460G>T, NC_000014.8:g.21998594G>T, NG_051069.1:g.11757C>A

Select item 148941882613.

rs1489418826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:21526613 (GRCh38)
14:21994747 (GRCh37)
Canonical SPDI:: NC_000014.9:21526612:G:A,NC_000014.9:21526612:G:T
Gene:: SALL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.21526613G>A, NC_000014.9:g.21526613G>T, NC_000014.8:g.21994747G>A, NC_000014.8:g.21994747G>T, NG_051069.1:g.15604C>T, NG_051069.1:g.15604C>A

Select item 148928453914.

rs1489284539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21537958 (GRCh38)
14:22006092 (GRCh37)
Canonical SPDI:: NC_000014.9:21537957:T:C
Gene:: SALL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.21537958T>C, NC_000014.8:g.22006092T>C, NG_051069.1:g.4259A>G

Select item 148922200915.

rs1489222009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21533180 (GRCh38)
14:22001314 (GRCh37)
Canonical SPDI:: NC_000014.9:21533179:T:C
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000014.9:g.21533180T>C, NC_000014.8:g.22001314T>C, NG_051069.1:g.9037A>G

Select item 148920471016.

rs1489204710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:21528586 (GRCh38)
14:21996720 (GRCh37)
Canonical SPDI:: NC_000014.9:21528585:A:T
Gene:: SALL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21528586A>T, NC_000014.8:g.21996720A>T, NG_051069.1:g.13631T>A

Select item 148913371017.

rs1489133710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:21525984 (GRCh38)
14:21994118 (GRCh37)
Canonical SPDI:: NC_000014.9:21525983:C:G
Gene:: SALL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.21525984C>G, NC_000014.8:g.21994118C>G, NG_051069.1:g.16233G>C

Select item 148909082918.

rs1489090829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21523037 (GRCh38)
14:21991171 (GRCh37)
Canonical SPDI:: NC_000014.9:21523036:C:T
Gene:: SALL2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21523037C>T, NC_000014.8:g.21991171C>T, NG_051069.1:g.19180G>A, NM_005407.3:c.2691G>A, NM_005407.2:c.2691G>A, NM_005407.1:c.2691G>A, NM_001291447.2:c.2280G>A, NM_001291447.1:c.2280G>A, NM_001291446.2:c.2286G>A, NM_001291446.1:c.2286G>A, NM_001364564.1:c.2685G>A, XM_011537065.3:c.2685G>A, XM_011537065.2:c.2685G>A, XM_011537065.1:c.2685G>A, XM_011537064.2:c.2691G>A, XM_011537064.1:c.2691G>A

Select item 148905827919.

rs1489058279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21523721 (GRCh38)
14:21991855 (GRCh37)
Canonical SPDI:: NC_000014.9:21523720:G:A
Gene:: SALL2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21523721G>A, NC_000014.8:g.21991855G>A, NG_051069.1:g.18496C>T, NM_005407.3:c.2007C>T, NM_005407.2:c.2007C>T, NM_005407.1:c.2007C>T, NM_001291447.2:c.1596C>T, NM_001291447.1:c.1596C>T, NM_001291446.2:c.1602C>T, NM_001291446.1:c.1602C>T, NM_001364564.1:c.2001C>T, XM_011537065.3:c.2001C>T, XM_011537065.2:c.2001C>T, XM_011537065.1:c.2001C>T, XM_011537064.2:c.2007C>T, XM_011537064.1:c.2007C>T

Select item 148880468520.

rs1488804685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21527099 (GRCh38)
14:21995233 (GRCh37)
Canonical SPDI:: NC_000014.9:21527098:T:C
Gene:: SALL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21527099T>C, NC_000014.8:g.21995233T>C, NG_051069.1:g.15118A>G

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