SNP Links for Gene (Select 388588) - SNP

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Select item 14911976341.

rs1491197634 [Homo sapiens]

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

Select item 14900567962.

rs1490056796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3776025 (GRCh38)
1:3692589 (GRCh37)
Canonical SPDI:: NC_000001.11:3776024:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000001.11:g.3776025C>T, NC_000001.10:g.3692589C>T, NG_033869.1:g.8265C>T

Select item 14897772773.

rs1489777277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:3771104 (GRCh38)
1:3687668 (GRCh37)
Canonical SPDI:: NC_000001.11:3771103:T:A,NC_000001.11:3771103:T:C
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3771104T>A, NC_000001.11:g.3771104T>C, NC_000001.10:g.3687668T>A, NC_000001.10:g.3687668T>C, NG_033869.1:g.3344T>A, NG_033869.1:g.3344T>C

Select item 14897156334.

rs1489715633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:3775680 (GRCh38)
1:3692244 (GRCh37)
Canonical SPDI:: NC_000001.11:3775679:T:G
Gene:: SMIM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.3775680T>G, NC_000001.10:g.3692244T>G, NG_033869.1:g.7920T>G

Select item 14895811375.

rs1489581137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:3772723 (GRCh38)
1:3689287 (GRCh37)
Canonical SPDI:: NC_000001.11:3772722:C:G
Gene:: SMIM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.3772723C>G, NC_000001.10:g.3689287C>G, NG_033869.1:g.4963C>G

Select item 14886009236.

rs1488600923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3773015 (GRCh38)
1:3689579 (GRCh37)
Canonical SPDI:: NC_000001.11:3773014:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.3773015C>T, NC_000001.10:g.3689579C>T, NG_033869.1:g.5255C>T, XM_047420003.1:c.-242C>T

Select item 14885265537.

rs1488526553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:3772073 (GRCh38)
1:3688637 (GRCh37)
Canonical SPDI:: NC_000001.11:3772072:C:G
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3772073C>G, NC_000001.10:g.3688637C>G, NG_033869.1:g.4313C>G

Select item 14878031338.

rs1487803133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:3771863 (GRCh38)
1:3688427 (GRCh37)
Canonical SPDI:: NC_000001.11:3771862:G:C
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.3771863G>C, NC_000001.10:g.3688427G>C, NG_033869.1:g.4103G>C

Select item 14867740979.

rs1486774097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3775706 (GRCh38)
1:3692270 (GRCh37)
Canonical SPDI:: NC_000001.11:3775705:C:T
Gene:: SMIM1 (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)
T=0.000156/1 (1000Genomes)
T=0.000342/1 (KOREAN)
T=0.000495/8 (TOMMO)
HGVS:: NC_000001.11:g.3775706C>T, NC_000001.10:g.3692270C>T, NG_033869.1:g.7946C>T

Select item 148635473910.

rs1486354739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:3771774 (GRCh38)
1:3688338 (GRCh37)
Canonical SPDI:: NC_000001.11:3771773:A:G
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.3771774A>G, NC_000001.10:g.3688338A>G, NG_033869.1:g.4014A>G

Select item 148630530811.

rs1486305308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:3770876 (GRCh38)
1:3687440 (GRCh37)
Canonical SPDI:: NC_000001.11:3770875:T:C
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.3770876T>C, NC_000001.10:g.3687440T>C, NG_033869.1:g.3116T>C

Select item 148543449212.

rs1485434492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:3771693 (GRCh38)
1:3688257 (GRCh37)
Canonical SPDI:: NC_000001.11:3771692:C:A
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.3771693C>A, NC_000001.10:g.3688257C>A, NG_033869.1:g.3933C>A

Select item 148532484913.

rs1485324849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:3774287 (GRCh38)
1:3690851 (GRCh37)
Canonical SPDI:: NC_000001.11:3774286:C:A
Gene:: SMIM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.3774287C>A, NC_000001.10:g.3690851C>A, NG_033869.1:g.6527C>A

Select item 148515109014.

rs1485151090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:3775365 (GRCh38)
1:3691929 (GRCh37)
Canonical SPDI:: NC_000001.11:3775364:C:A,NC_000001.11:3775364:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.3775365C>A, NC_000001.11:g.3775365C>T, NC_000001.10:g.3691929C>A, NC_000001.10:g.3691929C>T, NG_033869.1:g.7605C>A, NG_033869.1:g.7605C>T, NM_001163724.3:c.-9C>A, NM_001163724.3:c.-9C>T, NM_001163724.2:c.-9C>A, NM_001163724.2:c.-9C>T, NM_001163724.1:c.-9C>A, NM_001163724.1:c.-9C>T, NM_001288583.2:c.-9C>A, NM_001288583.2:c.-9C>T, NM_001288583.1:c.-9C>A, NM_001288583.1:c.-9C>T, NM_001379690.1:c.-9C>A, NM_001379690.1:c.-9C>T, NM_001379691.1:c.-9C>A, NM_001379691.1:c.-9C>T, XM_047420003.1:c.-9C>A, XM_047420003.1:c.-9C>T, NR_024432.1:n.240C>A, NR_024432.1:n.240C>T

Select item 148500485815.

rs1485004858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3773376 (GRCh38)
1:3689940 (GRCh37)
Canonical SPDI:: NC_000001.11:3773375:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.3773376C>T, NC_000001.10:g.3689940C>T, NG_033869.1:g.5616C>T

Select item 148498067916.

rs1484980679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:3771382 (GRCh38)
1:3687946 (GRCh37)
Canonical SPDI:: NC_000001.11:3771381:G:A
Gene:: CCDC27 (Varview), SMIM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.3771382G>A, NC_000001.10:g.3687946G>A, NG_033869.1:g.3622G>A

Select item 148491131017.

rs1484911310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3772651 (GRCh38)
1:3689215 (GRCh37)
Canonical SPDI:: NC_000001.11:3772650:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.3772651C>T, NC_000001.10:g.3689215C>T, NG_033869.1:g.4891C>T

Select item 148488335818.

rs1484883358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:3774009 (GRCh38)
1:3690573 (GRCh37)
Canonical SPDI:: NC_000001.11:3774008:C:G,NC_000001.11:3774008:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3774009C>G, NC_000001.11:g.3774009C>T, NC_000001.10:g.3690573C>G, NC_000001.10:g.3690573C>T, NG_033869.1:g.6249C>G, NG_033869.1:g.6249C>T

Select item 148481855019.

rs1484818550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3774046 (GRCh38)
1:3690610 (GRCh37)
Canonical SPDI:: NC_000001.11:3774045:C:T
Gene:: SMIM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.3774046C>T, NC_000001.10:g.3690610C>T, NG_033869.1:g.6286C>T

Select item 148476781520.

rs1484767815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:3772358 (GRCh38)
1:3688922 (GRCh37)
Canonical SPDI:: NC_000001.11:3772357:G:A
Gene:: SMIM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3772358G>A, NC_000001.10:g.3688922G>A, NG_033869.1:g.4598G>A

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