SNP Links for Gene (Select 1213) - SNP

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Select item 14915652241.

rs1491565224 has merged into rs10611799 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 17:59659464 (GRCh38)
17:57736825 (GRCh37)
Canonical SPDI:: NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59659453:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.0858/318 (TWINSUK)
TT=0.0859/331 (ALSPAC)
TT=0.1/4 (GENOME_DK)
TT=0.1967/985 (1000Genomes)
HGVS:: NC_000017.11:g.59659464_59659468del, NC_000017.11:g.59659465_59659468del, NC_000017.11:g.59659466_59659468del, NC_000017.11:g.59659467_59659468del, NC_000017.11:g.59659468del, NC_000017.11:g.59659468dup, NC_000017.11:g.59659467_59659468dup, NC_000017.10:g.57736825_57736829del, NC_000017.10:g.57736826_57736829del, NC_000017.10:g.57736827_57736829del, NC_000017.10:g.57736828_57736829del, NC_000017.10:g.57736829del, NC_000017.10:g.57736829dup, NC_000017.10:g.57736828_57736829dup, NG_047043.1:g.44776_44780del, NG_047043.1:g.44777_44780del, NG_047043.1:g.44778_44780del, NG_047043.1:g.44779_44780del, NG_047043.1:g.44780del, NG_047043.1:g.44780dup, NG_047043.1:g.44779_44780dup

Select item 14915513532.

rs1491551353 has merged into rs1191552303 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 17:59637571 (GRCh38)
17:57714932 (GRCh37)
Canonical SPDI:: NC_000017.11:59637570:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:59637570:TTTTTTTTTT:TTTTTTTTTTT
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00109/7 (1000Genomes)
HGVS:: NC_000017.11:g.59637580del, NC_000017.11:g.59637580dup, NC_000017.10:g.57714941del, NC_000017.10:g.57714941dup, NG_047043.1:g.22892del, NG_047043.1:g.22892dup

Select item 14915029293.

rs1491502929 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 17:59684800 (GRCh38)
17:57762161 (GRCh37)
Canonical SPDI:: NC_000017.11:59684799:CC:
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00015/10 (GnomAD)
HGVS:: NC_000017.11:g.59684800_59684801del, NC_000017.10:g.57762161_57762162del, NG_047043.1:g.70112_70113del

Select item 14914719694.

rs1491471969 has merged into rs57413220 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:59664562 (GRCh38)
17:57741923 (GRCh37)
Canonical SPDI:: NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59664550:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0353/136 (ALSPAC)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000017.11:g.59664562_59664567del, NC_000017.11:g.59664563_59664567del, NC_000017.11:g.59664564_59664567del, NC_000017.11:g.59664565_59664567del, NC_000017.11:g.59664566_59664567del, NC_000017.11:g.59664567del, NC_000017.11:g.59664567dup, NC_000017.11:g.59664566_59664567dup, NC_000017.11:g.59664565_59664567dup, NC_000017.11:g.59664564_59664567dup, NC_000017.11:g.59664563_59664567dup, NC_000017.11:g.59664562_59664567dup, NC_000017.11:g.59664559_59664567dup, NC_000017.10:g.57741923_57741928del, NC_000017.10:g.57741924_57741928del, NC_000017.10:g.57741925_57741928del, NC_000017.10:g.57741926_57741928del, NC_000017.10:g.57741927_57741928del, NC_000017.10:g.57741928del, NC_000017.10:g.57741928dup, NC_000017.10:g.57741927_57741928dup, NC_000017.10:g.57741926_57741928dup, NC_000017.10:g.57741925_57741928dup, NC_000017.10:g.57741924_57741928dup, NC_000017.10:g.57741923_57741928dup, NC_000017.10:g.57741920_57741928dup, NG_047043.1:g.49874_49879del, NG_047043.1:g.49875_49879del, NG_047043.1:g.49876_49879del, NG_047043.1:g.49877_49879del, NG_047043.1:g.49878_49879del, NG_047043.1:g.49879del, NG_047043.1:g.49879dup, NG_047043.1:g.49878_49879dup, NG_047043.1:g.49877_49879dup, NG_047043.1:g.49876_49879dup, NG_047043.1:g.49875_49879dup, NG_047043.1:g.49874_49879dup, NG_047043.1:g.49871_49879dup

Select item 14914355765.

rs1491435576 has merged into rs34208843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:59641614 (GRCh38)
17:57718975 (GRCh37)
Canonical SPDI:: NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59641603:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.59641614_59641627del, NC_000017.11:g.59641615_59641627del, NC_000017.11:g.59641616_59641627del, NC_000017.11:g.59641617_59641627del, NC_000017.11:g.59641618_59641627del, NC_000017.11:g.59641619_59641627del, NC_000017.11:g.59641620_59641627del, NC_000017.11:g.59641621_59641627del, NC_000017.11:g.59641622_59641627del, NC_000017.11:g.59641623_59641627del, NC_000017.11:g.59641624_59641627del, NC_000017.11:g.59641625_59641627del, NC_000017.11:g.59641626_59641627del, NC_000017.11:g.59641627del, NC_000017.11:g.59641627dup, NC_000017.11:g.59641626_59641627dup, NC_000017.11:g.59641625_59641627dup, NC_000017.11:g.59641624_59641627dup, NC_000017.11:g.59641623_59641627dup, NC_000017.11:g.59641622_59641627dup, NC_000017.11:g.59641621_59641627dup, NC_000017.11:g.59641620_59641627dup, NC_000017.11:g.59641619_59641627dup, NC_000017.11:g.59641618_59641627dup, NC_000017.11:g.59641617_59641627dup, NC_000017.11:g.59641612_59641627dup, NC_000017.10:g.57718975_57718988del, NC_000017.10:g.57718976_57718988del, NC_000017.10:g.57718977_57718988del, NC_000017.10:g.57718978_57718988del, NC_000017.10:g.57718979_57718988del, NC_000017.10:g.57718980_57718988del, NC_000017.10:g.57718981_57718988del, NC_000017.10:g.57718982_57718988del, NC_000017.10:g.57718983_57718988del, NC_000017.10:g.57718984_57718988del, NC_000017.10:g.57718985_57718988del, NC_000017.10:g.57718986_57718988del, NC_000017.10:g.57718987_57718988del, NC_000017.10:g.57718988del, NC_000017.10:g.57718988dup, NC_000017.10:g.57718987_57718988dup, NC_000017.10:g.57718986_57718988dup, NC_000017.10:g.57718985_57718988dup, NC_000017.10:g.57718984_57718988dup, NC_000017.10:g.57718983_57718988dup, NC_000017.10:g.57718982_57718988dup, NC_000017.10:g.57718981_57718988dup, NC_000017.10:g.57718980_57718988dup, NC_000017.10:g.57718979_57718988dup, NC_000017.10:g.57718978_57718988dup, NC_000017.10:g.57718973_57718988dup, NG_047043.1:g.26926_26939del, NG_047043.1:g.26927_26939del, NG_047043.1:g.26928_26939del, NG_047043.1:g.26929_26939del, NG_047043.1:g.26930_26939del, NG_047043.1:g.26931_26939del, NG_047043.1:g.26932_26939del, NG_047043.1:g.26933_26939del, NG_047043.1:g.26934_26939del, NG_047043.1:g.26935_26939del, NG_047043.1:g.26936_26939del, NG_047043.1:g.26937_26939del, NG_047043.1:g.26938_26939del, NG_047043.1:g.26939del, NG_047043.1:g.26939dup, NG_047043.1:g.26938_26939dup, NG_047043.1:g.26937_26939dup, NG_047043.1:g.26936_26939dup, NG_047043.1:g.26935_26939dup, NG_047043.1:g.26934_26939dup, NG_047043.1:g.26933_26939dup, NG_047043.1:g.26932_26939dup, NG_047043.1:g.26931_26939dup, NG_047043.1:g.26930_26939dup, NG_047043.1:g.26929_26939dup, NG_047043.1:g.26924_26939dup

Select item 14914319196.

rs1491431919 [Homo sapiens]

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

Select item 14911859837.

rs1491185983 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:59684800 (GRCh38)
17:57762162 (GRCh37)
Canonical SPDI:: NC_000017.11:59684800::G
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.59684800_59684801insG, NC_000017.10:g.57762161_57762162insG, NG_047043.1:g.70112_70113insG

Select item 14911461088.

rs1491146108 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:59637570 (GRCh38)
17:57714931 (GRCh37)
Canonical SPDI:: NC_000017.11:59637569:AT:
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59637570_59637571del, NC_000017.10:g.57714931_57714932del, NG_047043.1:g.22882_22883del

Select item 14910992809.

rs1491099280 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:59696615 (GRCh38)
17:57773977 (GRCh37)
Canonical SPDI:: NC_000017.11:59696615:T:TT
Gene:: CLTC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59696616dup, NC_000017.10:g.57773977dup, NG_047043.1:g.81928dup, NM_004859.4:c.*2764dup, NM_004859.3:c.*2764dup, NM_001288653.2:c.*2764dup, NM_001288653.1:c.*2764dup, NG_042064.1:g.15983dup

Select item 149109183010.

rs1491091830 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:59659453 (GRCh38)
17:57736814 (GRCh37)
Canonical SPDI:: NC_000017.11:59659452:AT:
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00006/5 (GnomAD)
-=0.00011/2 (TOMMO)
-=0.00062/1 (Korea1K)
HGVS:: NC_000017.11:g.59659453_59659454del, NC_000017.10:g.57736814_57736815del, NG_047043.1:g.44765_44766del

Select item 149106539911.

rs1491065399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:59625632 (GRCh38)
17:57702993 (GRCh37)
Canonical SPDI:: NC_000017.11:59625629:AGAG:AG
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59625630AG[1], NC_000017.10:g.57702991AG[1], NG_047043.1:g.10942AG[1]

Select item 149098892312.

rs1490988923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59647321 (GRCh38)
17:57724682 (GRCh37)
Canonical SPDI:: NC_000017.11:59647320:G:A
Gene:: CLTC (Varview)
Functional Consequence:: intron_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_000017.11:g.59647321G>A, NC_000017.10:g.57724682G>A, NG_047043.1:g.32633G>A

Select item 149096685513.

rs1490966855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:59632203 (GRCh38)
17:57709564 (GRCh37)
Canonical SPDI:: NC_000017.11:59632202:C:A
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.59632203C>A, NC_000017.10:g.57709564C>A, NG_047043.1:g.17515C>A

Select item 149084715814.

rs1490847158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:59692755 (GRCh38)
17:57770116 (GRCh37)
Canonical SPDI:: NC_000017.11:59692754:A:G,NC_000017.11:59692754:A:T
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59692755A>G, NC_000017.11:g.59692755A>T, NC_000017.10:g.57770116A>G, NC_000017.10:g.57770116A>T, NG_047043.1:g.78067A>G, NG_047043.1:g.78067A>T

Select item 149081429715.

rs1490814297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59685864 (GRCh38)
17:57763225 (GRCh37)
Canonical SPDI:: NC_000017.11:59685863:A:G
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.005/3 (NorthernSweden)
HGVS:: NC_000017.11:g.59685864A>G, NC_000017.10:g.57763225A>G, NG_047043.1:g.71176A>G

Select item 149081085716.

rs1490810857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59686903 (GRCh38)
17:57764264 (GRCh37)
Canonical SPDI:: NC_000017.11:59686902:A:G
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59686903A>G, NC_000017.10:g.57764264A>G, NG_047043.1:g.72215A>G

Select item 149073979817.

rs1490739798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:59681246 (GRCh38)
17:57758607 (GRCh37)
Canonical SPDI:: NC_000017.11:59681245:C:A,NC_000017.11:59681245:C:T
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59681246C>A, NC_000017.11:g.59681246C>T, NC_000017.10:g.57758607C>A, NC_000017.10:g.57758607C>T, NG_047043.1:g.66558C>A, NG_047043.1:g.66558C>T

Select item 149067722218.

rs1490677222 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGTAGCTGGGACTAC>- [Show Flanks]
Chromosome:: 17:59648821 (GRCh38)
17:57726182 (GRCh37)
Canonical SPDI:: NC_000017.11:59648819:CGAGTAGCTGGGACTAC:C
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000017.11:g.59648821_59648836del, NC_000017.10:g.57726182_57726197del, NG_047043.1:g.34133_34148del

Select item 149066848119.

rs1490668481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59675479 (GRCh38)
17:57752840 (GRCh37)
Canonical SPDI:: NC_000017.11:59675478:G:A
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59675479G>A, NC_000017.10:g.57752840G>A, NG_047043.1:g.60791G>A

Select item 149061664120.

rs1490616641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59631573 (GRCh38)
17:57708934 (GRCh37)
Canonical SPDI:: NC_000017.11:59631572:A:G
Gene:: CLTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.59631573A>G, NC_000017.10:g.57708934A>G, NG_047043.1:g.16885A>G, NM_014127.1:c.*409A>G

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