SNP Links for Gene (Select 644994) - SNP

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Select item 14914145391.

rs1491414539 has merged into rs4041455 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:171778468 (GRCh38)
5:171205472 (GRCh37)
Canonical SPDI:: NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:171778447:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACA=0./0 (ALFA)
CACA=0.3201/1603 (1000Genomes)
HGVS:: NC_000005.10:g.171778448CA[10], NC_000005.10:g.171778448CA[11], NC_000005.10:g.171778448CA[12], NC_000005.10:g.171778448CA[13], NC_000005.10:g.171778448CA[14], NC_000005.10:g.171778448CA[15], NC_000005.10:g.171778448CA[16], NC_000005.10:g.171778448CA[17], NC_000005.10:g.171778448CA[18], NC_000005.10:g.171778448CA[19], NC_000005.10:g.171778448CA[20], NC_000005.10:g.171778448CA[21], NC_000005.10:g.171778448CA[22], NC_000005.10:g.171778448CA[24], NC_000005.10:g.171778448CA[25], NC_000005.10:g.171778448CA[26], NC_000005.10:g.171778448CA[27], NC_000005.10:g.171778448CA[28], NC_000005.10:g.171778448CA[29], NC_000005.10:g.171778448CA[31], NC_000005.9:g.171205452CA[10], NC_000005.9:g.171205452CA[11], NC_000005.9:g.171205452CA[12], NC_000005.9:g.171205452CA[13], NC_000005.9:g.171205452CA[14], NC_000005.9:g.171205452CA[15], NC_000005.9:g.171205452CA[16], NC_000005.9:g.171205452CA[17], NC_000005.9:g.171205452CA[18], NC_000005.9:g.171205452CA[19], NC_000005.9:g.171205452CA[20], NC_000005.9:g.171205452CA[21], NC_000005.9:g.171205452CA[22], NC_000005.9:g.171205452CA[24], NC_000005.9:g.171205452CA[25], NC_000005.9:g.171205452CA[26], NC_000005.9:g.171205452CA[27], NC_000005.9:g.171205452CA[28], NC_000005.9:g.171205452CA[29], NC_000005.9:g.171205452CA[31]

Select item 14913416002.

rs1491341600 has merged into rs34740868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 5:171785175 (GRCh38)
5:171212179 (GRCh37)
Canonical SPDI:: NC_000005.10:171785157:ACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:171785157:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:171785157:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:171785157:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:171785157:ACACACACACACACACACACA:ACACACACACACACACACACACACACA
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
AC=0.02/12 (NorthernSweden)
AC=0.025/1 (GENOME_DK)
AC=0.02605/26 (GoNL)
AC=0.06542/14 (Vietnamese)
AC=0.15815/792 (1000Genomes)
HGVS:: NC_000005.10:g.171785159CA[8], NC_000005.10:g.171785159CA[9], NC_000005.10:g.171785159CA[11], NC_000005.10:g.171785159CA[12], NC_000005.10:g.171785159CA[13], NC_000005.9:g.171212163CA[8], NC_000005.9:g.171212163CA[9], NC_000005.9:g.171212163CA[11], NC_000005.9:g.171212163CA[12], NC_000005.9:g.171212163CA[13]

Select item 14912829353.

rs1491282935 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:171787935 (GRCh38)
5:171214939 (GRCh37)
Canonical SPDI:: NC_000005.10:171787934:AT:
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.171787935_171787936del, NC_000005.9:g.171214939_171214940del

Select item 14911691734.

rs1491169173 [Homo sapiens]

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

Select item 14909529485.

rs1490952948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:171776560 (GRCh38)
5:171203564 (GRCh37)
Canonical SPDI:: NC_000005.10:171776559:G:A
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.171776560G>A, NC_000005.9:g.171203564G>A

Select item 14902017316.

rs1490201731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:171780853 (GRCh38)
5:171207857 (GRCh37)
Canonical SPDI:: NC_000005.10:171780852:T:C
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.171780853T>C, NC_000005.9:g.171207857T>C, NG_083911.1:g.157T>C

Select item 14898847317.

rs1489884731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:171778989 (GRCh38)
5:171205993 (GRCh37)
Canonical SPDI:: NC_000005.10:171778988:C:T
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000005.10:g.171778989C>T, NC_000005.9:g.171205993C>T

Select item 14897740468.

rs1489774046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:171785218 (GRCh38)
5:171212222 (GRCh37)
Canonical SPDI:: NC_000005.10:171785217:G:C
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.171785218G>C, NC_000005.9:g.171212222G>C

Select item 14892875569.

rs1489287556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:171785938 (GRCh38)
5:171212942 (GRCh37)
Canonical SPDI:: NC_000005.10:171785937:G:A,NC_000005.10:171785937:G:C
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.171785938G>A, NC_000005.10:g.171785938G>C, NC_000005.9:g.171212942G>A, NC_000005.9:g.171212942G>C, NM_001289970.2:c.67G>A, NM_001289970.2:c.67G>C, NM_001289970.1:c.67G>A, NM_001289970.1:c.67G>C, XM_011534622.1:c.67G>A, XM_011534622.1:c.67G>C, NP_001276899.1:p.Glu23Lys, NP_001276899.1:p.Glu23Gln, XP_011532924.1:p.Glu23Lys, XP_011532924.1:p.Glu23Gln

Select item 148886099610.

rs1488860996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:171771749 (GRCh38)
5:171198753 (GRCh37)
Canonical SPDI:: NC_000005.10:171771748:C:G
Gene:: SMIM23 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.171771749C>G, NC_000005.9:g.171198753C>G

Select item 148866623411.

rs1488666234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:171771409 (GRCh38)
5:171198413 (GRCh37)
Canonical SPDI:: NC_000005.10:171771408:A:G
Gene:: SMIM23 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.171771409A>G, NC_000005.9:g.171198413A>G

Select item 148861080712.

rs1488610807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:171778472 (GRCh38)
5:171205476 (GRCh37)
Canonical SPDI:: NC_000005.10:171778471:C:A,NC_000005.10:171778471:C:G,NC_000005.10:171778471:C:T
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.171778472C>A, NC_000005.10:g.171778472C>G, NC_000005.10:g.171778472C>T, NC_000005.9:g.171205476C>A, NC_000005.9:g.171205476C>G, NC_000005.9:g.171205476C>T

Select item 148855948613.

rs1488559486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:171778491 (GRCh38)
5:171205495 (GRCh37)
Canonical SPDI:: NC_000005.10:171778490:A:T
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.171778491A>T, NC_000005.9:g.171205495A>T

Select item 148835458414.

rs1488354584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:171784998 (GRCh38)
5:171212002 (GRCh37)
Canonical SPDI:: NC_000005.10:171784997:G:A
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.171784998G>A, NC_000005.9:g.171212002G>A

Select item 148820528715.

rs1488205287 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:171788502 (GRCh38)
5:171215506 (GRCh37)
Canonical SPDI:: NC_000005.10:171788501:TTTTTT:TTTTT,NC_000005.10:171788501:TTTTTT:TTTTTTT
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.000071/1 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.171788507del, NC_000005.10:g.171788507dup, NC_000005.9:g.171215511del, NC_000005.9:g.171215511dup

Select item 148791524016.

rs1487915240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:171786947 (GRCh38)
5:171213951 (GRCh37)
Canonical SPDI:: NC_000005.10:171786946:A:C,NC_000005.10:171786946:A:G
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.171786947A>C, NC_000005.10:g.171786947A>G, NC_000005.9:g.171213951A>C, NC_000005.9:g.171213951A>G

Select item 148775134817.

rs1487751348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:171776260 (GRCh38)
5:171203264 (GRCh37)
Canonical SPDI:: NC_000005.10:171776259:G:A
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.171776260G>A, NC_000005.9:g.171203264G>A

Select item 148768638718.

rs1487686387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:171777713 (GRCh38)
5:171204717 (GRCh37)
Canonical SPDI:: NC_000005.10:171777712:C:A
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.171777713C>A, NC_000005.9:g.171204717C>A

Select item 148767564519.

rs1487675645 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:171776468 (GRCh38)
5:171203472 (GRCh37)
Canonical SPDI:: NC_000005.10:171776467:CC:C
Gene:: SMIM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.171776469del, NC_000005.9:g.171203473del

Select item 148759164220.

rs1487591642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:171787210 (GRCh38)
5:171214214 (GRCh37)
Canonical SPDI:: NC_000005.10:171787209:G:A
Gene:: SMIM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.171787210G>A, NC_000005.9:g.171214214G>A

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