SNP Links for Gene (Select 653820) - SNP

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Select item 14914672981.

rs1491467298 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:121186390 (GRCh38)
1:120836933 (GRCh37)
Canonical SPDI:: NC_000001.11:121186388:CAC:C
Gene:: SRGAP2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.02647/314 (ALFA)
-=0.00756/12 (Korea1K)
GT=0.99599/11438 (TOMMO)
HGVS:: NC_000001.11:g.121186390_121186391del, NW_003871056.3:g.1257964_1257965del, NC_000001.10:g.120836933_120836934del

Select item 14914118142.

rs1491411814 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:121173185 (GRCh38)
1:120850142 (GRCh37)
Canonical SPDI:: NC_000001.11:121173185::A
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00007/1 (GnomAD)
HGVS:: NC_000001.11:g.121173185_121173186insA, NW_003871056.3:g.1244759_1244760insA, NC_000001.10:g.120850141_120850142insT

Select item 14913964383.

rs1491396438 has merged into rs199877959 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 1:121173198 (GRCh38)
1:120850138 (GRCh37)
Canonical SPDI:: NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
AA=0.4233/2120 (1000Genomes)
HGVS:: NC_000001.11:g.121173198_121173202del, NC_000001.11:g.121173199_121173202del, NC_000001.11:g.121173200_121173202del, NC_000001.11:g.121173201_121173202del, NC_000001.11:g.121173202del, NC_000001.11:g.121173202dup, NC_000001.11:g.121173201_121173202dup, NC_000001.11:g.121173200_121173202dup, NC_000001.11:g.121173199_121173202dup, NC_000001.11:g.121173198_121173202dup, NW_003871056.3:g.1244772_1244776del, NW_003871056.3:g.1244773_1244776del, NW_003871056.3:g.1244774_1244776del, NW_003871056.3:g.1244775_1244776del, NW_003871056.3:g.1244776del, NW_003871056.3:g.1244776dup, NW_003871056.3:g.1244775_1244776dup, NW_003871056.3:g.1244774_1244776dup, NW_003871056.3:g.1244773_1244776dup, NW_003871056.3:g.1244772_1244776dup, NC_000001.10:g.120850138_120850142del, NC_000001.10:g.120850139_120850142del, NC_000001.10:g.120850140_120850142del, NC_000001.10:g.120850141_120850142del, NC_000001.10:g.120850142del, NC_000001.10:g.120850142dup, NC_000001.10:g.120850141_120850142dup, NC_000001.10:g.120850140_120850142dup, NC_000001.10:g.120850139_120850142dup, NC_000001.10:g.120850138_120850142dup

Select item 14913071454.

rs1491307145 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:121186389 (GRCh38)
1:120836933 (GRCh37)
Canonical SPDI:: NC_000001.11:121186389:A:AA
Gene:: SRGAP2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.121186390dup, NW_003871056.3:g.1257964dup, NC_000001.10:g.120836933dup

Select item 14912270935.

rs1491227093 has merged into rs199877959 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 1:121173198 (GRCh38)
1:120850138 (GRCh37)
Canonical SPDI:: NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:121173184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
AA=0.4233/2120 (1000Genomes)
HGVS:: NC_000001.11:g.121173198_121173202del, NC_000001.11:g.121173199_121173202del, NC_000001.11:g.121173200_121173202del, NC_000001.11:g.121173201_121173202del, NC_000001.11:g.121173202del, NC_000001.11:g.121173202dup, NC_000001.11:g.121173201_121173202dup, NC_000001.11:g.121173200_121173202dup, NC_000001.11:g.121173199_121173202dup, NC_000001.11:g.121173198_121173202dup, NW_003871056.3:g.1244772_1244776del, NW_003871056.3:g.1244773_1244776del, NW_003871056.3:g.1244774_1244776del, NW_003871056.3:g.1244775_1244776del, NW_003871056.3:g.1244776del, NW_003871056.3:g.1244776dup, NW_003871056.3:g.1244775_1244776dup, NW_003871056.3:g.1244774_1244776dup, NW_003871056.3:g.1244773_1244776dup, NW_003871056.3:g.1244772_1244776dup, NC_000001.10:g.120850138_120850142del, NC_000001.10:g.120850139_120850142del, NC_000001.10:g.120850140_120850142del, NC_000001.10:g.120850141_120850142del, NC_000001.10:g.120850142del, NC_000001.10:g.120850142dup, NC_000001.10:g.120850141_120850142dup, NC_000001.10:g.120850140_120850142dup, NC_000001.10:g.120850139_120850142dup, NC_000001.10:g.120850138_120850142dup

Select item 14911295776.

rs1491129577 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:121173184 (GRCh38)
1:120850142 (GRCh37)
Canonical SPDI:: NC_000001.11:121173183:AT:
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00028/5 (TOMMO)
HGVS:: NC_000001.11:g.121173184_121173185del, NW_003871056.3:g.1244758_1244759del, NC_000001.10:g.120850142_120850143del

Select item 14910146577.

rs1491014657 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:121179845 (GRCh38)
1:120843478 (GRCh37)
Canonical SPDI:: NC_000001.11:121179843:AGA:A
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00733/87 (ALFA)
HGVS:: NC_000001.11:g.121179845_121179846del, NW_003871056.3:g.1251419_1251420del, NC_000001.10:g.120843478_120843479del

Select item 14909758758.

rs1490975875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:121174444 (GRCh38)
1:120848883 (GRCh37)
Canonical SPDI:: NC_000001.11:121174443:C:T
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000054/7 (GnomAD)
A=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.121174444C>T, NW_003871056.3:g.1246018C>T, NC_000001.10:g.120848883G>A

Select item 14908598039.

rs1490859803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:121188102 (GRCh38)
1:120835221 (GRCh37)
Canonical SPDI:: NC_000001.11:121188101:A:G
Gene:: SRGAP2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.121188102A>G, NW_003871056.3:g.1259676A>G, NC_000001.10:g.120835221T>C

Select item 149084400810.

rs1490844008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:121175100 (GRCh38)
1:120848227 (GRCh37)
Canonical SPDI:: NC_000001.11:121175099:T:A
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.121175100T>A, NW_003871056.3:g.1246674T>A, NC_000001.10:g.120848227A>T

Select item 149057505111.

rs1490575051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:121167525 (GRCh38)
1:120855802 (GRCh37)
Canonical SPDI:: NC_000001.11:121167524:A:T
Gene:: FAM72B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00027/5 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.000298/79 (TOPMED)
T=0.000314/44 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.001638/3 (Korea1K)
HGVS:: NC_000001.11:g.121167525A>T, NW_003871056.3:g.1239099A>T, NC_000001.10:g.120855802T>A

Select item 149055934512.

rs1490559345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:121168477 (GRCh38)
1:120854850 (GRCh37)
Canonical SPDI:: NC_000001.11:121168476:G:A,NC_000001.11:121168476:G:T
Gene:: FAM72B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.121168477G>A, NC_000001.11:g.121168477G>T, NW_003871056.3:g.1240051G>A, NW_003871056.3:g.1240051G>T, NC_000001.10:g.120854850C>T, NC_000001.10:g.120854850C>A, NM_001100910.2:c.*264C>T, NM_001100910.2:c.*264C>A, NM_001100910.1:c.*264C>T, NM_001100910.1:c.*264C>A, NM_001320149.2:c.*264C>T, NM_001320149.2:c.*264C>A, NM_001320149.1:c.*264C>T, NM_001320149.1:c.*264C>A

Select item 149048371913.

rs1490483719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:121174140 (GRCh38)
1:120849187 (GRCh37)
Canonical SPDI:: NC_000001.11:121174139:C:G
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.121174140C>G, NW_003871056.3:g.1245714C>G, NC_000001.10:g.120849187G>C

Select item 149039911114.

rs1490399111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:121186684 (GRCh38)
1:120836639 (GRCh37)
Canonical SPDI:: NC_000001.11:121186683:G:A,NC_000001.11:121186683:G:T
Gene:: SRGAP2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.121186684G>A, NC_000001.11:g.121186684G>T, NW_003871056.3:g.1258258G>A, NW_003871056.3:g.1258258G>T, NC_000001.10:g.120836639C>T, NC_000001.10:g.120836639C>A

Select item 149036909715.

rs1490369097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:121187722 (GRCh38)
1:120835601 (GRCh37)
Canonical SPDI:: NC_000001.11:121187721:G:T
Gene:: SRGAP2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.121187722G>T, NW_003871056.3:g.1259296G>T, NC_000001.10:g.120835601C>A

Select item 149035111016.

rs1490351110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:121174718 (GRCh38)
1:120848609 (GRCh37)
Canonical SPDI:: NC_000001.11:121174717:G:A
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.121174718G>A, NW_003871056.3:g.1246292G>A, NC_000001.10:g.120848609C>T

Select item 149028486017.

rs1490284860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:121180895 (GRCh38)
1:120842428 (GRCh37)
Canonical SPDI:: NC_000001.11:121180894:A:C,NC_000001.11:121180894:A:G
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.121180895A>C, NC_000001.11:g.121180895A>G, NW_003871056.3:g.1252469A>C, NW_003871056.3:g.1252469A>G, NC_000001.10:g.120842428T>G, NC_000001.10:g.120842428T>C

Select item 149009385818.

rs1490093858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:121167172 (GRCh38)
1:120856155 (GRCh37)
Canonical SPDI:: NC_000001.11:121167171:T:A
Gene:: FAM72B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000001.11:g.121167172T>A, NW_003871056.3:g.1238746T>A, NC_000001.10:g.120856155A>T

Select item 149006639319.

rs1490066393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:121180112 (GRCh38)
1:120843211 (GRCh37)
Canonical SPDI:: NC_000001.11:121180111:G:A
Gene:: FAM72B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.121180112G>A, NW_003871056.3:g.1251686G>A, NC_000001.10:g.120843211C>T

Select item 149002784520.

rs1490027845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:121167243 (GRCh38)
1:120856084 (GRCh37)
Canonical SPDI:: NC_000001.11:121167242:C:A,NC_000001.11:121167242:C:G,NC_000001.11:121167242:C:T
Gene:: FAM72B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.121167243C>A, NC_000001.11:g.121167243C>G, NC_000001.11:g.121167243C>T, NW_003871056.3:g.1238817C>A, NW_003871056.3:g.1238817C>G, NW_003871056.3:g.1238817C>T, NC_000001.10:g.120856084G>T, NC_000001.10:g.120856084G>C, NC_000001.10:g.120856084G>A

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