SNP Links for Gene (Select 105370148) - SNP

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Select item 14912435541.

rs1491243554 has merged into rs56012700 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 13:31166241 (GRCh38)
13:31740378 (GRCh37)
Canonical SPDI:: NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:31166224:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LOC105370148 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000013.11:g.31166225GT[8], NC_000013.11:g.31166225GT[10], NC_000013.11:g.31166225GT[11], NC_000013.11:g.31166225GT[12], NC_000013.11:g.31166225GT[13], NC_000013.11:g.31166225GT[14], NC_000013.11:g.31166225GT[15], NC_000013.11:g.31166225GT[17], NC_000013.11:g.31166225GT[18], NC_000013.11:g.31166225GT[19], NC_000013.11:g.31166225GT[20], NC_000013.11:g.31166225GT[21], NC_000013.11:g.31166225GT[22], NC_000013.11:g.31166225GT[23], NC_000013.11:g.31166225GT[24], NC_000013.11:g.31166225GT[25], NC_000013.11:g.31166225GT[26], NC_000013.11:g.31166225GT[27], NC_000013.11:g.31166225GT[28], NC_000013.11:g.31166225GT[29], NC_000013.11:g.31166225GT[30], NC_000013.11:g.31166225GT[31], NC_000013.10:g.31740362GT[8], NC_000013.10:g.31740362GT[10], NC_000013.10:g.31740362GT[11], NC_000013.10:g.31740362GT[12], NC_000013.10:g.31740362GT[13], NC_000013.10:g.31740362GT[14], NC_000013.10:g.31740362GT[15], NC_000013.10:g.31740362GT[17], NC_000013.10:g.31740362GT[18], NC_000013.10:g.31740362GT[19], NC_000013.10:g.31740362GT[20], NC_000013.10:g.31740362GT[21], NC_000013.10:g.31740362GT[22], NC_000013.10:g.31740362GT[23], NC_000013.10:g.31740362GT[24], NC_000013.10:g.31740362GT[25], NC_000013.10:g.31740362GT[26], NC_000013.10:g.31740362GT[27], NC_000013.10:g.31740362GT[28], NC_000013.10:g.31740362GT[29], NC_000013.10:g.31740362GT[30], NC_000013.10:g.31740362GT[31], NG_053051.1:g.1854AC[8], NG_053051.1:g.1854AC[10], NG_053051.1:g.1854AC[11], NG_053051.1:g.1854AC[12], NG_053051.1:g.1854AC[13], NG_053051.1:g.1854AC[14], NG_053051.1:g.1854AC[15], NG_053051.1:g.1854AC[17], NG_053051.1:g.1854AC[18], NG_053051.1:g.1854AC[19], NG_053051.1:g.1854AC[20], NG_053051.1:g.1854AC[21], NG_053051.1:g.1854AC[22], NG_053051.1:g.1854AC[23], NG_053051.1:g.1854AC[24], NG_053051.1:g.1854AC[25], NG_053051.1:g.1854AC[26], NG_053051.1:g.1854AC[27], NG_053051.1:g.1854AC[28], NG_053051.1:g.1854AC[29], NG_053051.1:g.1854AC[30], NG_053051.1:g.1854AC[31], XR_001749804.2:n.1898GT[8], XR_001749804.2:n.1898GT[10], XR_001749804.2:n.1898GT[11], XR_001749804.2:n.1898GT[12], XR_001749804.2:n.1898GT[13], XR_001749804.2:n.1898GT[14], XR_001749804.2:n.1898GT[15], XR_001749804.2:n.1898GT[17], XR_001749804.2:n.1898GT[18], XR_001749804.2:n.1898GT[19], XR_001749804.2:n.1898GT[20], XR_001749804.2:n.1898GT[21], XR_001749804.2:n.1898GT[22], XR_001749804.2:n.1898GT[23], XR_001749804.2:n.1898GT[24], XR_001749804.2:n.1898GT[25], XR_001749804.2:n.1898GT[26], XR_001749804.2:n.1898GT[27], XR_001749804.2:n.1898GT[28], XR_001749804.2:n.1898GT[29], XR_001749804.2:n.1898GT[30], XR_001749804.2:n.1898GT[31], XR_001749804.1:n.1933GT[8], XR_001749804.1:n.1933GT[10], XR_001749804.1:n.1933GT[11], XR_001749804.1:n.1933GT[12], XR_001749804.1:n.1933GT[13], XR_001749804.1:n.1933GT[14], XR_001749804.1:n.1933GT[15], XR_001749804.1:n.1933GT[17], XR_001749804.1:n.1933GT[18], XR_001749804.1:n.1933GT[19], XR_001749804.1:n.1933GT[20], XR_001749804.1:n.1933GT[21], XR_001749804.1:n.1933GT[22], XR_001749804.1:n.1933GT[23], XR_001749804.1:n.1933GT[24], XR_001749804.1:n.1933GT[25], XR_001749804.1:n.1933GT[26], XR_001749804.1:n.1933GT[27], XR_001749804.1:n.1933GT[28], XR_001749804.1:n.1933GT[29], XR_001749804.1:n.1933GT[30], XR_001749804.1:n.1933GT[31], XR_001749805.2:n.1881GT[8], XR_001749805.2:n.1881GT[10], XR_001749805.2:n.1881GT[11], XR_001749805.2:n.1881GT[12], XR_001749805.2:n.1881GT[13], XR_001749805.2:n.1881GT[14], XR_001749805.2:n.1881GT[15], XR_001749805.2:n.1881GT[17], XR_001749805.2:n.1881GT[18], XR_001749805.2:n.1881GT[19], XR_001749805.2:n.1881GT[20], XR_001749805.2:n.1881GT[21], XR_001749805.2:n.1881GT[22], XR_001749805.2:n.1881GT[23], XR_001749805.2:n.1881GT[24], XR_001749805.2:n.1881GT[25], XR_001749805.2:n.1881GT[26], XR_001749805.2:n.1881GT[27], XR_001749805.2:n.1881GT[28], XR_001749805.2:n.1881GT[29], XR_001749805.2:n.1881GT[30], XR_001749805.2:n.1881GT[31], XR_001749805.1:n.1916GT[8], XR_001749805.1:n.1916GT[10], XR_001749805.1:n.1916GT[11], XR_001749805.1:n.1916GT[12], XR_001749805.1:n.1916GT[13], XR_001749805.1:n.1916GT[14], XR_001749805.1:n.1916GT[15], XR_001749805.1:n.1916GT[17], XR_001749805.1:n.1916GT[18], XR_001749805.1:n.1916GT[19], XR_001749805.1:n.1916GT[20], XR_001749805.1:n.1916GT[21], XR_001749805.1:n.1916GT[22], XR_001749805.1:n.1916GT[23], XR_001749805.1:n.1916GT[24], XR_001749805.1:n.1916GT[25], XR_001749805.1:n.1916GT[26], XR_001749805.1:n.1916GT[27], XR_001749805.1:n.1916GT[28], XR_001749805.1:n.1916GT[29], XR_001749805.1:n.1916GT[30], XR_001749805.1:n.1916GT[31]

Select item 14907536222.

rs1490753622 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 13:31168531 (GRCh38)
13:31742668 (GRCh37)
Canonical SPDI:: NC_000013.11:31168530:GG:G
Gene:: LOC105370148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.31168532del, NC_000013.10:g.31742669del

Select item 14906382953.

rs1490638295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:31161667 (GRCh38)
13:31735804 (GRCh37)
Canonical SPDI:: NC_000013.11:31161666:C:A
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000013.11:g.31161667C>A, NC_000013.10:g.31735804C>A, NG_053051.1:g.6443G>T, NM_006644.4:c.-85G>T, NM_006644.3:c.-85G>T, NM_006644.2:c.-85G>T, NM_001286503.2:c.-85G>T, NM_001286503.1:c.-85G>T, NM_001349704.2:c.-85G>T, NM_001349704.1:c.-85G>T, XM_011534888.3:c.-85G>T, XM_011534888.2:c.-85G>T, XM_011534888.1:c.-85G>T, XM_017020364.3:c.-85G>T, XM_017020364.2:c.-85G>T, XM_017020364.1:c.-85G>T, XM_017020363.3:c.-85G>T, XM_017020363.2:c.-85G>T, XM_017020363.1:c.-85G>T, XM_047430058.1:c.-85G>T

Select item 14905403104.

rs1490540310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:31169001 (GRCh38)
13:31743138 (GRCh37)
Canonical SPDI:: NC_000013.11:31169000:T:C
Gene:: LOC105370148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.31169001T>C, NC_000013.10:g.31743138T>C

Select item 14904494175.

rs1490449417 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:31163832 (GRCh38)
13:31737969 (GRCh37)
Canonical SPDI:: NC_000013.11:31163831:G:
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000078/11 (GnomAD)
-=0.000113/30 (TOPMED)
HGVS:: NC_000013.11:g.31163832del, NC_000013.10:g.31737969del, NG_053051.1:g.4278del, XR_941825.3:n.1173del, XR_941825.2:n.1208del, XR_941825.1:n.1208del, XR_001749804.2:n.1173del, XR_001749804.1:n.1208del, XR_001749805.2:n.1173del, XR_001749805.1:n.1208del

Select item 14901727686.

rs1490172768 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 13:31162027 (GRCh38)
13:31736164 (GRCh37)
Canonical SPDI:: NC_000013.11:31162021:CTTCTTCT:CTTCT
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.31162024TCT[1], NC_000013.10:g.31736161TCT[1], NG_053051.1:g.6083AAG[1], NM_001286504.1:c.68AAG[1], NM_001286505.1:c.68AAG[1], XM_011534887.4:c.68AAG[1], XM_011534887.3:c.68AAG[1], XM_011534887.2:c.68AAG[1], XM_011534887.1:c.68AAG[1], XM_005266236.3:c.68AAG[1], XM_005266236.2:c.68AAG[1], XM_005266236.1:c.68AAG[1], XM_017020362.3:c.68AAG[1], XM_017020362.2:c.68AAG[1], XM_017020362.1:c.68AAG[1], NP_001273433.1:p.Glu24del, NP_001273434.1:p.Glu24del, XP_011533189.1:p.Glu24del, XP_005266293.1:p.Glu24del, XP_016875851.1:p.Glu24del

Select item 14901523787.

rs1490152378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:31161114 (GRCh38)
13:31735251 (GRCh37)
Canonical SPDI:: NC_000013.11:31161113:G:A,NC_000013.11:31161113:G:C
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.31161114G>A, NC_000013.11:g.31161114G>C, NC_000013.10:g.31735251G>A, NC_000013.10:g.31735251G>C, NG_053051.1:g.6996C>T, NG_053051.1:g.6996C>G

Select item 14901473838.

rs1490147383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:31162084 (GRCh38)
13:31736221 (GRCh37)
Canonical SPDI:: NC_000013.11:31162083:G:A,NC_000013.11:31162083:G:T
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.31162084G>A, NC_000013.11:g.31162084G>T, NC_000013.10:g.31736221G>A, NC_000013.10:g.31736221G>T, NG_053051.1:g.6026C>T, NG_053051.1:g.6026C>A, NM_001286504.1:c.11C>T, NM_001286504.1:c.11C>A, NM_001286505.1:c.11C>T, NM_001286505.1:c.11C>A, XM_011534887.4:c.11C>T, XM_011534887.4:c.11C>A, XM_011534887.3:c.11C>T, XM_011534887.3:c.11C>A, XM_011534887.2:c.11C>T, XM_011534887.2:c.11C>A, XM_011534887.1:c.11C>T, XM_011534887.1:c.11C>A, XM_005266236.3:c.11C>T, XM_005266236.3:c.11C>A, XM_005266236.2:c.11C>T, XM_005266236.2:c.11C>A, XM_005266236.1:c.11C>T, XM_005266236.1:c.11C>A, XM_017020362.3:c.11C>T, XM_017020362.3:c.11C>A, XM_017020362.2:c.11C>T, XM_017020362.2:c.11C>A, XM_017020362.1:c.11C>T, XM_017020362.1:c.11C>A, NP_001273433.1:p.Ala4Val, NP_001273433.1:p.Ala4Glu, NP_001273434.1:p.Ala4Val, NP_001273434.1:p.Ala4Glu, XP_011533189.1:p.Ala4Val, XP_011533189.1:p.Ala4Glu, XP_005266293.1:p.Ala4Val, XP_005266293.1:p.Ala4Glu, XP_016875851.1:p.Ala4Val, XP_016875851.1:p.Ala4Glu

Select item 14899906299.

rs1489990629 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 13:31160893 (GRCh38)
13:31735031 (GRCh37)
Canonical SPDI:: NC_000013.11:31160893:G:GAG
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAG=0.000071/1 (ALFA)
GA=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.31160894_31160895insAG, NC_000013.10:g.31735031_31735032insAG, NG_053051.1:g.7216_7217insTC

Select item 148995802210.

rs1489958022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:31165377 (GRCh38)
13:31739514 (GRCh37)
Canonical SPDI:: NC_000013.11:31165376:C:G
Gene:: LOC105370148 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.31165377C>G, NC_000013.10:g.31739514C>G, NG_053051.1:g.2733G>C

Select item 148960326811.

rs1489603268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:31163373 (GRCh38)
13:31737510 (GRCh37)
Canonical SPDI:: NC_000013.11:31163372:C:T
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.31163373C>T, NC_000013.10:g.31737510C>T, NG_053051.1:g.4737G>A, XR_941825.3:n.714C>T, XR_941825.2:n.749C>T, XR_941825.1:n.749C>T, XR_001749804.2:n.714C>T, XR_001749804.1:n.749C>T, XR_001749805.2:n.714C>T, XR_001749805.1:n.749C>T

Select item 148939024312.

rs1489390243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:31166168 (GRCh38)
13:31740305 (GRCh37)
Canonical SPDI:: NC_000013.11:31166167:T:C
Gene:: LOC105370148 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.31166168T>C, NC_000013.10:g.31740305T>C, NG_053051.1:g.1942A>G, XR_001749804.2:n.1841T>C, XR_001749804.1:n.1876T>C, XR_001749805.2:n.1824T>C, XR_001749805.1:n.1859T>C

Select item 148879866713.

rs1488798667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:31169755 (GRCh38)
13:31743892 (GRCh37)
Canonical SPDI:: NC_000013.11:31169754:T:G
Gene:: LOC105370148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000013.11:g.31169755T>G, NC_000013.10:g.31743892T>G

Select item 148820829914.

rs1488208299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:31168997 (GRCh38)
13:31743134 (GRCh37)
Canonical SPDI:: NC_000013.11:31168996:G:A,NC_000013.11:31168996:G:C
Gene:: LOC105370148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00005/7 (GnomAD)
A=0.000685/2 (KOREAN)
HGVS:: NC_000013.11:g.31168997G>A, NC_000013.11:g.31168997G>C, NC_000013.10:g.31743134G>A, NC_000013.10:g.31743134G>C

Select item 148788635815.

rs1487886358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:31160931 (GRCh38)
13:31735068 (GRCh37)
Canonical SPDI:: NC_000013.11:31160930:G:A
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_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_000013.11:g.31160931G>A, NC_000013.10:g.31735068G>A, NG_053051.1:g.7179C>T

Select item 148774250916.

rs1487742509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:31165742 (GRCh38)
13:31739879 (GRCh37)
Canonical SPDI:: NC_000013.11:31165741:G:A,NC_000013.11:31165741:G:T
Gene:: LOC105370148 (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)
A=0.000425/7 (TOMMO)
HGVS:: NC_000013.11:g.31165742G>A, NC_000013.11:g.31165742G>T, NC_000013.10:g.31739879G>A, NC_000013.10:g.31739879G>T, NG_053051.1:g.2368C>T, NG_053051.1:g.2368C>A

Select item 148770631617.

rs1487706316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:31161361 (GRCh38)
13:31735498 (GRCh37)
Canonical SPDI:: NC_000013.11:31161360:G:A
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.31161361G>A, NC_000013.10:g.31735498G>A, NG_053051.1:g.6749C>T

Select item 148763790018.

rs1487637900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:31161659 (GRCh38)
13:31735796 (GRCh37)
Canonical SPDI:: NC_000013.11:31161658:C:T
Gene:: HSPH1 (Varview), LOC105370148 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.31161659C>T, NC_000013.10:g.31735796C>T, NG_053051.1:g.6451G>A, NM_006644.4:c.-77G>A, NM_006644.3:c.-77G>A, NM_006644.2:c.-77G>A, NM_001286503.2:c.-77G>A, NM_001286503.1:c.-77G>A, NM_001349704.2:c.-77G>A, NM_001349704.1:c.-77G>A, XM_011534888.3:c.-77G>A, XM_011534888.2:c.-77G>A, XM_011534888.1:c.-77G>A, XM_017020364.3:c.-77G>A, XM_017020364.2:c.-77G>A, XM_017020364.1:c.-77G>A, XM_017020363.3:c.-77G>A, XM_017020363.2:c.-77G>A, XM_017020363.1:c.-77G>A, XM_047430058.1:c.-77G>A

Select item 148750051519.

rs1487500515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:31171912 (GRCh38)
13:31746049 (GRCh37)
Canonical SPDI:: NC_000013.11:31171911:C:T
Gene:: LOC105370148 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000093/13 (GnomAD)
T=0.000098/26 (TOPMED)
HGVS:: NC_000013.11:g.31171912C>T, NC_000013.10:g.31746049C>T

Select item 148718291120.

rs1487182911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:31169649 (GRCh38)
13:31743786 (GRCh37)
Canonical SPDI:: NC_000013.11:31169648:C:G
Gene:: LOC105370148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.31169649C>G, NC_000013.10:g.31743786C>G

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