SNP Links for Gene (Select 100129083) - SNP

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Select item 14911005341.

rs1491100534 has merged into rs375392809 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:51416188 (GRCh38)
19:51919442 (GRCh37)
Canonical SPDI:: NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAA,NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAAA,NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:51416180:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00667/4 (NorthernSweden)
A=0.025/1 (GENOME_DK)
HGVS:: NC_000019.10:g.51416188_51416192del, NC_000019.10:g.51416189_51416192del, NC_000019.10:g.51416190_51416192del, NC_000019.10:g.51416191_51416192del, NC_000019.10:g.51416192del, NC_000019.10:g.51416192dup, NC_000019.10:g.51416191_51416192dup, NC_000019.9:g.51919442_51919446del, NC_000019.9:g.51919443_51919446del, NC_000019.9:g.51919444_51919446del, NC_000019.9:g.51919445_51919446del, NC_000019.9:g.51919446del, NC_000019.9:g.51919446dup, NC_000019.9:g.51919445_51919446dup

Select item 14908069362.

rs1490806936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:51416420 (GRCh38)
19:51919674 (GRCh37)
Canonical SPDI:: NC_000019.10:51416419:C:A
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.51416420C>A, NC_000019.9:g.51919674C>A

Select item 14907889463.

rs1490788946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51413726 (GRCh38)
19:51916980 (GRCh37)
Canonical SPDI:: NC_000019.10:51413725:T:C
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51413726T>C, NC_000019.9:g.51916980T>C, XM_005259366.6:c.1537A>G, XM_005259366.5:c.1537A>G, XM_005259366.4:c.1537A>G, XM_005259366.3:c.1537A>G, XM_005259366.2:c.1537A>G, XM_005259366.1:c.1537A>G, NM_033130.5:c.1807A>G, NM_033130.4:c.1807A>G, XM_005259367.5:c.1363A>G, XM_005259367.4:c.1363A>G, XM_005259367.3:c.1363A>G, XM_005259367.2:c.1363A>G, XM_005259367.1:c.1363A>G, NM_001171156.2:c.1633A>G, NM_001171156.1:c.1633A>G, NM_001171157.2:c.1522A>G, NM_001171157.1:c.1522A>G, NM_001171158.2:c.1378A>G, NM_001171158.1:c.1378A>G, NM_001171159.2:c.1348A>G, NM_001171159.1:c.1348A>G, NM_001322105.2:c.1252A>G, NM_001322105.1:c.1252A>G, NM_001171161.2:c.1078A>G, NM_001171161.1:c.1078A>G, XM_047439600.1:c.1708A>G, XM_047439604.1:c.1663A>G, XM_047439601.1:c.1564A>G, XM_047439602.1:c.1534A>G, XM_047439603.1:c.1423A>G, XM_047439605.1:c.1249A>G, NM_001171160.1:c.1273A>G, XP_005259423.1:p.Thr513Ala, NP_149121.2:p.Thr603Ala, XP_005259424.1:p.Thr455Ala, NP_001164627.1:p.Thr545Ala, NP_001164628.1:p.Thr508Ala, NP_001164629.1:p.Thr460Ala, NP_001164630.1:p.Thr450Ala, NP_001309034.1:p.Thr418Ala, NP_001164632.1:p.Thr360Ala, XP_047295556.1:p.Thr570Ala, XP_047295560.1:p.Thr555Ala, XP_047295557.1:p.Thr522Ala, XP_047295558.1:p.Thr512Ala, XP_047295559.1:p.Thr475Ala, XP_047295561.1:p.Thr417Ala

Select item 14895725424.

rs1489572542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51418214 (GRCh38)
19:51921468 (GRCh37)
Canonical SPDI:: NC_000019.10:51418213:T:C
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.51418214T>C, NC_000019.9:g.51921468T>C

Select item 14894602225.

rs1489460222 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATCC>- [Show Flanks]
Chromosome:: 19:51415679 (GRCh38)
19:51918933 (GRCh37)
Canonical SPDI:: NC_000019.10:51415677:CCATCC:C
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.51415679_51415683del, NC_000019.9:g.51918933_51918937del

Select item 14888628216.

rs1488862821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51415425 (GRCh38)
19:51918679 (GRCh37)
Canonical SPDI:: NC_000019.10:51415424:A:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.51415425A>G, NC_000019.9:g.51918679A>G, XM_005259366.6:c.816T>C, XM_005259366.5:c.816T>C, XM_005259366.4:c.816T>C, XM_005259366.3:c.816T>C, XM_005259366.2:c.816T>C, XM_005259366.1:c.816T>C, NM_033130.5:c.1086T>C, NM_033130.4:c.1086T>C, XM_005259367.5:c.642T>C, XM_005259367.4:c.642T>C, XM_005259367.3:c.642T>C, XM_005259367.2:c.642T>C, XM_005259367.1:c.642T>C, NM_001171156.2:c.912T>C, NM_001171156.1:c.912T>C, NM_001171157.2:c.1086T>C, NM_001171157.1:c.1086T>C, NM_001171158.2:c.942T>C, NM_001171158.1:c.942T>C, NM_001171159.2:c.912T>C, NM_001171159.1:c.912T>C, NM_001322105.2:c.816T>C, NM_001322105.1:c.816T>C, NM_001171161.2:c.642T>C, NM_001171161.1:c.642T>C, XM_047439600.1:c.987T>C, XM_047439604.1:c.942T>C, XM_047439601.1:c.843T>C, XM_047439602.1:c.813T>C, XM_047439603.1:c.987T>C, XM_047439605.1:c.813T>C, NM_001171160.1:c.837T>C

Select item 14888020307.

rs1488802030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51414573 (GRCh38)
19:51917827 (GRCh37)
Canonical SPDI:: NC_000019.10:51414572:G:A
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.51414573G>A, NC_000019.9:g.51917827G>A

Select item 14882519228.

rs1488251922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51414475 (GRCh38)
19:51917729 (GRCh37)
Canonical SPDI:: NC_000019.10:51414474:C:T
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.51414475C>T, NC_000019.9:g.51917729C>T, XM_005259366.6:c.1386G>A, XM_005259366.5:c.1386G>A, XM_005259366.4:c.1386G>A, XM_005259366.3:c.1386G>A, XM_005259366.2:c.1386G>A, XM_005259366.1:c.1386G>A, NM_033130.5:c.1656G>A, NM_033130.4:c.1656G>A, XM_005259367.5:c.1212G>A, XM_005259367.4:c.1212G>A, XM_005259367.3:c.1212G>A, XM_005259367.2:c.1212G>A, XM_005259367.1:c.1212G>A, NM_001171156.2:c.1482G>A, NM_001171156.1:c.1482G>A, NM_001171157.2:c.1371G>A, NM_001171157.1:c.1371G>A, NM_001171158.2:c.1227G>A, NM_001171158.1:c.1227G>A, NM_001171159.2:c.1197G>A, NM_001171159.1:c.1197G>A, NM_001322105.2:c.1101G>A, NM_001322105.1:c.1101G>A, NM_001171161.2:c.927G>A, NM_001171161.1:c.927G>A, XM_047439600.1:c.1557G>A, XM_047439604.1:c.1512G>A, XM_047439601.1:c.1413G>A, XM_047439602.1:c.1383G>A, XM_047439603.1:c.1272G>A, XM_047439605.1:c.1098G>A, NM_001171160.1:c.1122G>A

Select item 14879680459.

rs1487968045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51417227 (GRCh38)
19:51920481 (GRCh37)
Canonical SPDI:: NC_000019.10:51417226:G:A
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51417227G>A, NC_000019.9:g.51920481G>A, XM_005259366.6:c.276C>T, XM_005259366.5:c.276C>T, XM_005259366.4:c.276C>T, XM_005259366.3:c.276C>T, XM_005259366.2:c.276C>T, XM_005259366.1:c.276C>T, NM_033130.5:c.276C>T, NM_033130.4:c.276C>T, XM_005259367.5:c.276C>T, XM_005259367.4:c.276C>T, XM_005259367.3:c.276C>T, XM_005259367.2:c.276C>T, XM_005259367.1:c.276C>T, NM_001171156.2:c.276C>T, NM_001171156.1:c.276C>T, NM_001171157.2:c.276C>T, NM_001171157.1:c.276C>T, NM_001171158.2:c.276C>T, NM_001171158.1:c.276C>T, NM_001171159.2:c.276C>T, NM_001171159.1:c.276C>T, NM_001322105.2:c.276C>T, NM_001322105.1:c.276C>T, NM_001171161.2:c.276C>T, NM_001171161.1:c.276C>T, NM_001256795.2:c.*64G>A, XM_047439600.1:c.177C>T, XM_047439604.1:c.276C>T, XM_047439601.1:c.177C>T, XM_047439602.1:c.177C>T, XM_047439603.1:c.177C>T, XM_047439605.1:c.177C>T, NR_164125.1:n.807G>A, NR_164124.1:n.713G>A, NM_001256795.1:c.*64G>A, NM_001171160.1:c.276C>T, NR_033235.1:n.531G>A

Select item 148783835010.

rs1487838350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51414148 (GRCh38)
19:51917402 (GRCh37)
Canonical SPDI:: NC_000019.10:51414147:T:C
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.51414148T>C, NC_000019.9:g.51917402T>C

Select item 148770693311.

rs1487706933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:51417123 (GRCh38)
19:51920377 (GRCh37)
Canonical SPDI:: NC_000019.10:51417122:C:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51417123C>G, NC_000019.9:g.51920377C>G, XM_005259366.6:c.380G>C, XM_005259366.5:c.380G>C, XM_005259366.4:c.380G>C, XM_005259366.3:c.380G>C, XM_005259366.2:c.380G>C, XM_005259366.1:c.380G>C, NM_033130.5:c.380G>C, NM_033130.4:c.380G>C, XM_005259367.5:c.380G>C, XM_005259367.4:c.380G>C, XM_005259367.3:c.380G>C, XM_005259367.2:c.380G>C, XM_005259367.1:c.380G>C, NM_001171156.2:c.380G>C, NM_001171156.1:c.380G>C, NM_001171157.2:c.380G>C, NM_001171157.1:c.380G>C, NM_001171158.2:c.380G>C, NM_001171158.1:c.380G>C, NM_001171159.2:c.380G>C, NM_001171159.1:c.380G>C, NM_001322105.2:c.380G>C, NM_001322105.1:c.380G>C, NM_001171161.2:c.380G>C, NM_001171161.1:c.380G>C, XM_047439600.1:c.281G>C, XM_047439604.1:c.380G>C, XM_047439601.1:c.281G>C, XM_047439602.1:c.281G>C, XM_047439603.1:c.281G>C, XM_047439605.1:c.281G>C, NM_001171160.1:c.380G>C, XP_005259423.1:p.Arg127Thr, NP_149121.2:p.Arg127Thr, XP_005259424.1:p.Arg127Thr, NP_001164627.1:p.Arg127Thr, NP_001164628.1:p.Arg127Thr, NP_001164629.1:p.Arg127Thr, NP_001164630.1:p.Arg127Thr, NP_001309034.1:p.Arg127Thr, NP_001164632.1:p.Arg127Thr, XP_047295556.1:p.Arg94Thr, XP_047295560.1:p.Arg127Thr, XP_047295557.1:p.Arg94Thr, XP_047295558.1:p.Arg94Thr, XP_047295559.1:p.Arg94Thr, XP_047295561.1:p.Arg94Thr

Select item 148643961912.

rs1486439619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:51416635 (GRCh38)
19:51919889 (GRCh37)
Canonical SPDI:: NC_000019.10:51416634:T:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51416635T>G, NC_000019.9:g.51919889T>G, NM_001256795.2:c.221T>G, NR_164125.1:n.616T>G, NR_164124.1:n.522T>G, NM_001256795.1:c.221T>G, NR_033235.1:n.340T>G

Select item 148609773113.

rs1486097731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51415457 (GRCh38)
19:51918711 (GRCh37)
Canonical SPDI:: NC_000019.10:51415456:G:A
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.51415457G>A, NC_000019.9:g.51918711G>A

Select item 148591651414.

rs1485916514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51414339 (GRCh38)
19:51917593 (GRCh37)
Canonical SPDI:: NC_000019.10:51414338:C:T
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.51414339C>T, NC_000019.9:g.51917593C>T

Select item 148496413215.

rs1484964132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51415591 (GRCh38)
19:51918845 (GRCh37)
Canonical SPDI:: NC_000019.10:51415590:A:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51415591A>G, NC_000019.9:g.51918845A>G, XM_005259366.6:c.779T>C, XM_005259366.5:c.779T>C, XM_005259366.4:c.779T>C, XM_005259366.3:c.779T>C, XM_005259366.2:c.779T>C, XM_005259366.1:c.779T>C, NM_033130.5:c.1049T>C, NM_033130.4:c.1049T>C, XM_005259367.5:c.605T>C, XM_005259367.4:c.605T>C, XM_005259367.3:c.605T>C, XM_005259367.2:c.605T>C, XM_005259367.1:c.605T>C, NM_001171156.2:c.875T>C, NM_001171156.1:c.875T>C, NM_001171157.2:c.1049T>C, NM_001171157.1:c.1049T>C, NM_001171158.2:c.905T>C, NM_001171158.1:c.905T>C, NM_001171159.2:c.875T>C, NM_001171159.1:c.875T>C, NM_001322105.2:c.779T>C, NM_001322105.1:c.779T>C, NM_001171161.2:c.605T>C, NM_001171161.1:c.605T>C, XM_047439600.1:c.950T>C, XM_047439604.1:c.905T>C, XM_047439601.1:c.806T>C, XM_047439602.1:c.776T>C, XM_047439603.1:c.950T>C, XM_047439605.1:c.776T>C, NM_001171160.1:c.800T>C, XP_005259423.1:p.Met260Thr, NP_149121.2:p.Met350Thr, XP_005259424.1:p.Met202Thr, NP_001164627.1:p.Met292Thr, NP_001164628.1:p.Met350Thr, NP_001164629.1:p.Met302Thr, NP_001164630.1:p.Met292Thr, NP_001309034.1:p.Met260Thr, NP_001164632.1:p.Met202Thr, XP_047295556.1:p.Met317Thr, XP_047295560.1:p.Met302Thr, XP_047295557.1:p.Met269Thr, XP_047295558.1:p.Met259Thr, XP_047295559.1:p.Met317Thr, XP_047295561.1:p.Met259Thr

Select item 148495532916.

rs1484955329 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCTAGGGCCCCAGGG [Show Flanks]
Chromosome:: 19:51415999 (GRCh38)
19:51919254 (GRCh37)
Canonical SPDI:: NC_000019.10:51415999:GCCCCAGGGGTCTAGGGCCCCAGGG:GCCCCAGGGGTCTAGGGCCCCAGGGGTCTAGGGCCCCAGGG
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_indel,stop_gained,intron_variant
Validated:: by frequency,by cluster
MAF:: GCCCCAGGGGTCTAGG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51416009_51416024dup, NC_000019.9:g.51919263_51919278dup, NM_033130.5:c.907_922dup, NM_033130.4:c.907_922dup, NM_001171156.2:c.733_748dup, NM_001171156.1:c.733_748dup, NM_001171157.2:c.907_922dup, NM_001171157.1:c.907_922dup, NM_001171158.2:c.763_778dup, NM_001171158.1:c.763_778dup, NM_001171159.2:c.733_748dup, NM_001171159.1:c.733_748dup, NM_001256795.2:c.-16_-1dup, XM_047439600.1:c.808_823dup, XM_047439604.1:c.763_778dup, XM_047439601.1:c.664_679dup, XM_047439602.1:c.634_649dup, XM_047439603.1:c.808_823dup, XM_047439605.1:c.634_649dup, NR_164125.1:n.286_301dup, NR_164124.1:n.286_301dup, NM_001256795.1:c.-16_-1dup, NM_001171160.1:c.658_673dup, NR_033235.1:n.104_119dup, NP_149121.2:p.Leu308delinsProTer, NP_001164627.1:p.Leu250delinsProTer, NP_001164628.1:p.Leu308delinsProTer, NP_001164629.1:p.Leu260delinsProTer, NP_001164630.1:p.Leu250delinsProTer, XP_047295556.1:p.Leu275delinsProTer, XP_047295560.1:p.Leu260delinsProTer, XP_047295557.1:p.Leu227delinsProTer, XP_047295558.1:p.Leu217delinsProTer, XP_047295559.1:p.Leu275delinsProTer, XP_047295561.1:p.Leu217delinsProTer

Select item 148493409817.

rs1484934098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51415020 (GRCh38)
19:51918274 (GRCh37)
Canonical SPDI:: NC_000019.10:51415019:A:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000013/3 (GnomAD_exomes)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.51415020A>G, NC_000019.9:g.51918274A>G, XM_005259366.6:c.1149T>C, XM_005259366.5:c.1149T>C, XM_005259366.4:c.1149T>C, XM_005259366.3:c.1149T>C, XM_005259366.2:c.1149T>C, XM_005259366.1:c.1149T>C, NM_033130.5:c.1419T>C, NM_033130.4:c.1419T>C, XM_005259367.5:c.975T>C, XM_005259367.4:c.975T>C, XM_005259367.3:c.975T>C, XM_005259367.2:c.975T>C, XM_005259367.1:c.975T>C, NM_001171156.2:c.1245T>C, NM_001171156.1:c.1245T>C, XM_047439600.1:c.1320T>C, XM_047439604.1:c.1275T>C, XM_047439601.1:c.1176T>C, XM_047439602.1:c.1146T>C

Select item 148492822118.

rs1484928221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:51417914 (GRCh38)
19:51921168 (GRCh37)
Canonical SPDI:: NC_000019.10:51417913:T:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00396/47 (ALFA)
G=0.00177/30 (TOMMO)
G=0.04071/117 (KOREAN)
HGVS:: NC_000019.10:g.51417914T>G, NC_000019.9:g.51921168T>G, NM_001256795.2:c.*751T>G, NR_164125.1:n.1494T>G, NR_164124.1:n.1400T>G

Select item 148492192219.

rs1484921922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51415248 (GRCh38)
19:51918502 (GRCh37)
Canonical SPDI:: NC_000019.10:51415247:T:C
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51415248T>C, NC_000019.9:g.51918502T>C, XM_005259366.6:c.993A>G, XM_005259366.5:c.993A>G, XM_005259366.4:c.993A>G, XM_005259366.3:c.993A>G, XM_005259366.2:c.993A>G, XM_005259366.1:c.993A>G, NM_033130.5:c.1263A>G, NM_033130.4:c.1263A>G, XM_005259367.5:c.819A>G, XM_005259367.4:c.819A>G, XM_005259367.3:c.819A>G, XM_005259367.2:c.819A>G, XM_005259367.1:c.819A>G, NM_001171156.2:c.1089A>G, NM_001171156.1:c.1089A>G, NM_001171157.2:c.1263A>G, NM_001171157.1:c.1263A>G, NM_001171158.2:c.1119A>G, NM_001171158.1:c.1119A>G, NM_001171159.2:c.1089A>G, NM_001171159.1:c.1089A>G, NM_001322105.2:c.993A>G, NM_001322105.1:c.993A>G, NM_001171161.2:c.819A>G, NM_001171161.1:c.819A>G, XM_047439600.1:c.1164A>G, XM_047439604.1:c.1119A>G, XM_047439601.1:c.1020A>G, XM_047439602.1:c.990A>G, XM_047439603.1:c.1164A>G, XM_047439605.1:c.990A>G, NM_001171160.1:c.1014A>G

Select item 148450085220.

rs1484500852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51414577 (GRCh38)
19:51917831 (GRCh37)
Canonical SPDI:: NC_000019.10:51414576:A:G
Gene:: SIGLEC10 (Varview), SIGLEC10-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.51414577A>G, NC_000019.9:g.51917831A>G

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