SNP Links for Gene (Select 285237) - SNP

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Select item 14903266381.

rs1490326638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:88156907 (GRCh38)
3:88206057 (GRCh37)
Canonical SPDI:: NC_000003.12:88156906:C:T
Gene:: C3orf38 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.88156907C>T, NC_000003.11:g.88206057C>T, XM_005264745.6:c.*272C>T, XM_005264745.5:c.*272C>T, XM_005264745.4:c.*272C>T, XM_005264745.3:c.*272C>T, XM_005264745.2:c.*272C>T, XM_005264745.1:c.*272C>T, NM_173824.4:c.*272C>T, NM_173824.3:c.*272C>T

Select item 14898387492.

rs1489838749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:88147971 (GRCh38)
3:88197121 (GRCh37)
Canonical SPDI:: NC_000003.12:88147970:G:C,NC_000003.12:88147970:G:T
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.88147971G>C, NC_000003.12:g.88147971G>T, NC_000003.11:g.88197121G>C, NC_000003.11:g.88197121G>T

Select item 14895883313.

rs1489588331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:88149161 (GRCh38)
3:88198311 (GRCh37)
Canonical SPDI:: NC_000003.12:88149160:A:T
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000283/5 (TOMMO)
HGVS:: NC_000003.12:g.88149161A>T, NC_000003.11:g.88198311A>T

Select item 14895079754.

rs1489507975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:88151737 (GRCh38)
3:88200887 (GRCh37)
Canonical SPDI:: NC_000003.12:88151736:A:G
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.003765/11 (KOREAN)
G=0.008734/16 (Korea1K)
G=0.01182/198 (TOMMO)
HGVS:: NC_000003.12:g.88151737A>G, NC_000003.11:g.88200887A>G

Select item 14892730545.

rs1489273054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:88147992 (GRCh38)
3:88197142 (GRCh37)
Canonical SPDI:: NC_000003.12:88147991:T:A
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.88147992T>A, NC_000003.11:g.88197142T>A

Select item 14892220026.

rs1489222002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88157468 (GRCh38)
3:88206618 (GRCh37)
Canonical SPDI:: NC_000003.12:88157467:T:C
Gene:: C3orf38 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.88157468T>C, NC_000003.11:g.88206618T>C, XM_005264745.6:c.*833T>C, XM_005264745.5:c.*833T>C, XM_005264745.4:c.*833T>C, XM_005264745.3:c.*833T>C, XM_005264745.2:c.*833T>C, XM_005264745.1:c.*833T>C, NM_173824.4:c.*833T>C, NM_173824.3:c.*833T>C

Select item 14892198197.

rs1489219819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:88150381 (GRCh38)
3:88199531 (GRCh37)
Canonical SPDI:: NC_000003.12:88150380:A:G
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.88150381A>G, NC_000003.11:g.88199531A>G

Select item 14890985268.

rs1489098526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:88156033 (GRCh38)
3:88205183 (GRCh37)
Canonical SPDI:: NC_000003.12:88156032:G:A,NC_000003.12:88156032:G:C
Gene:: C3orf38 (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)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88156033G>A, NC_000003.12:g.88156033G>C, NC_000003.11:g.88205183G>A, NC_000003.11:g.88205183G>C, XM_005264745.6:c.385G>A, XM_005264745.6:c.385G>C, XM_005264745.5:c.385G>A, XM_005264745.5:c.385G>C, XM_005264745.4:c.385G>A, XM_005264745.4:c.385G>C, XM_005264745.3:c.385G>A, XM_005264745.3:c.385G>C, XM_005264745.2:c.385G>A, XM_005264745.2:c.385G>C, XM_005264745.1:c.385G>A, XM_005264745.1:c.385G>C, NM_173824.4:c.388G>A, NM_173824.4:c.388G>C, NM_173824.3:c.388G>A, NM_173824.3:c.388G>C, XP_005264802.1:p.Asp129Asn, XP_005264802.1:p.Asp129His, NP_776185.2:p.Asp130Asn, NP_776185.2:p.Asp130His

Select item 14890784379.

rs1489078437 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:88155980 (GRCh38)
3:88205130 (GRCh37)
Canonical SPDI:: NC_000003.12:88155979:CC:C
Gene:: C3orf38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000006/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.88155981del, NC_000003.11:g.88205131del

Select item 148901219410.

rs1489012194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:88157421 (GRCh38)
3:88206571 (GRCh37)
Canonical SPDI:: NC_000003.12:88157420:G:A,NC_000003.12:88157420:G:C
Gene:: C3orf38 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000003.12:g.88157421G>A, NC_000003.12:g.88157421G>C, NC_000003.11:g.88206571G>A, NC_000003.11:g.88206571G>C, XM_005264745.6:c.*786G>A, XM_005264745.6:c.*786G>C, XM_005264745.5:c.*786G>A, XM_005264745.5:c.*786G>C, XM_005264745.4:c.*786G>A, XM_005264745.4:c.*786G>C, XM_005264745.3:c.*786G>A, XM_005264745.3:c.*786G>C, XM_005264745.2:c.*786G>A, XM_005264745.2:c.*786G>C, XM_005264745.1:c.*786G>A, XM_005264745.1:c.*786G>C, NM_173824.4:c.*786G>A, NM_173824.4:c.*786G>C, NM_173824.3:c.*786G>A, NM_173824.3:c.*786G>C

Select item 148890220211.

rs1488902202 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:88149193 (GRCh38)
3:88198344 (GRCh37)
Canonical SPDI:: NC_000003.12:88149193:CCCC:CCCCC
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000003.12:g.88149197dup, NC_000003.11:g.88198347dup

Select item 148854647612.

rs1488546476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:88153083 (GRCh38)
3:88202233 (GRCh37)
Canonical SPDI:: NC_000003.12:88153082:C:T
Gene:: C3orf38 (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_000003.12:g.88153083C>T, NC_000003.11:g.88202233C>T

Select item 148791149613.

rs1487911496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:88154091 (GRCh38)
3:88203241 (GRCh37)
Canonical SPDI:: NC_000003.12:88154090:G:A
Gene:: C3orf38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000003.12:g.88154091G>A, NC_000003.11:g.88203241G>A

Select item 148763418214.

rs1487634182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:88149991 (GRCh38)
3:88199141 (GRCh37)
Canonical SPDI:: NC_000003.12:88149990:G:T
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.88149991G>T, NC_000003.11:g.88199141G>T, XM_005264745.6:c.-62G>T, XM_005264745.4:c.-62G>T, XM_005264745.3:c.-62G>T, XM_005264745.2:c.-62G>T, XM_005264745.1:c.-62G>T, NM_173824.4:c.-62G>T, NM_173824.3:c.-63G>T

Select item 148746333415.

rs1487463334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:88153217 (GRCh38)
3:88202367 (GRCh37)
Canonical SPDI:: NC_000003.12:88153216:A:G
Gene:: C3orf38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88153217A>G, NC_000003.11:g.88202367A>G

Select item 148735820616.

rs1487358206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:88154524 (GRCh38)
3:88203674 (GRCh37)
Canonical SPDI:: NC_000003.12:88154523:C:A
Gene:: C3orf38 (Varview)
Functional Consequence:: intron_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_000003.12:g.88154524C>A, NC_000003.11:g.88203674C>A

Select item 148689169817.

rs1486891698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:88151058 (GRCh38)
3:88200208 (GRCh37)
Canonical SPDI:: NC_000003.12:88151057:C:A,NC_000003.12:88151057:C:T
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.88151058C>A, NC_000003.12:g.88151058C>T, NC_000003.11:g.88200208C>A, NC_000003.11:g.88200208C>T

Select item 148669435518.

rs1486694355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88155372 (GRCh38)
3:88204522 (GRCh37)
Canonical SPDI:: NC_000003.12:88155371:T:C
Gene:: C3orf38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.88155372T>C, NC_000003.11:g.88204522T>C

Select item 148657298519.

rs1486572985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88158428 (GRCh38)
3:88207578 (GRCh37)
Canonical SPDI:: NC_000003.12:88158427:T:C
Gene:: C3orf38 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000003.12:g.88158428T>C, NC_000003.11:g.88207578T>C

Select item 148606856320.

rs1486068563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:88150665 (GRCh38)
3:88199815 (GRCh37)
Canonical SPDI:: NC_000003.12:88150664:G:A,NC_000003.12:88150664:G:T
Gene:: CGGBP1 (Varview), C3orf38 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.88150665G>A, NC_000003.12:g.88150665G>T, NC_000003.11:g.88199815G>A, NC_000003.11:g.88199815G>T