SNP Links for Gene (Select 768239) - SNP

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Links from Gene

Items: 1 to 20 of 2376

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Select item 14912384771.

rs1491238477 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:7432130 (GRCh38)
4:7433857 (GRCh37)
Canonical SPDI:: NC_000004.12:7432129:AC:
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000376/52 (GnomAD)
HGVS:: NC_000004.12:g.7432130_7432131del, NC_000004.11:g.7433857_7433858del, NM_001085382.2:c.*1183_*1184del, NM_001085382.1:c.*1183_*1184del

Select item 14906378432.

rs1490637843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7435775 (GRCh38)
4:7437502 (GRCh37)
Canonical SPDI:: NC_000004.12:7435774:C:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.7435775C>T, NC_000004.11:g.7437502C>T

Select item 14902234783.

rs1490223478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7430202 (GRCh38)
4:7431929 (GRCh37)
Canonical SPDI:: NC_000004.12:7430201:C:G
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7430202C>G, NC_000004.11:g.7431929C>G

Select item 14895179094.

rs1489517909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7436003 (GRCh38)
4:7437730 (GRCh37)
Canonical SPDI:: NC_000004.12:7436002:A:G
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.7436003A>G, NC_000004.11:g.7437730A>G

Select item 14884083765.

rs1488408376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:7431927 (GRCh38)
4:7433654 (GRCh37)
Canonical SPDI:: NC_000004.12:7431926:C:A
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7431927C>A, NC_000004.11:g.7433654C>A, NM_001085382.2:c.*1387G>T, NM_001085382.1:c.*1387G>T

Select item 14882534796.

rs1488253479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7433921 (GRCh38)
4:7435648 (GRCh37)
Canonical SPDI:: NC_000004.12:7433920:G:A
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7433921G>A, NC_000004.11:g.7435648G>A, NM_001085382.2:c.959C>T, NM_001085382.1:c.959C>T, NP_001078851.1:p.Ala320Val

Select item 14881822477.

rs1488182247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7434451 (GRCh38)
4:7436178 (GRCh37)
Canonical SPDI:: NC_000004.12:7434450:C:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7434451C>T, NC_000004.11:g.7436178C>T, NM_001085382.2:c.429G>A, NM_001085382.1:c.429G>A

Select item 14870188888.

rs1487018888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7436874 (GRCh38)
4:7438601 (GRCh37)
Canonical SPDI:: NC_000004.12:7436873:G:A
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.7436874G>A, NC_000004.11:g.7438601G>A

Select item 14868553199.

rs1486855319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:7431504 (GRCh38)
4:7433231 (GRCh37)
Canonical SPDI:: NC_000004.12:7431503:T:G
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_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_000004.12:g.7431504T>G, NC_000004.11:g.7433231T>G, NM_001085382.2:c.*1810A>C, NM_001085382.1:c.*1810A>C

Select item 148683597910.

rs1486835979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7431875 (GRCh38)
4:7433602 (GRCh37)
Canonical SPDI:: NC_000004.12:7431874:G:A
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000038/10 (TOPMED)
A=0.000389/7 (TOMMO)
HGVS:: NC_000004.12:g.7431875G>A, NC_000004.11:g.7433602G>A, NM_001085382.2:c.*1439C>T, NM_001085382.1:c.*1439C>T

Select item 148552060911.

rs1485520609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:7433083 (GRCh38)
4:7434810 (GRCh37)
Canonical SPDI:: NC_000004.12:7433082:G:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,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_000004.12:g.7433083G>T, NC_000004.11:g.7434810G>T, NM_001085382.2:c.*231C>A, NM_001085382.1:c.*231C>A

Select item 148513982312.

rs1485139823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7432528 (GRCh38)
4:7434255 (GRCh37)
Canonical SPDI:: NC_000004.12:7432527:C:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.7432528C>T, NC_000004.11:g.7434255C>T, NM_001085382.2:c.*786G>A, NM_001085382.1:c.*786G>A

Select item 148404813513.

rs1484048135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7430920 (GRCh38)
4:7432647 (GRCh37)
Canonical SPDI:: NC_000004.12:7430919:G:A
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.7430920G>A, NC_000004.11:g.7432647G>A, NM_001085382.2:c.*2394C>T, NM_001085382.1:c.*2394C>T

Select item 148357908814.

rs1483579088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:7432132 (GRCh38)
4:7433859 (GRCh37)
Canonical SPDI:: NC_000004.12:7432131:C:A,NC_000004.12:7432131:C:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000004.12:g.7432132C>A, NC_000004.12:g.7432132C>T, NC_000004.11:g.7433859C>A, NC_000004.11:g.7433859C>T, NM_001085382.2:c.*1182G>T, NM_001085382.2:c.*1182G>A, NM_001085382.1:c.*1182G>T, NM_001085382.1:c.*1182G>A

Select item 148351036315.

rs1483510363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:7434351 (GRCh38)
4:7436078 (GRCh37)
Canonical SPDI:: NC_000004.12:7434350:G:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.7434351G>T, NC_000004.11:g.7436078G>T, NM_001085382.2:c.529C>A, NM_001085382.1:c.529C>A, NP_001078851.1:p.Gln177Lys

Select item 148323524616.

rs1483235246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:7434001 (GRCh38)
4:7435728 (GRCh37)
Canonical SPDI:: NC_000004.12:7434000:G:C,NC_000004.12:7434000:G:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.7434001G>C, NC_000004.12:g.7434001G>T, NC_000004.11:g.7435728G>C, NC_000004.11:g.7435728G>T, NM_001085382.2:c.879C>G, NM_001085382.2:c.879C>A, NM_001085382.1:c.879C>G, NM_001085382.1:c.879C>A

Select item 148241614817.

rs1482416148 [Homo sapiens]

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

Select item 148235540618.

rs1482355406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:7431585 (GRCh38)
4:7433312 (GRCh37)
Canonical SPDI:: NC_000004.12:7431584:G:A,NC_000004.12:7431584:G:T
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7431585G>A, NC_000004.12:g.7431585G>T, NC_000004.11:g.7433312G>A, NC_000004.11:g.7433312G>T, NM_001085382.2:c.*1729C>T, NM_001085382.2:c.*1729C>A, NM_001085382.1:c.*1729C>T, NM_001085382.1:c.*1729C>A

Select item 148224572219.

rs1482245722 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGCACCGGGGCGAGGTGG [Show Flanks]
Chromosome:: 4:7432155 (GRCh38)
4:7433883 (GRCh37)
Canonical SPDI:: NC_000004.12:7432155:GGGGGCACCGGGGCGAGGTGG:GGGGGCACCGGGGCGAGGTGGGGGCACCGGGGCGAGGTGG
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGGGCACCGGGGCGAGGTGGGGGCACCGGGGCGAGGTGG=0./0 (ALFA)
HGVS:: NC_000004.12:g.7432158_7432176dup, NC_000004.11:g.7433885_7433903dup, NM_001085382.2:c.*1140_*1158dup, NM_001085382.1:c.*1140_*1158dup

Select item 148203758020.

rs1482037580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:7436864 (GRCh38)
4:7438591 (GRCh37)
Canonical SPDI:: NC_000004.12:7436863:T:C
Gene:: SORCS2 (Varview), PSAPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.7436864T>C, NC_000004.11:g.7438591T>C

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