SNP Links for Gene (Select 148423) - SNP

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Select item 14907466451.

rs1490746645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:85261189 (GRCh38)
1:85726872 (GRCh37)
Canonical SPDI:: NC_000001.11:85261188:G:C
Gene:: C1orf52 (Varview)
Functional Consequence:: upstream_transcript_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)
HGVS:: NC_000001.11:g.85261189G>C, NC_000001.10:g.85726872G>C

Select item 14905426792.

rs1490542679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:85254400 (GRCh38)
1:85720083 (GRCh37)
Canonical SPDI:: NC_000001.11:85254399:T:G
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_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.85254400T>G, NC_000001.10:g.85720083T>G

Select item 14902298893.

rs1490229889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:85252308 (GRCh38)
1:85717991 (GRCh37)
Canonical SPDI:: NC_000001.11:85252307:C:T
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.85252308C>T, NC_000001.10:g.85717991C>T, NM_198077.4:c.*321G>A, NM_198077.3:c.*321G>A, NR_024113.2:n.1026G>A, NR_024113.1:n.1036G>A

Select item 14901392744.

rs1490139274 [Homo sapiens]

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

Select item 14895544355.

rs1489554435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:85257682 (GRCh38)
1:85723365 (GRCh37)
Canonical SPDI:: NC_000001.11:85257681:G:A
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.85257682G>A, NC_000001.10:g.85723365G>A

Select item 14891729726.

rs1489172972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:85250373 (GRCh38)
1:85716056 (GRCh37)
Canonical SPDI:: NC_000001.11:85250372:A:C
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.85250373A>C, NC_000001.10:g.85716056A>C, NM_198077.4:c.*2256T>G, NM_198077.3:c.*2256T>G, NR_024113.2:n.2961T>G, NR_024113.1:n.2971T>G

Select item 14889877057.

rs1488987705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:85259406 (GRCh38)
1:85725089 (GRCh37)
Canonical SPDI:: NC_000001.11:85259405:G:A
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.85259406G>A, NC_000001.10:g.85725089G>A, NM_198077.4:c.228C>T, NM_198077.3:c.228C>T, NR_024113.2:n.257C>T, NR_024113.1:n.267C>T

Select item 14888471868.

rs1488847186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:85251361 (GRCh38)
1:85717044 (GRCh37)
Canonical SPDI:: NC_000001.11:85251360:T:C
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.85251361T>C, NC_000001.10:g.85717044T>C, NM_198077.4:c.*1268A>G, NM_198077.3:c.*1268A>G, NR_024113.2:n.1973A>G, NR_024113.1:n.1983A>G

Select item 14887731719.

rs1488773171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:85259660 (GRCh38)
1:85725343 (GRCh37)
Canonical SPDI:: NC_000001.11:85259659:T:G
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.85259660T>G, NC_000001.10:g.85725343T>G, NM_198077.4:c.-27A>C, NM_198077.3:c.-27A>C, NR_024113.2:n.3A>C, NR_024113.1:n.13A>C

Select item 148836145810.

rs1488361458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:85255453 (GRCh38)
1:85721136 (GRCh37)
Canonical SPDI:: NC_000001.11:85255452:G:A
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.85255453G>A, NC_000001.10:g.85721136G>A

Select item 148810643611.

rs1488106436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:85261601 (GRCh38)
1:85727284 (GRCh37)
Canonical SPDI:: NC_000001.11:85261600:A:G
Gene:: C1orf52 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.85261601A>G, NC_000001.10:g.85727284A>G

Select item 148790902712.

rs1487909027 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>- [Show Flanks]
Chromosome:: 1:85258420 (GRCh38)
1:85724103 (GRCh37)
Canonical SPDI:: NC_000001.11:85258417:GTTTGT:GT
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
-=0.000083/22 (TOPMED)
-=0.000093/13 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.85258420_85258423del, NC_000001.10:g.85724103_85724106del

Select item 148785318013.

rs1487853180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:85258076 (GRCh38)
1:85723759 (GRCh37)
Canonical SPDI:: NC_000001.11:85258075:C:T
Gene:: C1orf52 (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_000001.11:g.85258076C>T, NC_000001.10:g.85723759C>T

Select item 148762502914.

rs1487625029 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:85259559 (GRCh38)
1:85725242 (GRCh37)
Canonical SPDI:: NC_000001.11:85259553:TCCTCCTC:TCCTC
Gene:: C1orf52 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.85259556CTC[1], NC_000001.10:g.85725239CTC[1], NM_198077.4:c.75GGA[1], NM_198077.3:c.75GGA[1], NR_024113.2:n.104GGA[1], NR_024113.1:n.114GGA[1], NP_932343.1:p.Glu26del

Select item 148760388015.

rs1487603880 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:85252616 (GRCh38)
1:85718299 (GRCh37)
Canonical SPDI:: NC_000001.11:85252615:T:
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.85252616del, NC_000001.10:g.85718299del, NM_198077.4:c.*13del, NM_198077.3:c.*13del, NR_024113.2:n.718del, NR_024113.1:n.728del

Select item 148720707516.

rs1487207075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:85252529 (GRCh38)
1:85718212 (GRCh37)
Canonical SPDI:: NC_000001.11:85252528:T:C
Gene:: C1orf52 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00005/7 (GnomAD)
C=0.000121/32 (TOPMED)
C=0.001027/3 (KOREAN)
C=0.001416/24 (TOMMO)
C=0.003275/6 (Korea1K)
HGVS:: NC_000001.11:g.85252529T>C, NC_000001.10:g.85718212T>C, NM_198077.4:c.*100A>G, NM_198077.3:c.*100A>G, NR_024113.2:n.805A>G, NR_024113.1:n.815A>G

Select item 148706616617.

rs1487066166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:85256857 (GRCh38)
1:85722540 (GRCh37)
Canonical SPDI:: NC_000001.11:85256856:T:C
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_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_000001.11:g.85256857T>C, NC_000001.10:g.85722540T>C

Select item 148664954318.

rs1486649543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:85257315 (GRCh38)
1:85722998 (GRCh37)
Canonical SPDI:: NC_000001.11:85257314:G:A
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.85257315G>A, NC_000001.10:g.85722998G>A

Select item 148659826819.

rs1486598268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:85258215 (GRCh38)
1:85723898 (GRCh37)
Canonical SPDI:: NC_000001.11:85258214:T:C
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.85258215T>C, NC_000001.10:g.85723898T>C

Select item 148553227020.

rs1485532270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:85258735 (GRCh38)
1:85724418 (GRCh37)
Canonical SPDI:: NC_000001.11:85258734:C:T
Gene:: C1orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.85258735C>T, NC_000001.10:g.85724418C>T

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