SNP Links for Gene (Select 56951) - SNP

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Select item 14915894491.

rs1491589449 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:133969114 (GRCh38)
5:133304806 (GRCh37)
Canonical SPDI:: NC_000005.10:133969114::G
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.133969114_133969115insG, NC_000005.9:g.133304805_133304806insG

Select item 14914547992.

rs1491454799 has merged into rs397999300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:133959414 (GRCh38)
5:133295105 (GRCh37)
Canonical SPDI:: NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133959404:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.133959414_133959428del, NC_000005.10:g.133959415_133959428del, NC_000005.10:g.133959416_133959428del, NC_000005.10:g.133959417_133959428del, NC_000005.10:g.133959418_133959428del, NC_000005.10:g.133959419_133959428del, NC_000005.10:g.133959420_133959428del, NC_000005.10:g.133959421_133959428del, NC_000005.10:g.133959422_133959428del, NC_000005.10:g.133959423_133959428del, NC_000005.10:g.133959424_133959428del, NC_000005.10:g.133959425_133959428del, NC_000005.10:g.133959426_133959428del, NC_000005.10:g.133959427_133959428del, NC_000005.10:g.133959428del, NC_000005.10:g.133959428dup, NC_000005.10:g.133959427_133959428dup, NC_000005.10:g.133959426_133959428dup, NC_000005.10:g.133959425_133959428dup, NC_000005.10:g.133959424_133959428dup, NC_000005.10:g.133959423_133959428dup, NC_000005.10:g.133959422_133959428dup, NC_000005.10:g.133959421_133959428dup, NC_000005.10:g.133959420_133959428dup, NC_000005.10:g.133959419_133959428dup, NC_000005.10:g.133959418_133959428dup, NC_000005.10:g.133959417_133959428dup, NC_000005.10:g.133959416_133959428dup, NC_000005.10:g.133959415_133959428dup, NC_000005.10:g.133959411_133959428dup, NC_000005.10:g.133959405_133959428A[49]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.133959405_133959428A[30]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.133295105_133295119del, NC_000005.9:g.133295106_133295119del, NC_000005.9:g.133295107_133295119del, NC_000005.9:g.133295108_133295119del, NC_000005.9:g.133295109_133295119del, NC_000005.9:g.133295110_133295119del, NC_000005.9:g.133295111_133295119del, NC_000005.9:g.133295112_133295119del, NC_000005.9:g.133295113_133295119del, NC_000005.9:g.133295114_133295119del, NC_000005.9:g.133295115_133295119del, NC_000005.9:g.133295116_133295119del, NC_000005.9:g.133295117_133295119del, NC_000005.9:g.133295118_133295119del, NC_000005.9:g.133295119del, NC_000005.9:g.133295119dup, NC_000005.9:g.133295118_133295119dup, NC_000005.9:g.133295117_133295119dup, NC_000005.9:g.133295116_133295119dup, NC_000005.9:g.133295115_133295119dup, NC_000005.9:g.133295114_133295119dup, NC_000005.9:g.133295113_133295119dup, NC_000005.9:g.133295112_133295119dup, NC_000005.9:g.133295111_133295119dup, NC_000005.9:g.133295110_133295119dup, NC_000005.9:g.133295109_133295119dup, NC_000005.9:g.133295108_133295119dup, NC_000005.9:g.133295107_133295119dup, NC_000005.9:g.133295106_133295119dup, NC_000005.9:g.133295102_133295119dup, NC_000005.9:g.133295096_133295119A[49]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.133295096_133295119A[30]CAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914252063.

rs1491425206 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:133970161 (GRCh38)
5:133305852 (GRCh37)
Canonical SPDI:: NC_000005.10:133970160:TA:
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.133970161_133970162del, NC_000005.9:g.133305852_133305853del, NG_027817.2:g.39972_39973del, NR_134247.1:n.515_516del

Select item 14913772284.

rs1491377228 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:133969106 (GRCh38)
5:133304797 (GRCh37)
Canonical SPDI:: NC_000005.10:133969105:AC:
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.133969106_133969107del, NC_000005.9:g.133304797_133304798del

Select item 14913613355.

rs1491361335 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 5:133969111 (GRCh38)
5:133304802 (GRCh37)
Canonical SPDI:: NC_000005.10:133969106:CCCCCC:CCCC,NC_000005.10:133969106:CCCCCC:CCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCCCCCCCCCC,NC_000005.10:133969106:CCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000005.10:g.133969111_133969112del, NC_000005.10:g.133969112del, NC_000005.10:g.133969112dup, NC_000005.10:g.133969111_133969112dup, NC_000005.10:g.133969110_133969112dup, NC_000005.10:g.133969109_133969112dup, NC_000005.10:g.133969108_133969112dup, NC_000005.10:g.133969107_133969112dup, NC_000005.10:g.133969112_133969113insCCCCCCC, NC_000005.10:g.133969112_133969113insCCCCCCCCCCC, NC_000005.10:g.133969112_133969113insCCCCCCCCCCCCCCCCCC, NC_000005.9:g.133304802_133304803del, NC_000005.9:g.133304803del, NC_000005.9:g.133304803dup, NC_000005.9:g.133304802_133304803dup, NC_000005.9:g.133304801_133304803dup, NC_000005.9:g.133304800_133304803dup, NC_000005.9:g.133304799_133304803dup, NC_000005.9:g.133304798_133304803dup, NC_000005.9:g.133304803_133304804insCCCCCCC, NC_000005.9:g.133304803_133304804insCCCCCCCCCCC, NC_000005.9:g.133304803_133304804insCCCCCCCCCCCCCCCCCC

Select item 14911868396.

rs1491186839 has merged into rs71581379 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC [Show Flanks]
Chromosome:: 5:133969119 (GRCh38)
5:133304810 (GRCh37)
Canonical SPDI:: NC_000005.10:133969113:CCCCCCC:CCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCCCCCCCCC,NC_000005.10:133969113:CCCCCCC:CCCCCCCCCCCCCCCCCC
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
CCCCCCCC=0.00028/4 (TOMMO)
HGVS:: NC_000005.10:g.133969119_133969120del, NC_000005.10:g.133969120del, NC_000005.10:g.133969120dup, NC_000005.10:g.133969118_133969120dup, NC_000005.10:g.133969115_133969120dup, NC_000005.10:g.133969114_133969120dup, NC_000005.10:g.133969120_133969121insCCCCCCCC, NC_000005.10:g.133969120_133969121insCCCCCCCCC, NC_000005.10:g.133969120_133969121insCCCCCCCCCC, NC_000005.10:g.133969120_133969121insCCCCCCCCCCC, NC_000005.9:g.133304810_133304811del, NC_000005.9:g.133304811del, NC_000005.9:g.133304811dup, NC_000005.9:g.133304809_133304811dup, NC_000005.9:g.133304806_133304811dup, NC_000005.9:g.133304805_133304811dup, NC_000005.9:g.133304811_133304812insCCCCCCCC, NC_000005.9:g.133304811_133304812insCCCCCCCCC, NC_000005.9:g.133304811_133304812insCCCCCCCCCC, NC_000005.9:g.133304811_133304812insCCCCCCCCCCC

Select item 14909556657.

rs1490955665 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:133969969 (GRCh38)
5:133305660 (GRCh37)
Canonical SPDI:: NC_000005.10:133969968:AA:A
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000057/8 (GnomAD)
HGVS:: NC_000005.10:g.133969970del, NC_000005.9:g.133305661del, NG_027817.2:g.40165del, NR_134247.1:n.324del

Select item 14909394928.

rs1490939492 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:133956403 (GRCh38)
5:133292094 (GRCh37)
Canonical SPDI:: NC_000005.10:133956402:T:
Gene:: C5orf15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.133956403del, NC_000005.9:g.133292094del, NM_020199.3:c.*456del, NM_020199.2:c.*456del

Select item 14906589239.

rs1490658923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:133968581 (GRCh38)
5:133304272 (GRCh37)
Canonical SPDI:: NC_000005.10:133968580:C:T
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133968581C>T, NC_000005.9:g.133304272C>T, NM_020199.3:c.4G>A, NM_020199.2:c.4G>A, NP_064584.1:p.Ala2Thr

Select item 149063511110.

rs1490635111 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:133962326 (GRCh38)
5:133298017 (GRCh37)
Canonical SPDI:: NC_000005.10:133962325:C:
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.133962326del, NC_000005.9:g.133298017del

Select item 149050987111.

rs1490509871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:133970241 (GRCh38)
5:133305932 (GRCh37)
Canonical SPDI:: NC_000005.10:133970240:C:T
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_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_000005.10:g.133970241C>T, NC_000005.9:g.133305932C>T, NG_027817.2:g.39893G>A

Select item 149012053812.

rs1490120538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:133957044 (GRCh38)
5:133292735 (GRCh37)
Canonical SPDI:: NC_000005.10:133957043:A:C
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.133957044A>C, NC_000005.9:g.133292735A>C

Select item 148989523313.

rs1489895233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:133965300 (GRCh38)
5:133300991 (GRCh37)
Canonical SPDI:: NC_000005.10:133965299:T:A,NC_000005.10:133965299:T:C,NC_000005.10:133965299:T:G
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.133965300T>A, NC_000005.10:g.133965300T>C, NC_000005.10:g.133965300T>G, NC_000005.9:g.133300991T>A, NC_000005.9:g.133300991T>C, NC_000005.9:g.133300991T>G

Select item 148971546014.

rs1489715460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:133956506 (GRCh38)
5:133292197 (GRCh37)
Canonical SPDI:: NC_000005.10:133956505:A:T
Gene:: C5orf15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.133956506A>T, NC_000005.9:g.133292197A>T, NM_020199.3:c.*353T>A, NM_020199.2:c.*353T>A

Select item 148951300915.

rs1489513009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:133961300 (GRCh38)
5:133296991 (GRCh37)
Canonical SPDI:: NC_000005.10:133961299:C:T
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.133961300C>T, NC_000005.9:g.133296991C>T

Select item 148917519416.

rs1489175194 [Homo sapiens]

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

Select item 148910130117.

rs1489101301 has merged into rs56684565 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:133961240 (GRCh38)
5:133296931 (GRCh37)
Canonical SPDI:: NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:133961232:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000005.10:g.133961240_133961263del, NC_000005.10:g.133961244_133961263del, NC_000005.10:g.133961245_133961263del, NC_000005.10:g.133961246_133961263del, NC_000005.10:g.133961247_133961263del, NC_000005.10:g.133961248_133961263del, NC_000005.10:g.133961249_133961263del, NC_000005.10:g.133961250_133961263del, NC_000005.10:g.133961251_133961263del, NC_000005.10:g.133961252_133961263del, NC_000005.10:g.133961253_133961263del, NC_000005.10:g.133961254_133961263del, NC_000005.10:g.133961255_133961263del, NC_000005.10:g.133961256_133961263del, NC_000005.10:g.133961257_133961263del, NC_000005.10:g.133961258_133961263del, NC_000005.10:g.133961259_133961263del, NC_000005.10:g.133961260_133961263del, NC_000005.10:g.133961261_133961263del, NC_000005.10:g.133961262_133961263del, NC_000005.10:g.133961263del, NC_000005.10:g.133961263dup, NC_000005.10:g.133961262_133961263dup, NC_000005.10:g.133961261_133961263dup, NC_000005.10:g.133961260_133961263dup, NC_000005.10:g.133961259_133961263dup, NC_000005.10:g.133961258_133961263dup, NC_000005.10:g.133961257_133961263dup, NC_000005.10:g.133961256_133961263dup, NC_000005.10:g.133961255_133961263dup, NC_000005.10:g.133961254_133961263dup, NC_000005.10:g.133961253_133961263dup, NC_000005.10:g.133961252_133961263dup, NC_000005.10:g.133961250_133961263dup, NC_000005.10:g.133961248_133961263dup, NC_000005.9:g.133296931_133296954del, NC_000005.9:g.133296935_133296954del, NC_000005.9:g.133296936_133296954del, NC_000005.9:g.133296937_133296954del, NC_000005.9:g.133296938_133296954del, NC_000005.9:g.133296939_133296954del, NC_000005.9:g.133296940_133296954del, NC_000005.9:g.133296941_133296954del, NC_000005.9:g.133296942_133296954del, NC_000005.9:g.133296943_133296954del, NC_000005.9:g.133296944_133296954del, NC_000005.9:g.133296945_133296954del, NC_000005.9:g.133296946_133296954del, NC_000005.9:g.133296947_133296954del, NC_000005.9:g.133296948_133296954del, NC_000005.9:g.133296949_133296954del, NC_000005.9:g.133296950_133296954del, NC_000005.9:g.133296951_133296954del, NC_000005.9:g.133296952_133296954del, NC_000005.9:g.133296953_133296954del, NC_000005.9:g.133296954del, NC_000005.9:g.133296954dup, NC_000005.9:g.133296953_133296954dup, NC_000005.9:g.133296952_133296954dup, NC_000005.9:g.133296951_133296954dup, NC_000005.9:g.133296950_133296954dup, NC_000005.9:g.133296949_133296954dup, NC_000005.9:g.133296948_133296954dup, NC_000005.9:g.133296947_133296954dup, NC_000005.9:g.133296946_133296954dup, NC_000005.9:g.133296945_133296954dup, NC_000005.9:g.133296944_133296954dup, NC_000005.9:g.133296943_133296954dup, NC_000005.9:g.133296941_133296954dup, NC_000005.9:g.133296939_133296954dup

Select item 148907290918.

rs1489072909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:133964287 (GRCh38)
5:133299978 (GRCh37)
Canonical SPDI:: NC_000005.10:133964286:T:G
Gene:: C5orf15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.133964287T>G, NC_000005.9:g.133299978T>G

Select item 148895153319.

rs1488951533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:133955597 (GRCh38)
5:133291288 (GRCh37)
Canonical SPDI:: NC_000005.10:133955596:A:T
Gene:: C5orf15 (Varview), LOC105379182 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.133955597A>T, NC_000005.9:g.133291288A>T, NM_020199.3:c.*1262T>A, NM_020199.2:c.*1262T>A

Select item 148892244120.

rs1488922441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:133970283 (GRCh38)
5:133305974 (GRCh37)
Canonical SPDI:: NC_000005.10:133970282:G:C,NC_000005.10:133970282:G:T
Gene:: C5orf15 (Varview), LOC105379183 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.133970283G>C, NC_000005.10:g.133970283G>T, NC_000005.9:g.133305974G>C, NC_000005.9:g.133305974G>T, NG_027817.2:g.39851C>G, NG_027817.2:g.39851C>A

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