SNP Links for Gene (Select 51296) - SNP

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Select item 14914387151.

rs1491438715 has merged into rs199751222 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAAGAAAGAAAGAA>-,AGAAAGAA,AGAAAGAAAGAA,AGAAAGAAAGAAAGAAAGAA [Show Flanks]
Chromosome:: 11:60949409 (GRCh38)
11:60716881 (GRCh37)
Canonical SPDI:: NC_000011.10:60949407:AAGAAAGAAAGAAAGAA:A,NC_000011.10:60949407:AAGAAAGAAAGAAAGAA:AAGAAAGAA,NC_000011.10:60949407:AAGAAAGAAAGAAAGAA:AAGAAAGAAAGAA,NC_000011.10:60949407:AAGAAAGAAAGAAAGAA:AAGAAAGAAAGAAAGAAAGAA
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGAAAGAAAGAA=0./0 (ALFA)
-=0.00321/50 (TOMMO)
HGVS:: NC_000011.10:g.60949409_60949424del, NC_000011.10:g.60949409AGAA[2], NC_000011.10:g.60949409AGAA[3], NC_000011.10:g.60949409AGAA[5], NC_000011.9:g.60716881_60716896del, NC_000011.9:g.60716881AGAA[2], NC_000011.9:g.60716881AGAA[3], NC_000011.9:g.60716881AGAA[5]

Select item 14913263762.

rs1491326376 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 11:60949444 (GRCh38)
11:60716916 (GRCh37)
Canonical SPDI:: NC_000011.10:60949442:AAA:A,NC_000011.10:60949442:AAA:AA
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000306/5 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000173/22 (GnomAD)
-=0.001402/23 (TOMMO)
HGVS:: NC_000011.10:g.60949444_60949445del, NC_000011.10:g.60949445del, NC_000011.9:g.60716916_60716917del, NC_000011.9:g.60716917del

Select item 14912930933.

rs1491293093 has merged into rs33944083 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AAAAA,AAAGAAAA,AAAGAAAAGAAAA,AAAGAAAAGAAAAGAAAA [Show Flanks]
Chromosome:: 11:60949566 (GRCh38)
11:60717038 (GRCh37)
Canonical SPDI:: NC_000011.10:60949564:AAA:A,NC_000011.10:60949564:AAA:AAAA,NC_000011.10:60949564:AAA:AAAAA,NC_000011.10:60949564:AAA:AAAAAA,NC_000011.10:60949564:AAA:AAAAGAAAA,NC_000011.10:60949564:AAA:AAAAGAAAAGAAAA,NC_000011.10:60949564:AAA:AAAAGAAAAGAAAAGAAAA
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.16716/2681 (TOMMO)
HGVS:: NC_000011.10:g.60949566_60949567del, NC_000011.10:g.60949567dup, NC_000011.10:g.60949566_60949567dup, NC_000011.10:g.60949565_60949567dup, NC_000011.10:g.60949565_60949567A[4]GAAAA[1], NC_000011.10:g.60949565_60949567AAAAG[2]A[4], NC_000011.10:g.60949565_60949567AAAAG[3]A[4], NC_000011.9:g.60717038_60717039del, NC_000011.9:g.60717039dup, NC_000011.9:g.60717038_60717039dup, NC_000011.9:g.60717037_60717039dup, NC_000011.9:g.60717037_60717039A[4]GAAAA[1], NC_000011.9:g.60717037_60717039AAAAG[2]A[4], NC_000011.9:g.60717037_60717039AAAAG[3]A[4]

Select item 14912824974.

rs1491282497 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:60949407 (GRCh38)
11:60716879 (GRCh37)
Canonical SPDI:: NC_000011.10:60949406:GA:
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.60949407_60949408del, NC_000011.9:g.60716879_60716880del

Select item 14912451665.

rs1491245166 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:60949564 (GRCh38)
11:60717036 (GRCh37)
Canonical SPDI:: NC_000011.10:60949562:AGA:A
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.60949564_60949565del, NC_000011.9:g.60717036_60717037del

Select item 14910315186.

rs1491031518 has merged into rs11417679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 11:60950631 (GRCh38)
11:60718103 (GRCh37)
Canonical SPDI:: NC_000011.10:60950617:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:60950617:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:60950617:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:60950617:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:60950617:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:60950617:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3872/1596 (1000Genomes)
HGVS:: NC_000011.10:g.60950631_60950632del, NC_000011.10:g.60950632del, NC_000011.10:g.60950632dup, NC_000011.10:g.60950631_60950632dup, NC_000011.10:g.60950630_60950632dup, NC_000011.10:g.60950629_60950632dup, NC_000011.9:g.60718103_60718104del, NC_000011.9:g.60718104del, NC_000011.9:g.60718104dup, NC_000011.9:g.60718103_60718104dup, NC_000011.9:g.60718102_60718104dup, NC_000011.9:g.60718101_60718104dup

Select item 14909938977.

rs1490993897 has merged into rs755719766 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 11:60949468 (GRCh38)
11:60716940 (GRCh37)
Canonical SPDI:: NC_000011.10:60949458:AGAGAGAGAGAGA:AGAGAGAGA,NC_000011.10:60949458:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000011.10:60949458:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0.000061/1 (ALFA)
AG=0.000004/1 (TOPMED)
-=0.000809/3 (TWINSUK)
-=0.001816/7 (ALSPAC)
HGVS:: NC_000011.10:g.60949460GA[4], NC_000011.10:g.60949460GA[5], NC_000011.10:g.60949460GA[7], NC_000011.9:g.60716932GA[4], NC_000011.9:g.60716932GA[5], NC_000011.9:g.60716932GA[7]

Select item 14909162938.

rs1490916293 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:60951657 (GRCh38)
11:60719129 (GRCh37)
Canonical SPDI:: NC_000011.10:60951656:GG:G
Gene:: SLC15A3 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.60951658del, NC_000011.9:g.60719130del, XM_011545095.3:c.-106del, XM_011545095.2:c.-106del, XM_011545095.1:c.-106del, NM_016582.3:c.-106del, NM_016582.2:c.-106del, NR_027391.2:n.520del, NR_027391.1:n.129del, XR_007062485.1:n.520del

Select item 14907600109.

rs1490760010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:60943324 (GRCh38)
11:60710796 (GRCh37)
Canonical SPDI:: NC_000011.10:60943323:G:T
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.60943324G>T, NC_000011.9:g.60710796G>T

Select item 149038419910.

rs1490384199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60941076 (GRCh38)
11:60708548 (GRCh37)
Canonical SPDI:: NC_000011.10:60941075:C:T
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60941076C>T, NC_000011.9:g.60708548C>T

Select item 149030625211.

rs1490306252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60942889 (GRCh38)
11:60710361 (GRCh37)
Canonical SPDI:: NC_000011.10:60942888:A:G
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.60942889A>G, NC_000011.9:g.60710361A>G

Select item 149019812812.

rs1490198128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA,GGAAGGAA [Show Flanks]
Chromosome:: 11:60949491 (GRCh38)
11:60716964 (GRCh37)
Canonical SPDI:: NC_000011.10:60949491:GAA:GAAGGAA,NC_000011.10:60949491:GAA:GAAGGAAGGAA
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAA=0.00026/4 (ALFA)
GAAG=0.00004/1 (TOMMO)
GAAG=0.00167/1 (NorthernSweden)
HGVS:: NC_000011.10:g.60949494_60949495insGGAA, NC_000011.10:g.60949494_60949495insGGAAGGAA, NC_000011.9:g.60716966_60716967insGGAA, NC_000011.9:g.60716966_60716967insGGAAGGAA

Select item 148994832813.

rs1489948328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60949516 (GRCh38)
11:60716988 (GRCh37)
Canonical SPDI:: NC_000011.10:60949515:G:A
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.60949516G>A, NC_000011.9:g.60716988G>A

Select item 148991234114.

rs1489912341 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 11:60947727 (GRCh38)
11:60715199 (GRCh37)
Canonical SPDI:: NC_000011.10:60947726:TTTTTTTT:TTTTTTT,NC_000011.10:60947726:TTTTTTTT:TTTTTTTTT
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.000054/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00005/7 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.60947734del, NC_000011.10:g.60947734dup, NC_000011.9:g.60715206del, NC_000011.9:g.60715206dup

Select item 148988390115.

rs1489883901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60947977 (GRCh38)
11:60715449 (GRCh37)
Canonical SPDI:: NC_000011.10:60947976:C:T
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.60947977C>T, NC_000011.9:g.60715449C>T

Select item 148982557516.

rs1489825575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60950369 (GRCh38)
11:60717841 (GRCh37)
Canonical SPDI:: NC_000011.10:60950368:C:T
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.60950369C>T, NC_000011.9:g.60717841C>T

Select item 148967318017.

rs1489673180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:60950914 (GRCh38)
11:60718386 (GRCh37)
Canonical SPDI:: NC_000011.10:60950913:G:A,NC_000011.10:60950913:G:C
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000685/2 (KOREAN)
HGVS:: NC_000011.10:g.60950914G>A, NC_000011.10:g.60950914G>C, NC_000011.9:g.60718386G>A, NC_000011.9:g.60718386G>C

Select item 148964933718.

rs1489649337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60951029 (GRCh38)
11:60718501 (GRCh37)
Canonical SPDI:: NC_000011.10:60951028:C:T
Gene:: SLC15A3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60951029C>T, NC_000011.9:g.60718501C>T, XM_011545095.3:c.523G>A, XM_011545095.2:c.523G>A, XM_011545095.1:c.523G>A, NM_016582.3:c.523G>A, NM_016582.2:c.523G>A, NR_027391.2:n.1148G>A, NR_027391.1:n.757G>A, XR_007062485.1:n.1148G>A, XP_011543397.1:p.Val175Ile, NP_057666.1:p.Val175Ile

Select item 148924900619.

rs1489249006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60936599 (GRCh38)
11:60704071 (GRCh37)
Canonical SPDI:: NC_000011.10:60936598:A:G
Gene:: SLC15A3 (Varview), TMEM132A (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60936599A>G, NC_000011.9:g.60704071A>G, NM_017870.4:c.2767A>G, NM_017870.3:c.2767A>G, XM_017017951.3:c.2806A>G, XM_017017951.2:c.2806A>G, XM_017017951.1:c.2806A>G, XM_017017952.3:c.2803A>G, XM_017017952.2:c.2803A>G, XM_017017952.1:c.2803A>G, NM_178031.3:c.2764A>G, NM_178031.2:c.2764A>G, NP_060340.2:p.Ser923Gly, XP_016873440.1:p.Ser936Gly, XP_016873441.1:p.Ser935Gly, NP_821174.1:p.Ser922Gly

Select item 148917978120.

rs1489179781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60939914 (GRCh38)
11:60707386 (GRCh37)
Canonical SPDI:: NC_000011.10:60939913:T:C
Gene:: SLC15A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60939914T>C, NC_000011.9:g.60707386T>C

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