SNP Links for Gene (Select 339168) - SNP

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Select item 14915038591.

rs1491503859 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ATGTGT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914620012.

rs1491462001 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 17:7354557 (GRCh38)
17:7257876 (GRCh37)
Canonical SPDI:: NC_000017.11:7354555:TTT:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7354557_7354558del, NC_000017.10:g.7257876_7257877del, NW_021160020.1:g.112922_112923del, NM_001002914.3:c.*916_*917del, NM_001002914.2:c.*916_*917del, NM_001363642.1:c.*916_*917del

Select item 14911546833.

rs1491154683 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTAT [Show Flanks]
Chromosome:: 17:7354555 (GRCh38)
17:7257875 (GRCh37)
Canonical SPDI:: NC_000017.11:7354555:T:TGTGTAT
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TGTGTAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.7354556TG[2]TAT[1], NC_000017.10:g.7257875TG[2]TAT[1], NW_021160020.1:g.112921TG[2]TAT[1], NM_001002914.3:c.*915TG[2]TAT[1], NM_001002914.2:c.*915TG[2]TAT[1], NM_001363642.1:c.*915TG[2]TAT[1]

Select item 14909295704.

rs1490929570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7353066 (GRCh38)
17:7256385 (GRCh37)
Canonical SPDI:: NC_000017.11:7353065:C:A
Gene:: KCTD11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353066C>A, NC_000017.10:g.7256385C>A, NW_021160020.1:g.111431C>A, NM_001002914.3:c.124C>A, NM_001002914.2:c.124C>A, NM_001363642.1:c.241C>A, NP_001002914.1:p.Leu42Met

Select item 14901904885.

rs1490190488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7353870 (GRCh38)
17:7257189 (GRCh37)
Canonical SPDI:: NC_000017.11:7353869:C:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.7353870C>G, NC_000017.10:g.7257189C>G, NW_021160020.1:g.112235C>G, NM_001002914.3:c.*229C>G, NM_001002914.2:c.*229C>G, NM_001363642.1:c.*229C>G

Select item 14898008186.

rs1489800818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7355598 (GRCh38)
17:7258917 (GRCh37)
Canonical SPDI:: NC_000017.11:7355597:T:C
Gene:: TMEM95 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7355598T>C, NC_000017.10:g.7258917T>C, NW_021160020.1:g.113963T>C, NM_198154.3:c.182T>C, NM_198154.2:c.182T>C, NM_198154.1:c.182T>C, NM_001320436.2:c.182T>C, NM_001320436.1:c.182T>C, NM_001320435.2:c.182T>C, NM_001320435.1:c.182T>C, XM_017024571.2:c.182T>C, XM_017024571.1:c.182T>C, XM_017024565.2:c.182T>C, XM_017024565.1:c.182T>C, XM_017024566.2:c.182T>C, XM_017024566.1:c.182T>C, XM_017024567.2:c.182T>C, XM_017024567.1:c.182T>C, XM_017024569.2:c.182T>C, XM_017024569.1:c.182T>C, XM_017024568.2:c.182T>C, XM_017024568.1:c.182T>C, NP_937797.1:p.Met61Thr, NP_001307365.1:p.Met61Thr, NP_001307364.1:p.Met61Thr, XP_016880060.1:p.Met61Thr, XP_016880054.1:p.Met61Thr, XP_016880055.1:p.Met61Thr, XP_016880056.1:p.Met61Thr, XP_016880058.1:p.Met61Thr, XP_016880057.1:p.Met61Thr

Select item 14895255977.

rs1489525597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7356691 (GRCh38)
17:7260010 (GRCh37)
Canonical SPDI:: NC_000017.11:7356690:T:A
Gene:: TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7356691T>A, NC_000017.10:g.7260010T>A, NW_021160020.1:g.115056T>A, NM_198154.3:c.*59T>A, NM_198154.2:c.*59T>A, NM_198154.1:c.*59T>A, NM_001320436.2:c.*59T>A, NM_001320436.1:c.*59T>A, NM_001320435.2:c.582T>A, NM_001320435.1:c.582T>A, NP_001307364.1:p.His194Gln

Select item 14893116588.

rs1489311658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7354436 (GRCh38)
17:7257755 (GRCh37)
Canonical SPDI:: NC_000017.11:7354435:G:C
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.7354436G>C, NC_000017.10:g.7257755G>C, NW_021160020.1:g.112801G>C, NM_001002914.3:c.*795G>C, NM_001002914.2:c.*795G>C, NM_001363642.1:c.*795G>C

Select item 14890015919.

rs1489001591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7353608 (GRCh38)
17:7256927 (GRCh37)
Canonical SPDI:: NC_000017.11:7353607:C:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7353608C>G, NC_000017.10:g.7256927C>G, NW_021160020.1:g.111973C>G, NM_001002914.3:c.666C>G, NM_001002914.2:c.666C>G, NM_001363642.1:c.783C>G

Select item 148764186310.

rs1487641863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7355165 (GRCh38)
17:7258484 (GRCh37)
Canonical SPDI:: NC_000017.11:7355164:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_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_000017.11:g.7355165C>T, NC_000017.10:g.7258484C>T, NW_021160020.1:g.113530C>T, NM_198154.3:c.-40C>T, NM_198154.2:c.-40C>T, NM_001320436.2:c.-40C>T, NM_001320436.1:c.-40C>T, NM_001320435.2:c.-40C>T, NM_001320435.1:c.-40C>T, XM_017024571.2:c.-40C>T, XM_017024571.1:c.-40C>T, XM_017024565.2:c.-40C>T, XM_017024565.1:c.-40C>T, XM_017024566.2:c.-40C>T, XM_017024566.1:c.-40C>T, XM_017024567.2:c.-40C>T, XM_017024567.1:c.-40C>T, XM_017024569.2:c.-40C>T, XM_017024569.1:c.-40C>T, XM_017024568.2:c.-40C>T, XM_017024568.1:c.-40C>T

Select item 148761051111.

rs1487610511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7356091 (GRCh38)
17:7259410 (GRCh37)
Canonical SPDI:: NC_000017.11:7356090:C:G,NC_000017.11:7356090:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: 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_000017.11:g.7356091C>G, NC_000017.11:g.7356091C>T, NC_000017.10:g.7259410C>G, NC_000017.10:g.7259410C>T, NW_021160020.1:g.114456C>G, NW_021160020.1:g.114456C>T

Select item 148745729212.

rs1487457292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7354193 (GRCh38)
17:7257512 (GRCh37)
Canonical SPDI:: NC_000017.11:7354192:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7354193C>T, NC_000017.10:g.7257512C>T, NW_021160020.1:g.112558C>T, NM_001002914.3:c.*552C>T, NM_001002914.2:c.*552C>T, NM_001363642.1:c.*552C>T

Select item 148704391013.

rs1487043910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:7356109 (GRCh38)
17:7259428 (GRCh37)
Canonical SPDI:: NC_000017.11:7356108:C:A,NC_000017.11:7356108:C:T
Gene:: TMEM95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7356109C>A, NC_000017.11:g.7356109C>T, NC_000017.10:g.7259428C>A, NC_000017.10:g.7259428C>T, NW_021160020.1:g.114474C>A, NW_021160020.1:g.114474C>T

Select item 148529736514.

rs1485297365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7354244 (GRCh38)
17:7257563 (GRCh37)
Canonical SPDI:: NC_000017.11:7354243:C:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.7354244C>G, NC_000017.10:g.7257563C>G, NW_021160020.1:g.112609C>G, NM_001002914.3:c.*603C>G, NM_001002914.2:c.*603C>G, NM_001363642.1:c.*603C>G

Select item 148494600115.

rs1484946001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7356086 (GRCh38)
17:7259405 (GRCh37)
Canonical SPDI:: NC_000017.11:7356085:G:T
Gene:: TMEM95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7356086G>T, NC_000017.10:g.7259405G>T, NW_021160020.1:g.114451G>T

Select item 148492241316.

rs1484922413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7355226 (GRCh38)
17:7258545 (GRCh37)
Canonical SPDI:: NC_000017.11:7355225:G:A
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.7355226G>A, NC_000017.10:g.7258545G>A, NW_021160020.1:g.113591G>A, NM_198154.3:c.22G>A, NM_198154.2:c.22G>A, NM_198154.1:c.22G>A, NM_001320436.2:c.22G>A, NM_001320436.1:c.22G>A, NM_001320435.2:c.22G>A, NM_001320435.1:c.22G>A, XM_017024571.2:c.22G>A, XM_017024571.1:c.22G>A, XM_017024565.2:c.22G>A, XM_017024565.1:c.22G>A, XM_017024566.2:c.22G>A, XM_017024566.1:c.22G>A, XM_017024567.2:c.22G>A, XM_017024567.1:c.22G>A, XM_017024569.2:c.22G>A, XM_017024569.1:c.22G>A, XM_017024568.2:c.22G>A, XM_017024568.1:c.22G>A, NP_937797.1:p.Gly8Arg, NP_001307365.1:p.Gly8Arg, NP_001307364.1:p.Gly8Arg, XP_016880060.1:p.Gly8Arg, XP_016880054.1:p.Gly8Arg, XP_016880055.1:p.Gly8Arg, XP_016880056.1:p.Gly8Arg, XP_016880058.1:p.Gly8Arg, XP_016880057.1:p.Gly8Arg

Select item 148462424117.

rs1484624241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7357426 (GRCh38)
17:7260745 (GRCh37)
Canonical SPDI:: NC_000017.11:7357425:C:G
Gene:: TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.7357426C>G, NC_000017.10:g.7260745C>G, NW_021160020.1:g.115791C>G

Select item 148405420718.

rs1484054207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7355058 (GRCh38)
17:7258377 (GRCh37)
Canonical SPDI:: NC_000017.11:7355057:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7355058C>T, NC_000017.10:g.7258377C>T, NW_021160020.1:g.113423C>T

Select item 148363903619.

rs1483639036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7357576 (GRCh38)
17:7260895 (GRCh37)
Canonical SPDI:: NC_000017.11:7357575:A:G
Gene:: TMEM95 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.7357576A>G, NC_000017.10:g.7260895A>G, NW_021160020.1:g.115941A>G

Select item 148360090220.

rs1483600902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7356000 (GRCh38)
17:7259319 (GRCh37)
Canonical SPDI:: NC_000017.11:7355999:C:A
Gene:: TMEM95 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.7356000C>A, NC_000017.10:g.7259319C>A, NW_021160020.1:g.114365C>A

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