SNP Links for Gene (Select 283726) - SNP

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Select item 14915722651.

rs1491572265 has merged into rs397853729 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:82264079 (GRCh38)
15:82556420 (GRCh37)
Canonical SPDI:: NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:82264068:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.82264079_82264089del, NC_000015.10:g.82264084_82264089del, NC_000015.10:g.82264086_82264089del, NC_000015.10:g.82264087_82264089del, NC_000015.10:g.82264088_82264089del, NC_000015.10:g.82264089del, NC_000015.10:g.82264089dup, NC_000015.10:g.82264088_82264089dup, NC_000015.10:g.82264087_82264089dup, NC_000015.10:g.82264086_82264089dup, NC_000015.10:g.82264085_82264089dup, NC_000015.10:g.82264084_82264089dup, NC_000015.10:g.82264083_82264089dup, NC_000015.10:g.82264082_82264089dup, NC_000015.9:g.82556420_82556430del, NC_000015.9:g.82556425_82556430del, NC_000015.9:g.82556427_82556430del, NC_000015.9:g.82556428_82556430del, NC_000015.9:g.82556429_82556430del, NC_000015.9:g.82556430del, NC_000015.9:g.82556430dup, NC_000015.9:g.82556429_82556430dup, NC_000015.9:g.82556428_82556430dup, NC_000015.9:g.82556427_82556430dup, NC_000015.9:g.82556426_82556430dup, NC_000015.9:g.82556425_82556430dup, NC_000015.9:g.82556424_82556430dup, NC_000015.9:g.82556423_82556430dup

Select item 14908960002.

rs1490896000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:82279614 (GRCh38)
15:82571955 (GRCh37)
Canonical SPDI:: NC_000015.10:82279613:G:A,NC_000015.10:82279613:G:C
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.82279614G>A, NC_000015.10:g.82279614G>C, NC_000015.9:g.82571955G>A, NC_000015.9:g.82571955G>C

Select item 14908277323.

rs1490827732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:82262478 (GRCh38)
15:82554819 (GRCh37)
Canonical SPDI:: NC_000015.10:82262477:C:G
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000057/15 (TOPMED)
HGVS:: NC_000015.10:g.82262478C>G, NC_000015.9:g.82554819C>G, NM_001322845.2:c.-361G>C, NM_001322845.1:c.-361G>C

Select item 14907003524.

rs1490700352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82262671 (GRCh38)
15:82555012 (GRCh37)
Canonical SPDI:: NC_000015.10:82262670:G:A
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.82262671G>A, NC_000015.9:g.82555012G>A, NM_024580.6:c.-77C>T, NM_024580.5:c.-77C>T, NM_001040610.3:c.-77C>T, NM_001040610.2:c.-77C>T, NR_136410.2:n.64C>T, NR_136410.1:n.93C>T, NM_001322844.2:c.-781C>T, NM_001322844.1:c.-781C>T

Select item 14903968795.

rs1490396879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82278425 (GRCh38)
15:82570766 (GRCh37)
Canonical SPDI:: NC_000015.10:82278424:T:C
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000015.10:g.82278425T>C, NC_000015.9:g.82570766T>C

Select item 14903701656.

rs1490370165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82268325 (GRCh38)
15:82560666 (GRCh37)
Canonical SPDI:: NC_000015.10:82268324:T:C
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82268325T>C, NC_000015.9:g.82560666T>C, XM_024449902.2:c.184T>C, XM_024449902.1:c.184T>C, XM_047432398.1:c.184T>C, XP_024305670.1:p.Phe62Leu, XP_047288354.1:p.Phe62Leu

Select item 14902471707.

rs1490247170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:82276753 (GRCh38)
15:82569094 (GRCh37)
Canonical SPDI:: NC_000015.10:82276752:T:G
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000015.10:g.82276753T>G, NC_000015.9:g.82569094T>G

Select item 14901532318.

rs1490153231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:82261295 (GRCh38)
15:82553636 (GRCh37)
Canonical SPDI:: NC_000015.10:82261294:A:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_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_000015.10:g.82261295A>T, NC_000015.9:g.82553636A>T

Select item 14900792579.

rs1490079257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:82280893 (GRCh38)
15:82573234 (GRCh37)
Canonical SPDI:: NC_000015.10:82280892:C:G
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82280893C>G, NC_000015.9:g.82573234C>G

Select item 148998613610.

rs1489986136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82269092 (GRCh38)
15:82561433 (GRCh37)
Canonical SPDI:: NC_000015.10:82269091:T:C
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.82269092T>C, NC_000015.9:g.82561433T>C

Select item 148987829511.

rs1489878295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82267768 (GRCh38)
15:82560109 (GRCh37)
Canonical SPDI:: NC_000015.10:82267767:T:C
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000071/1 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.82267768T>C, NC_000015.9:g.82560109T>C

Select item 148970414212.

rs1489704142 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 15:82272333 (GRCh38)
15:82564674 (GRCh37)
Canonical SPDI:: NC_000015.10:82272332:TT:T
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000015.10:g.82272334del, NC_000015.9:g.82564675del

Select item 148961746113.

rs1489617461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:82267643 (GRCh38)
15:82559984 (GRCh37)
Canonical SPDI:: NC_000015.10:82267642:A:G,NC_000015.10:82267642:A:T
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000015.10:g.82267643A>G, NC_000015.10:g.82267643A>T, NC_000015.9:g.82559984A>G, NC_000015.9:g.82559984A>T

Select item 148960311814.

rs1489603118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82277440 (GRCh38)
15:82569781 (GRCh37)
Canonical SPDI:: NC_000015.10:82277439:C:T
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.82277440C>T, NC_000015.9:g.82569781C>T

Select item 148944401615.

rs1489444016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82281155 (GRCh38)
15:82573496 (GRCh37)
Canonical SPDI:: NC_000015.10:82281154:G:A
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.82281155G>A, NC_000015.9:g.82573496G>A

Select item 148940650016.

rs1489406500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:82264306 (GRCh38)
15:82556647 (GRCh37)
Canonical SPDI:: NC_000015.10:82264305:C:A
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.82264306C>A, NC_000015.9:g.82556647C>A

Select item 148936943517.

rs1489369435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82264695 (GRCh38)
15:82557036 (GRCh37)
Canonical SPDI:: NC_000015.10:82264694:C:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.82264695C>T, NC_000015.9:g.82557036C>T, NM_001348705.2:c.131C>T, NM_001348705.1:c.131C>T, NR_145959.2:n.218C>T, NR_145959.1:n.225C>T, NR_145958.2:n.138C>T, NR_145958.1:n.145C>T, NP_001335634.1:p.Thr44Ile

Select item 148921117118.

rs1489211171 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 15:82262864 (GRCh38)
15:82555205 (GRCh37)
Canonical SPDI:: NC_000015.10:82262863:C:
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.82262864del, NC_000015.9:g.82555205del, XM_024449902.2:c.-297del, XM_024449902.1:c.-297del, NM_001348700.2:c.-413del, NM_001348700.1:c.-413del, NM_001348702.2:c.-469del, NM_001348702.1:c.-469del, NM_001348701.2:c.-207del, NM_001348701.1:c.-207del, NM_001348699.2:c.-16del, NM_001348699.1:c.-16del, NM_001348703.2:c.-213del, NM_001348703.1:c.-213del, NM_001348704.2:c.-297del, NM_001348704.1:c.-297del, NM_001008226.2:c.-16del, NM_001008226.1:c.-16del, NM_001348706.2:c.-16del, NM_001348706.1:c.-16del, NM_001348705.2:c.-91del, NM_001348705.1:c.-91del, NR_145959.2:n.47del, NR_145959.1:n.54del, NR_145958.2:n.47del, NR_145958.1:n.54del, XM_047432398.1:c.-91del

Select item 148903934219.

rs1489039342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82275718 (GRCh38)
15:82568059 (GRCh37)
Canonical SPDI:: NC_000015.10:82275717:A:G
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.82275718A>G, NC_000015.9:g.82568059A>G

Select item 148833631220.

rs1488336312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82281086 (GRCh38)
15:82573427 (GRCh37)
Canonical SPDI:: NC_000015.10:82281085:C:T
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_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_000015.10:g.82281086C>T, NC_000015.9:g.82573427C>T

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