SNP Links for Gene (Select 79228) - SNP

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Select item 14906697941.

rs1490669794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:3024630 (GRCh38)
16:3074631 (GRCh37)
Canonical SPDI:: NC_000016.10:3024629:C:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.3024630C>A, NC_000016.9:g.3074631C>A, NG_052595.1:g.5612C>A

Select item 14902836222.

rs1490283622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3025856 (GRCh38)
16:3075857 (GRCh37)
Canonical SPDI:: NC_000016.10:3025855:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3025856G>A, NC_000016.9:g.3075857G>A, NG_052595.1:g.6838G>A

Select item 14901968783.

rs1490196878 [Homo sapiens]

Variant type:: DEL
Alleles:: ACCATG>- [Show Flanks]
Chromosome:: 16:3024832 (GRCh38)
16:3074833 (GRCh37)
Canonical SPDI:: NC_000016.10:3024831:ACCATG:
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.3024832_3024837del, NC_000016.9:g.3074833_3074838del, NG_052595.1:g.5814_5819del

Select item 14901679874.

rs1490167987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3027226 (GRCh38)
16:3077227 (GRCh37)
Canonical SPDI:: NC_000016.10:3027225:C:T
Gene:: THOC6 (Varview), BICDL2 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.3027226C>T, NC_000016.9:g.3077227C>T, NG_052595.1:g.8208C>T, NM_024339.5:c.756C>T, NM_024339.4:c.756C>T, NM_024339.3:c.756C>T, NM_001142350.3:c.756C>T, NM_001142350.2:c.756C>T, NM_001142350.1:c.756C>T, NM_001347704.2:c.756C>T, NM_001347704.1:c.756C>T, NM_001347703.2:c.684C>T, NM_001347703.1:c.684C>T

Select item 14899710525.

rs1489971052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3027273 (GRCh38)
16:3077274 (GRCh37)
Canonical SPDI:: NC_000016.10:3027272:A:G
Gene:: THOC6 (Varview), BICDL2 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3027273A>G, NC_000016.9:g.3077274A>G, NG_052595.1:g.8255A>G, NM_024339.5:c.803A>G, NM_024339.4:c.803A>G, NM_024339.3:c.803A>G, NM_001142350.3:c.803A>G, NM_001142350.2:c.803A>G, NM_001142350.1:c.803A>G, NM_001347704.2:c.803A>G, NM_001347704.1:c.803A>G, NM_001347703.2:c.731A>G, NM_001347703.1:c.731A>G, NP_077315.2:p.Gln268Arg, NP_001135822.1:p.Gln268Arg, NP_001334633.1:p.Gln268Arg, NP_001334632.1:p.Gln244Arg

Select item 14894831906.

rs1489483190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:3027908 (GRCh38)
16:3077909 (GRCh37)
Canonical SPDI:: NC_000016.10:3027907:A:T
Gene:: THOC6 (Varview), BICDL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.3027908A>T, NC_000016.9:g.3077909A>T, NG_052595.1:g.8890A>T, XM_005255135.5:c.*198T>A, XM_005255135.4:c.*198T>A, XM_005255135.3:c.*198T>A, XM_005255135.2:c.*198T>A, XM_005255135.1:c.*198T>A, XM_011522391.3:c.*198T>A, XM_011522391.2:c.*198T>A, XM_011522391.1:c.*198T>A, NM_001103175.2:c.*198T>A, NM_001103175.1:c.*198T>A, NM_001369667.1:c.*198T>A

Select item 14890889227.

rs1489088922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:3022506 (GRCh38)
16:3072507 (GRCh37)
Canonical SPDI:: NC_000016.10:3022505:C:A
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,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_000016.10:g.3022506C>A, NC_000016.9:g.3072507C>A, NG_052595.1:g.3488C>A

Select item 14890792648.

rs1489079264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:3022841 (GRCh38)
16:3072842 (GRCh37)
Canonical SPDI:: NC_000016.10:3022840:G:T
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000016.10:g.3022841G>T, NC_000016.9:g.3072842G>T, NG_052595.1:g.3823G>T, NM_017885.4:c.*22C>A, NM_017885.3:c.*22C>A, NM_017885.2:c.*22C>A, XM_011522559.4:c.*22C>A, XM_011522559.3:c.*22C>A, XM_011522559.2:c.*22C>A, XM_011522559.1:c.*22C>A, NM_001002017.2:c.*22C>A, NM_001002017.1:c.*22C>A, NM_001002018.2:c.*22C>A, NM_001002018.1:c.*22C>A, XM_017023384.2:c.*22C>A, XM_017023384.1:c.*22C>A, NM_001288667.1:c.*22C>A, NM_001288665.1:c.*22C>A, NM_001288668.1:c.*22C>A, NM_001288666.1:c.*22C>A, NM_001308070.1:c.*22C>A, XM_047434301.1:c.*22C>A

Select item 14888504079.

rs1488850407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3022738 (GRCh38)
16:3072739 (GRCh37)
Canonical SPDI:: NC_000016.10:3022737:G:A
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.3022738G>A, NC_000016.9:g.3072739G>A, NG_052595.1:g.3720G>A, NM_017885.4:c.*125C>T, NM_017885.3:c.*125C>T, NM_017885.2:c.*125C>T, XM_011522559.4:c.*125C>T, XM_011522559.3:c.*125C>T, XM_011522559.2:c.*125C>T, XM_011522559.1:c.*125C>T, NM_001002017.2:c.*125C>T, NM_001002017.1:c.*125C>T, NM_001002018.2:c.*125C>T, NM_001002018.1:c.*125C>T, XM_017023384.2:c.*125C>T, XM_017023384.1:c.*125C>T, NM_001288667.1:c.*125C>T, NM_001288665.1:c.*125C>T, NM_001288668.1:c.*125C>T, NM_001288666.1:c.*125C>T, NM_001308070.1:c.*125C>T, XM_047434301.1:c.*125C>T

Select item 148867400810.

rs1488674008 has merged into rs34833478 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 16:3024648 (GRCh38)
16:3074649 (GRCh37)
Canonical SPDI:: NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:3024637:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
T=0.4631/2319 (1000Genomes)
HGVS:: NC_000016.10:g.3024648_3024652del, NC_000016.10:g.3024649_3024652del, NC_000016.10:g.3024651_3024652del, NC_000016.10:g.3024652del, NC_000016.10:g.3024652dup, NC_000016.10:g.3024651_3024652dup, NC_000016.10:g.3024650_3024652dup, NC_000016.10:g.3024649_3024652dup, NC_000016.10:g.3024648_3024652dup, NC_000016.10:g.3024647_3024652dup, NC_000016.9:g.3074649_3074653del, NC_000016.9:g.3074650_3074653del, NC_000016.9:g.3074652_3074653del, NC_000016.9:g.3074653del, NC_000016.9:g.3074653dup, NC_000016.9:g.3074652_3074653dup, NC_000016.9:g.3074651_3074653dup, NC_000016.9:g.3074650_3074653dup, NC_000016.9:g.3074649_3074653dup, NC_000016.9:g.3074648_3074653dup, NG_052595.1:g.5630_5634del, NG_052595.1:g.5631_5634del, NG_052595.1:g.5633_5634del, NG_052595.1:g.5634del, NG_052595.1:g.5634dup, NG_052595.1:g.5633_5634dup, NG_052595.1:g.5632_5634dup, NG_052595.1:g.5631_5634dup, NG_052595.1:g.5630_5634dup, NG_052595.1:g.5629_5634dup

Select item 148811152911.

rs1488111529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3027197 (GRCh38)
16:3077198 (GRCh37)
Canonical SPDI:: NC_000016.10:3027196:C:T
Gene:: THOC6 (Varview), BICDL2 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3027197C>T, NC_000016.9:g.3077198C>T, NG_052595.1:g.8179C>T, NM_024339.5:c.727C>T, NM_024339.4:c.727C>T, NM_024339.3:c.727C>T, NM_001142350.3:c.727C>T, NM_001142350.2:c.727C>T, NM_001142350.1:c.727C>T, NM_001347704.2:c.727C>T, NM_001347704.1:c.727C>T, NM_001347703.2:c.655C>T, NM_001347703.1:c.655C>T, NP_077315.2:p.Leu243Phe, NP_001135822.1:p.Leu243Phe, NP_001334633.1:p.Leu243Phe, NP_001334632.1:p.Leu219Phe

Select item 148785021812.

rs1487850218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3023569 (GRCh38)
16:3073570 (GRCh37)
Canonical SPDI:: NC_000016.10:3023568:G:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.3023569G>A, NC_000016.9:g.3073570G>A, NG_052595.1:g.4551G>A

Select item 148770110613.

rs1487701106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:3022159 (GRCh38)
16:3072160 (GRCh37)
Canonical SPDI:: NC_000016.10:3022158:G:C
Gene:: TNFRSF12A (Varview), HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_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_000016.10:g.3022159G>C, NC_000016.9:g.3072160G>C, NG_052595.1:g.3141G>C, NM_016639.3:c.*333G>C, NM_016639.2:c.*333G>C

Select item 148588257214.

rs1485882572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:3025756 (GRCh38)
16:3075757 (GRCh37)
Canonical SPDI:: NC_000016.10:3025755:C:G
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3025756C>G, NC_000016.9:g.3075757C>G, NG_052595.1:g.6738C>G, NM_024339.5:c.88C>G, NM_024339.4:c.88C>G, NM_024339.3:c.88C>G, NM_001142350.3:c.88C>G, NM_001142350.2:c.88C>G, NM_001142350.1:c.88C>G, NM_001347704.2:c.88C>G, NM_001347704.1:c.88C>G, NM_001347703.2:c.16C>G, NM_001347703.1:c.16C>G, NP_077315.2:p.Gln30Glu, NP_001135822.1:p.Gln30Glu, NP_001334633.1:p.Gln30Glu, NP_001334632.1:p.Gln6Glu

Select item 148406400515.

rs1484064005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3028126 (GRCh38)
16:3078127 (GRCh37)
Canonical SPDI:: NC_000016.10:3028125:T:C
Gene:: THOC6 (Varview), BICDL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3028126T>C, NC_000016.9:g.3078127T>C, NG_052595.1:g.9108T>C, XM_005255135.5:c.1507A>G, XM_005255135.4:c.1507A>G, XM_005255135.3:c.1507A>G, XM_005255135.2:c.1507A>G, XM_005255135.1:c.1507A>G, XM_011522391.3:c.1312A>G, XM_011522391.2:c.1312A>G, XM_011522391.1:c.1312A>G, NM_001103175.2:c.1507A>G, NM_001103175.1:c.1507A>G, NM_001369667.1:c.1507A>G, XP_005255192.1:p.Asn503Asp, XP_011520693.1:p.Asn438Asp, NP_001096645.1:p.Asn503Asp, NP_001356596.1:p.Asn503Asp

Select item 148373745016.

rs1483737450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:3028062 (GRCh38)
16:3078063 (GRCh37)
Canonical SPDI:: NC_000016.10:3028061:A:G
Gene:: THOC6 (Varview), BICDL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000016.10:g.3028062A>G, NC_000016.9:g.3078063A>G, NG_052595.1:g.9044A>G, XM_005255135.5:c.*44T>C, XM_005255135.4:c.*44T>C, XM_005255135.3:c.*44T>C, XM_005255135.2:c.*44T>C, XM_005255135.1:c.*44T>C, XM_011522391.3:c.*44T>C, XM_011522391.2:c.*44T>C, XM_011522391.1:c.*44T>C, NM_001103175.2:c.*44T>C, NM_001103175.1:c.*44T>C, NM_001369667.1:c.*44T>C

Select item 148346367517.

rs1483463675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:3023899 (GRCh38)
16:3073900 (GRCh37)
Canonical SPDI:: NC_000016.10:3023898:C:A
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3023899C>A, NC_000016.9:g.3073900C>A, NG_052595.1:g.4881C>A, NM_017885.4:c.43G>T, NM_017885.3:c.43G>T, NM_017885.2:c.43G>T, NM_001002017.2:c.43G>T, NM_001002017.1:c.43G>T, NM_001002018.2:c.43G>T, NM_001002018.1:c.43G>T, XM_017023384.2:c.43G>T, XM_017023384.1:c.43G>T, NM_001288667.1:c.43G>T, NM_001288665.1:c.43G>T, NM_001288668.1:c.-259G>T, NM_001288666.1:c.43G>T, NP_060355.1:p.Ala15Ser, NP_001002017.1:p.Ala15Ser, NP_001002018.1:p.Ala15Ser, XP_016878873.1:p.Ala15Ser, NP_001275596.1:p.Ala15Ser, NP_001275594.1:p.Ala15Ser, NP_001275595.1:p.Ala15Ser

Select item 148325339418.

rs1483253394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3025391 (GRCh38)
16:3075392 (GRCh37)
Canonical SPDI:: NC_000016.10:3025390:T:C
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.3025391T>C, NC_000016.9:g.3075392T>C, NG_052595.1:g.6373T>C

Select item 148260213219.

rs1482602132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:3024667 (GRCh38)
16:3074668 (GRCh37)
Canonical SPDI:: NC_000016.10:3024666:C:G,NC_000016.10:3024666:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.3024667C>G, NC_000016.10:g.3024667C>T, NC_000016.9:g.3074668C>G, NC_000016.9:g.3074668C>T, NG_052595.1:g.5649C>G, NG_052595.1:g.5649C>T

Select item 148192205620.

rs1481922056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3025846 (GRCh38)
16:3075847 (GRCh37)
Canonical SPDI:: NC_000016.10:3025845:C:T
Gene:: HCFC1R1 (Varview), THOC6 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3025846C>T, NC_000016.9:g.3075847C>T, NG_052595.1:g.6828C>T

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