SNP Links for Gene (Select 105371907) - SNP

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Select item 14914631201.

rs1491463120 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:77283178 (GRCh38)
17:75279260 (GRCh37)
Canonical SPDI:: NC_000017.11:77283177:TA:
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.77283178_77283179del, NC_000017.10:g.75279260_75279261del, NG_011683.2:g.6769_6770del, NW_003315955.1:g.74071_74072del

Select item 14912965892.

rs1491296589 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:77277320 (GRCh38)
17:75273402 (GRCh37)
Canonical SPDI:: NC_000017.11:77277319:TA:
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000075/10 (GnomAD)
HGVS:: NC_000017.11:g.77277320_77277321del, NC_000017.10:g.75273402_75273403del, NG_011683.2:g.911_912del, NW_003315955.1:g.68213_68214del

Select item 14911205893.

rs1491120589 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA [Show Flanks]
Chromosome:: 17:77283178 (GRCh38)
17:75279261 (GRCh37)
Canonical SPDI:: NC_000017.11:77283178::TA,NC_000017.11:77283178::TTA
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
TA=0.00014/2 (TOMMO)
HGVS:: NC_000017.11:g.77283178_77283179insTA, NC_000017.11:g.77283178_77283179insTTA, NC_000017.10:g.75279260_75279261insTA, NC_000017.10:g.75279260_75279261insTTA, NG_011683.2:g.6769_6770insTA, NG_011683.2:g.6769_6770insTTA, NW_003315955.1:g.74071_74072insTA, NW_003315955.1:g.74071_74072insTTA

Select item 14910918514.

rs1491091851 has merged into rs1473987173 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 17:77277321 (GRCh38)
17:75273403 (GRCh37)
Canonical SPDI:: NC_000017.11:77277320:AAAA:AAA,NC_000017.11:77277320:AAAA:AAAAA
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.012107/182 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000072/2 (TOMMO)
-=0.013793/8 (NorthernSweden)
-=0.060013/6846 (GnomAD)
HGVS:: NC_000017.11:g.77277324del, NC_000017.11:g.77277324dup, NC_000017.10:g.75273406del, NC_000017.10:g.75273406dup, NG_011683.2:g.915del, NG_011683.2:g.915dup, NW_003315955.1:g.68217del, NW_003315955.1:g.68217dup

Select item 14910841415.

rs1491084141 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CGCCGTGCCC [Show Flanks]
Chromosome:: 17:77280945 (GRCh38)
17:75277028 (GRCh37)
Canonical SPDI:: NC_000017.11:77280945:C:CC,NC_000017.11:77280945:C:CCGCCGTGCCC
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCGCCGTGCCC=0./0 (ALFA)
HGVS:: NC_000017.11:g.77280946dup, NC_000017.11:g.77280946CCG[2]TGCCC[1], NC_000017.10:g.75277028dup, NC_000017.10:g.75277028CCG[2]TGCCC[1], NG_011683.2:g.4537dup, NG_011683.2:g.4537CCG[2]TGCCC[1], NW_003315955.1:g.71839dup, NW_003315955.1:g.71839CCG[2]TGCCC[1]

Select item 14910807506.

rs1491080750 has merged into rs33965677 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:77283170 (GRCh38)
17:75279252 (GRCh37)
Canonical SPDI:: NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:77283160:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.77283170_77283178del, NC_000017.11:g.77283173_77283178del, NC_000017.11:g.77283174_77283178del, NC_000017.11:g.77283175_77283178del, NC_000017.11:g.77283176_77283178del, NC_000017.11:g.77283177_77283178del, NC_000017.11:g.77283178del, NC_000017.11:g.77283178dup, NC_000017.11:g.77283177_77283178dup, NC_000017.11:g.77283176_77283178dup, NC_000017.10:g.75279252_75279260del, NC_000017.10:g.75279255_75279260del, NC_000017.10:g.75279256_75279260del, NC_000017.10:g.75279257_75279260del, NC_000017.10:g.75279258_75279260del, NC_000017.10:g.75279259_75279260del, NC_000017.10:g.75279260del, NC_000017.10:g.75279260dup, NC_000017.10:g.75279259_75279260dup, NC_000017.10:g.75279258_75279260dup, NG_011683.2:g.6761_6769del, NG_011683.2:g.6764_6769del, NG_011683.2:g.6765_6769del, NG_011683.2:g.6766_6769del, NG_011683.2:g.6767_6769del, NG_011683.2:g.6768_6769del, NG_011683.2:g.6769del, NG_011683.2:g.6769dup, NG_011683.2:g.6768_6769dup, NG_011683.2:g.6767_6769dup, NW_003315955.1:g.74063_74071del, NW_003315955.1:g.74066_74071del, NW_003315955.1:g.74067_74071del, NW_003315955.1:g.74068_74071del, NW_003315955.1:g.74069_74071del, NW_003315955.1:g.74070_74071del, NW_003315955.1:g.74071del, NW_003315955.1:g.74071dup, NW_003315955.1:g.74070_74071dup, NW_003315955.1:g.74069_74071dup

Select item 14905066187.

rs1490506618 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14904908418.

rs1490490841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:77277449 (GRCh38)
17:75273532 (GRCh37)
Canonical SPDI:: NC_000017.11:77277449:T:TT
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000034/4 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.77277450dup, NC_000017.10:g.75273532dup, NG_011683.2:g.1041dup, NW_003315955.1:g.68343dup

Select item 14901406809.

rs1490140680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:77277618 (GRCh38)
17:75273700 (GRCh37)
Canonical SPDI:: NC_000017.11:77277617:C:A
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00034/4 (ALFA)
A=0.00713/155 (TOMMO)
A=0.03978/116 (KOREAN)
HGVS:: NC_000017.11:g.77277618C>A, NC_000017.10:g.75273700C>A, NG_011683.2:g.1209C>A, NW_003315955.1:g.68511C>A

Select item 148989704710.

rs1489897047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:77281508 (GRCh38)
17:75277590 (GRCh37)
Canonical SPDI:: NC_000017.11:77281507:T:C,NC_000017.11:77281507:T:G
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.77281508T>C, NC_000017.11:g.77281508T>G, NC_000017.10:g.75277590T>C, NC_000017.10:g.75277590T>G, NG_011683.2:g.5099T>C, NG_011683.2:g.5099T>G, NM_001113491.2:c.-28T>C, NM_001113491.2:c.-28T>G, NM_001113491.1:c.-28T>C, NM_001113491.1:c.-28T>G, NM_001293695.2:c.-28T>C, NM_001293695.2:c.-28T>G, NM_001293695.1:c.-28T>C, NM_001293695.1:c.-28T>G, NW_003315955.1:g.72401T>C, NW_003315955.1:g.72401T>G, XR_001756490.2:n.72T>C, XR_001756490.2:n.72T>G, XR_001756490.1:n.72T>C, XR_001756490.1:n.72T>G

Select item 148892472811.

rs1488924728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:77276980 (GRCh38)
17:75273062 (GRCh37)
Canonical SPDI:: NC_000017.11:77276979:T:G
Gene:: LACAT1 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000058/8 (GnomAD)
HGVS:: NC_000017.11:g.77276980T>G, NC_000017.10:g.75273062T>G, NG_011683.2:g.571T>G, NW_003315955.1:g.67873T>G

Select item 148847465412.

rs1488474654 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:77283163 (GRCh38)
17:75279246 (GRCh37)
Canonical SPDI:: NC_000017.11:77283163::C
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000059/8 (GnomAD)
HGVS:: NC_000017.11:g.77283163_77283164insC, NC_000017.10:g.75279245_75279246insC, NG_011683.2:g.6754_6755insC, NW_003315955.1:g.74056_74057insC

Select item 148838596313.

rs1488385963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:77280990 (GRCh38)
17:75277072 (GRCh37)
Canonical SPDI:: NC_000017.11:77280989:C:A,NC_000017.11:77280989:C:G,NC_000017.11:77280989:C:T
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000017.11:g.77280990C>A, NC_000017.11:g.77280990C>G, NC_000017.11:g.77280990C>T, NC_000017.10:g.75277072C>A, NC_000017.10:g.75277072C>G, NC_000017.10:g.75277072C>T, NG_011683.2:g.4581C>A, NG_011683.2:g.4581C>G, NG_011683.2:g.4581C>T, NW_003315955.1:g.71883C>A, NW_003315955.1:g.71883C>G, NW_003315955.1:g.71883C>T

Select item 148833751614.

rs1488337516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77281385 (GRCh38)
17:75277467 (GRCh37)
Canonical SPDI:: NC_000017.11:77281384:G:A
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.77281385G>A, NC_000017.10:g.75277467G>A, NG_011683.2:g.4976G>A, NW_003315955.1:g.72278G>A

Select item 148831859815.

rs1488318598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:77283094 (GRCh38)
17:75279176 (GRCh37)
Canonical SPDI:: NC_000017.11:77283093:G:A,NC_000017.11:77283093:G:C
Gene:: SEPTIN9 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.77283094G>A, NC_000017.11:g.77283094G>C, NC_000017.10:g.75279176G>A, NC_000017.10:g.75279176G>C, NG_011683.2:g.6685G>A, NG_011683.2:g.6685G>C, NW_003315955.1:g.73987G>A, NW_003315955.1:g.73987G>C

Select item 148830395016.

rs1488303950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77277430 (GRCh38)
17:75273512 (GRCh37)
Canonical SPDI:: NC_000017.11:77277429:C:T
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.77277430C>T, NC_000017.10:g.75273512C>T, NG_011683.2:g.1021C>T, NW_003315955.1:g.68323C>T

Select item 148826383017.

rs1488263830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:77278165 (GRCh38)
17:75274247 (GRCh37)
Canonical SPDI:: NC_000017.11:77278164:T:C
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.77278165T>C, NC_000017.10:g.75274247T>C, NG_011683.2:g.1756T>C, NW_003315955.1:g.69058T>C

Select item 148795048018.

rs1487950480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77277574 (GRCh38)
17:75273656 (GRCh37)
Canonical SPDI:: NC_000017.11:77277573:G:A
Gene:: SEPTIN9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000056/7 (GnomAD)
A=0.000073/2 (TOMMO)
HGVS:: NC_000017.11:g.77277574G>A, NC_000017.10:g.75273656G>A, NG_011683.2:g.1165G>A, NW_003315955.1:g.68467G>A

Select item 148768595919.

rs1487685959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:77276127 (GRCh38)
17:75272209 (GRCh37)
Canonical SPDI:: NC_000017.11:77276126:T:G
Gene:: LACAT1 (Varview), SEPTIN9-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.77276127T>G, NC_000017.10:g.75272209T>G, NW_003315955.1:g.67020T>G

Select item 148763393220.

rs1487633932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:77274679 (GRCh38)
17:75270761 (GRCh37)
Canonical SPDI:: NC_000017.11:77274678:G:A,NC_000017.11:77274678:G:T
Gene:: LACAT1 (Varview), SEPTIN9-DT (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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.77274679G>A, NC_000017.11:g.77274679G>T, NC_000017.10:g.75270761G>A, NC_000017.10:g.75270761G>T, NW_003315955.1:g.65572G>A, NW_003315955.1:g.65572G>T

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