SNP Links for Gene (Select 100506581) - SNP

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Select item 14914859761.

rs1491485976 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 16:87317814 (GRCh38)
16:87351421 (GRCh37)
Canonical SPDI:: NC_000016.10:87317814:TTTCTTTCTTT:TTTCTTTCTTTCTTT
Gene:: C16orf95 (Varview), C16orf95-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTTCTTTCTTT=0./0 (ALFA)
TTTC=0.00015/11 (GnomAD)
HGVS:: NC_000016.10:g.87317818CTTT[3], NC_000016.9:g.87351424CTTT[3]

Select item 14912509102.

rs1491250910 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTTTT [Show Flanks]
Chromosome:: 16:87317816 (GRCh38)
16:87351422 (GRCh37)
Canonical SPDI:: NC_000016.10:87317813:TTTT:TT,NC_000016.10:87317813:TTTT:TTTTTTTT
Gene:: C16orf95 (Varview), C16orf95-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000536/142 (TOPMED)
-=0.000681/71 (GnomAD)
HGVS:: NC_000016.10:g.87317816_87317817del, NC_000016.10:g.87317814_87317817dup, NC_000016.9:g.87351422_87351423del, NC_000016.9:g.87351420_87351423dup

Select item 14912348983.

rs1491234898 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:87313192 (GRCh38)
16:87346799 (GRCh37)
Canonical SPDI:: NC_000016.10:87313192::A
Gene:: C16orf95 (Varview), LOC124903787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/4 (ALFA)
HGVS:: NC_000016.10:g.87313192_87313193insA, NC_000016.9:g.87346798_87346799insA

Select item 14911860004.

rs1491186000 [Homo sapiens]

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

Select item 14909593735.

rs1490959373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:87307118 (GRCh38)
16:87340724 (GRCh37)
Canonical SPDI:: NC_000016.10:87307117:G:T
Gene:: C16orf95 (Varview)
Functional Consequence:: 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_000016.10:g.87307118G>T, NC_000016.9:g.87340724G>T

Select item 14905424206.

rs1490542420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:87313038 (GRCh38)
16:87346644 (GRCh37)
Canonical SPDI:: NC_000016.10:87313037:A:G
Gene:: C16orf95 (Varview), LOC124903787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.87313038A>G, NC_000016.9:g.87346644A>G

Select item 14905192177.

rs1490519217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:87314331 (GRCh38)
16:87347937 (GRCh37)
Canonical SPDI:: NC_000016.10:87314330:A:C
Gene:: C16orf95 (Varview), LOC124903787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000086/12 (GnomAD)
HGVS:: NC_000016.10:g.87314331A>C, NC_000016.9:g.87347937A>C

Select item 14905034548.

rs1490503454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:87318940 (GRCh38)
16:87352546 (GRCh37)
Canonical SPDI:: NC_000016.10:87318939:T:C
Gene:: C16orf95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.87318940T>C, NC_000016.9:g.87352546T>C

Select item 14903133019.

rs1490313301 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,CC [Show Flanks]
Chromosome:: 16:87302768 (GRCh38)
16:87336374 (GRCh37)
Canonical SPDI:: NC_000016.10:87302764:CCCCCC:CCC,NC_000016.10:87302764:CCCCCC:CCCCC
Gene:: C16orf95 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000016.10:g.87302768_87302770del, NC_000016.10:g.87302770del, NC_000016.9:g.87336374_87336376del, NC_000016.9:g.87336376del

Select item 149020957310.

rs1490209573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:87314116 (GRCh38)
16:87347722 (GRCh37)
Canonical SPDI:: NC_000016.10:87314115:T:C
Gene:: C16orf95 (Varview), LOC124903787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.87314116T>C, NC_000016.9:g.87347722T>C

Select item 149008247311.

rs1490082473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:87314205 (GRCh38)
16:87347811 (GRCh37)
Canonical SPDI:: NC_000016.10:87314204:C:T
Gene:: C16orf95 (Varview), LOC124903787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.87314205C>T, NC_000016.9:g.87347811C>T

Select item 148995951012.

rs1489959510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:87308558 (GRCh38)
16:87342164 (GRCh37)
Canonical SPDI:: NC_000016.10:87308557:A:C
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.87308558A>C, NC_000016.9:g.87342164A>C

Select item 148981467713.

rs1489814677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:87317139 (GRCh38)
16:87350745 (GRCh37)
Canonical SPDI:: NC_000016.10:87317138:C:A
Gene:: C16orf95 (Varview), C16orf95-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.87317139C>A, NC_000016.9:g.87350745C>A, NM_001195124.3:c.104G>T, NM_001195124.2:c.104G>T, NM_001195124.1:c.104G>T, NM_001195125.3:c.104G>T, NM_001195125.2:c.104G>T, NM_001195125.1:c.104G>T, NM_001256917.2:c.55G>T, NM_001256917.1:c.55G>T, NP_001182053.1:p.Cys35Phe, NP_001182054.1:p.Cys35Phe, NP_001243846.1:p.Ala19Ser

Select item 148943453514.

rs1489434535 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTGT>- [Show Flanks]
Chromosome:: 16:87309392 (GRCh38)
16:87342998 (GRCh37)
Canonical SPDI:: NC_000016.10:87309390:TTTTTTTTTTGT:T
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01222/145 (ALFA)
-=0.00146/134 (GnomAD)
-=0.00417/64 (TOMMO)
-=0.0044/8 (Korea1K)
HGVS:: NC_000016.10:g.87309392_87309402del, NC_000016.9:g.87342998_87343008del

Select item 148899698515.

rs1488996985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:87312016 (GRCh38)
16:87345622 (GRCh37)
Canonical SPDI:: NC_000016.10:87312015:T:C
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.87312016T>C, NC_000016.9:g.87345622T>C

Select item 148869612716.

rs1488696127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:87309384 (GRCh38)
16:87342990 (GRCh37)
Canonical SPDI:: NC_000016.10:87309383:T:C
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00008/5 (GnomAD)
HGVS:: NC_000016.10:g.87309384T>C, NC_000016.9:g.87342990T>C

Select item 148853620617.

rs1488536206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:87311578 (GRCh38)
16:87345184 (GRCh37)
Canonical SPDI:: NC_000016.10:87311577:A:G
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.87311578A>G, NC_000016.9:g.87345184A>G

Select item 148819444018.

rs1488194440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:87309545 (GRCh38)
16:87343151 (GRCh37)
Canonical SPDI:: NC_000016.10:87309544:A:T
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.87309545A>T, NC_000016.9:g.87343151A>T

Select item 148804242619.

rs1488042426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:87310948 (GRCh38)
16:87344554 (GRCh37)
Canonical SPDI:: NC_000016.10:87310947:C:A,NC_000016.10:87310947:C:T
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.87310948C>A, NC_000016.10:g.87310948C>T, NC_000016.9:g.87344554C>A, NC_000016.9:g.87344554C>T

Select item 148798248320.

rs1487982483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:87303467 (GRCh38)
16:87337073 (GRCh37)
Canonical SPDI:: NC_000016.10:87303466:G:A
Gene:: C16orf95 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.87303467G>A, NC_000016.9:g.87337073G>A

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